3308
(4.0%)

Corticosteroid-sensitive aseptic abscess syndrome

Abnormal testis morphology

Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.

3308
(4.0%)

Mirizzi syndrome

Diabetes mellitus

3308
(4.0%)

Collecting duct carcinoma

Renal cyst

Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.

3308
(4.0%)

Classic hairy cell leukemia

Splenomegaly

Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.

3308
(4.0%)

Spinocerebellar ataxia type 29

Abnormal saccadic eye movements

Autosomal dominant inheritance

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

3308
(4.0%)

Severe congenital hypochromic anemia with ringed sideroblasts

Azoospermia

Autosomal dominant inheritance

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

3308
(4.0%)

Macular corneal dystrophy

Hyperopic astigmatism

Autosomal recessive inheritance

Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.

3308
(4.0%)

Spectrin-associated autosomal recessive cerebellar ataxia

Strabismus

Autosomal recessive inheritance

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

3308
(4.0%)

Hyperinsulinism-hyperammonemia syndrome

Hyperactivity

Autosomal dominant inheritance Heterogeneous

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

3308
(4.0%)

Laryngotracheoesophageal cleft

Cyanosis

A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.

3308
(4.0%)

Spinocerebellar ataxia type 28

Ptosis

Autosomal dominant inheritance

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

3308
(4.0%)

Trichofolliculoma

Hyperkeratosis

A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.

3308
(4.0%)

Argininosuccinic aciduria

Psychosis

Autosomal recessive inheritance

A disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

3308
(4.0%)

Diffuse cutaneous mastocytosis

Pruritus

Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).

3308
(4.0%)

Pulmonary artery hypoplasia

Pigmentary retinopathy

A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.

3308
(4.0%)

Pemphigoid gestationis

Amenorrhea

3308
(4.0%)

Thomsen and Becker disease

Strabismus

Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

3308
(4.0%)

His bundle tachycardia

Hypertension

His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.

3308
(4.0%)

Cutaneous mastocytoma

Cafe-au-lait spot

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.

3308
(4.0%)

Fatal familial insomnia

Dementia

Autosomal dominant inheritance

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

3308
(4.0%)

Autoimmune hemolytic anemia, warm type

Hyperthyroidism

Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).

3308
(4.0%)

Paraquat poisoning

Hypertension

Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.

3308
(4.0%)

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Dysmetric saccades

Autosomal recessive inheritance

A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.

3308
(4.0%)

Tubular aggregate myopathy

Retinal degeneration

3308
(4.0%)

Hereditary pulmonary alveolar proteinosis

Intrauterine growth retardation

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.

3308
(4.0%)

Spinocerebellar ataxia type 19/22

Urinary incontinence

Autosomal dominant inheritance

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

3308
(4.0%)

Spinocerebellar ataxia type 12

Behavioral abnormality

Autosomal dominant inheritance

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

3308
(4.0%)

Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

Agitation

3308
(4.0%)

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Renal insufficiency

X-linked recessive inheritance

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

3308
(4.0%)

Late infantile neuronal ceroid lipofuscinosis

Abnormality of the eye

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

3308
(4.0%)

Pituitary deficiency due to empty sella turcica syndrome

Diplopia

3308
(4.0%)

Cap polyposis

Edema

A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.

3308
(4.0%)

Cor triatriatum dexter

Hydronephrosis

3308
(4.0%)

Syndromic recessive X-linked ichthyosis

Cryptorchidism

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

3308
(4.0%)

Benign recurrent intrahepatic cholestasis

Hearing impairment

Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).

3308
(4.0%)

Marchiafava-Bignami disease

Dementia

3308
(4.0%)

Retinitis punctata albescens

Progressive visual loss

3308
(4.0%)

Leigh syndrome with nephrotic syndrome

Nephrotic syndrome

A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.

3308
(4.0%)

Ring chromosome Y syndrome

Male hypogonadism

Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.

3308
(4.0%)

KCNQ2-related epileptic encephalopathy

Pallor

Autosomal dominant inheritance

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

3308
(4.0%)

Wolfram-like syndrome

Male hypogonadism

Autosomal dominant inheritance

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

3308
(4.0%)

Childhood disintegrative disorder

Urinary incontinence

Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.

3308
(4.0%)

Primary progressive freezing gait

Urinary incontinence

Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.

3308
(4.0%)

Gyrate atrophy of choroid and retina

Astigmatism

Autosomal recessive inheritance

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

3308
(4.0%)

Hereditary mixed polyposis syndrome

Weight loss

Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.

3308
(4.0%)

Ethylmalonic encephalopathy

Petechiae

Autosomal recessive inheritance

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

3308
(4.0%)

Recessive mitochondrial ataxia syndrome

Ophthalmoplegia

Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

3308
(4.0%)

Levocardia

Cyanosis

A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.

3308
(4.0%)

Semantic dementia

Dementia

Autosomal dominant inheritance Heterogeneous

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

3308
(4.0%)

Familial benign chronic pemphigus

Hyperkeratosis

Autosomal dominant inheritance

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

3308
(4.0%)

Paroxysmal exertion-induced dyskinesia

Aggressive behavior

Autosomal dominant inheritance

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

3308
(4.0%)

3-methylcrotonyl-CoA carboxylase deficiency

Hypotonia

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3308
(4.0%)

Matthew-Wood syndrome

Cryptorchidism

Autosomal dominant inheritance Autosomal recessive inheritance

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

3308
(4.0%)

Adult neuronal ceroid lipofuscinosis

Retinal degeneration

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.

3308
(4.0%)

Baroreflex failure

Renal salt wasting

3308
(4.0%)

Placental site trophoblastic tumor

Proteinuria

Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.

3308
(4.0%)

Crigler-Najjar syndrome

Hearing impairment

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

3308
(4.0%)

Adenocarcinoma of the cervix uteri

Aggressive behavior

3308
(4.0%)

Pleuropulmonary blastoma

Respiratory distress

Autosomal dominant inheritance Familial predisposition

3308
(4.0%)

Primary peritoneal carcinoma

Nephrotic syndrome

Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).

3308
(4.0%)

Splenic marginal zone lymphoma

Glomerulonephritis

Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.

3308
(4.0%)

Frontotemporal dementia, right temporal atrophy variant

Behavioral abnormality

Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.

3308
(4.0%)

Central areolar choroidal dystrophy

Retinopathy

Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.

3308
(4.0%)

Myoclonic epilepsy of infancy

Aggressive behavior

3308
(4.0%)

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Inappropriate behavior

PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.

3308
(4.0%)

Myoclonic-astastic epilepsy

Aggressive behavior

A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

3308
(4.0%)

Hyperinsulinism due to UCP2 deficiency

Agitation

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

3308
(4.0%)

Haddad syndrome

Sensorineural hearing impairment

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

3308
(4.0%)

Adult-onset autosomal dominant leukodystrophy

Urinary urgency

Autosomal dominant inheritance

A rare, slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.

3308
(4.0%)

Very long chain acyl-CoA dehydrogenase deficiency

Lethargy

Autosomal recessive inheritance

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

3308
(4.0%)

Reticular dysgenesis

Hearing impairment

Autosomal recessive inheritance

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

3308
(4.0%)

Pendred syndrome

Nephropathy

Autosomal recessive inheritance

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

3308
(4.0%)

Pyridoxine-dependent epilepsy

Hydrocephalus

A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

3308
(4.0%)

Catecholaminergic polymorphic ventricular tachycardia

Anxiety

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.

3308
(4.0%)

Liddle syndrome

Urinary retention

Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.

3308
(4.0%)

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Proteinuria

Autosomal dominant inheritance

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

3308
(4.0%)

Pneumocystosis

Ascites

Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.

3308
(4.0%)

TAFRO syndrome

Renal insufficiency

3308
(4.0%)

PANDAS

Emotional lability

PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.

3308
(4.0%)

Neuroendocrine tumor of the colon

Right ventricular failure

A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).

3308
(4.0%)

Familial acute necrotizing encephalopathy

Intellectual disability

Autosomal dominant inheritance

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

3308
(4.0%)

Familial chylomicronemia syndrome

Lipemia retinalis

3308
(4.0%)

Microvillus inclusion disease

Recurrent urinary tract infections

Autosomal recessive inheritance

Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.

3308
(4.0%)

Ménétrier disease

Edema

Autosomal recessive inheritance

Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.

3308
(4.0%)

Carnitine palmitoyl transferase 1A deficiency

Behavioral abnormality

Autosomal recessive inheritance

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

3308
(4.0%)

Neuroferritinopathy

Abnormality of eye movement

Autosomal dominant inheritance

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

3308
(4.0%)

Ethylene glycol poisoning

Renal tubular atrophy

Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.

3308
(4.0%)

Neuroendocrine tumor of anal canal

Right ventricular failure

Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).

3308
(4.0%)

3-methylglutaconic aciduria type 9

Urinary incontinence

3308
(4.0%)

Childhood-onset spasticity with hyperglycinemia

Visual impairment

Autosomal recessive inheritance

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

3308
(4.0%)

Acquired purpura fulminans

Skin rash

Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.

3308
(4.0%)

Kleine-Levin syndrome

Behavioral abnormality

Autosomal dominant inheritance

Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.

3308
(4.0%)

Romano-Ward syndrome

Hearing impairment

Autosomal dominant inheritance

Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).

3308
(4.0%)

Congenital mesoblastic nephroma

Polyuria

3308
(4.0%)

Plastic bronchitis

Nephrotic syndrome

3308
(4.0%)

Spontaneous periodic hypothermia

Polyuria

Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.

3308
(4.0%)

Dysequilibrium syndrome

Abnormality of the eye

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

3308
(4.0%)

Acquired methemoglobinemia

Anxiety

3308
(4.0%)

Carney triad

Hyperactivity

A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

3308
(4.0%)

Choroid plexus carcinoma

Blurred vision

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.