3308
(4.0%)

Tracheal agenesis

Horseshoe kidney

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.

3308
(4.0%)

Pure autonomic failure

Urinary incontinence

Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.

3308
(4.0%)

Glycogen storage disease due to LAMP-2 deficiency

Autism

X-linked recessive inheritance X-linked dominant inheritance

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

3308
(4.0%)

Dubin-Johnson syndrome

Jaundice

Autosomal recessive inheritance

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

3308
(4.0%)

Gliomatosis cerebri

Urinary incontinence

3308
(4.0%)

Alveolar soft tissue sarcoma

Proptosis

Somatic mutation

3308
(4.0%)

Female restricted epilepsy with intellectual disability

Behavioral abnormality

X-linked inheritance

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

3308
(4.0%)

Acyl-CoA dehydrogenase 9 deficiency

Generalized hypotonia

Autosomal recessive inheritance

A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.

3308
(4.0%)

Neuroendocrine tumor of the rectum

Hemangioma

Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.

3308
(4.0%)

Neuroectodermal melanolysosomal disease

Strabismus

Autosomal recessive inheritance

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

3308
(4.0%)

Hereditary fructose intolerance

Renal insufficiency

Autosomal recessive inheritance

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

3308
(4.0%)

Mounier-Kühn syndrome

Ptosis

Autosomal recessive inheritance

Mounier-Kühn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.

3308
(4.0%)

Vitamin B12-unresponsive methylmalonic acidemia

Renal insufficiency

Autosomal recessive inheritance

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).

3308
(4.0%)

Gestational choriocarcinoma

Hematuria

Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).

3308
(4.0%)

Neuroendocrine neoplasm of appendix

Primary hypercortisolism

Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).

3308
(4.0%)

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Multicystic kidney dysplasia

Autosomal dominant inheritance

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

3308
(4.0%)

Drug-induced lupus erythematosus

Hematuria

A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydrazaline are the drugs most frequently implicated.

3308
(4.0%)

Hereditary coproporphyria

Behavioral abnormality

Autosomal dominant inheritance

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

3308
(4.0%)

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Ptosis

Autosomal recessive inheritance

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

3308
(4.0%)

Glucocorticoid resistance

Ambiguous genitalia

Autosomal dominant inheritance Autosomal recessive inheritance

3308
(4.0%)

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Purpura

Somatic mutation Autosomal dominant contiguous gene syndrome Sporadic

3308
(4.0%)

Juvenile neuronal ceroid lipofuscinosis

Retinopathy

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.

3308
(4.0%)

Deafness-lymphedema-leukemia syndrome

Chronic otitis media

Autosomal dominant inheritance

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

3308
(4.0%)

Sympathetic ophthalmia

Glaucoma

Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.

3308
(4.0%)

Spinocerebellar ataxia type 10

Urinary urgency

Autosomal dominant inheritance Genetic anticipation

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

3308
(4.0%)

Ileal neuroendocrine tumor

Hydronephrosis

Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.

3308
(4.0%)

Early-onset autosomal dominant Alzheimer disease

Abnormality of vision

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

3308
(4.0%)

Secondary short bowel syndrome

Primary hypothyroidism

Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.

3308
(4.0%)

Congenital pulmonary airway malformation

Diabetes mellitus

3308
(4.0%)

Cancer-associated retinopathy

Retinopathy

Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.

3308
(4.0%)

Huntington disease

Behavioral abnormality

Autosomal dominant inheritance

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

3308
(4.0%)

T-B+ severe combined immunodeficiency due to gamma chain deficiency

Jaundice

X-linked recessive inheritance

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

3308
(4.0%)

Fatty acid hydroxylase-associated neurodegeneration

Strabismus

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.

3308
(4.0%)

Leigh syndrome with leukodystrophy

Hearing impairment

3308
(4.0%)

Reversible cerebral vasoconstriction syndrome

Hypertension

Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.

3308
(4.0%)

Differentiated thyroid carcinoma

Diplopia

Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.

3308
(4.0%)

Carcinoma of the ampulla of Vater

Hydroureter

Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.

3308
(4.0%)

Papillary renal cell carcinoma

Horseshoe kidney

Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.

3308
(4.0%)

Acquired idiopathic sideroblastic anemia

Hypertension

A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.

3308
(4.0%)

Long chain acyl-CoA dehydrogenase deficiency

Autistic behavior