3308 (4.0%)
|
Familial short QT syndrome
|
Syncope
Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
Orphanet:51083
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3308 (4.0%)
|
Oligomeganephronia
|
Proteinuria
Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
Orphanet:2260
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3308 (4.0%)
|
Glutathione synthetase deficiency
|
Abnormality of the nervous system
A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Orphanet:32
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GTR:C1291643
GTR:C0398746
|
3308 (4.0%)
|
Punctate palmoplantar keratoderma type 1
|
Palmoplantar keratoderma
Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
Orphanet:79501
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3308 (4.0%)
|
Granular corneal dystrophy type II
|
Nephropathy
Autosomal dominant inheritance
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Orphanet:98963
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GTR:C1275685
|
3308 (4.0%)
|
Paroxysmal extreme pain disorder
|
Sensory neuropathy
Autosomal dominant inheritance
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
Orphanet:46348
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KEGG:H00772
GTR:C1833661
|
3308 (4.0%)
|
Photosensitive epilepsy
|
Cataract
Orphanet:166409
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GTR:C0393720
|
3308 (4.0%)
|
Episodic ataxia type 3
|
Tinnitus
Autosomal dominant inheritance
Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
Orphanet:79135
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GTR:C1847839
|
3308 (4.0%)
|
Startle epilepsy
|
Seizure
Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
Orphanet:166427
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3308 (4.0%)
|
Chronic beryllium disease
|
Pneumonia
Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.
Orphanet:133
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GTR:C0221052
GTR:C0005138
|
3308 (4.0%)
|
Acute motor and sensory axonal neuropathy
|
Polyneuropathy
A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).
Orphanet:98917
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3308 (4.0%)
|
Extraventricular neurocytoma
|
Hyperactivity
Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.
Orphanet:251927
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3308 (4.0%)
|
Fetal parvovirus syndrome
|
Abnormality of the eye
Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.
Orphanet:295
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GTR:C2931167
|
3308 (4.0%)
|
Mucinous adenocarcinoma of the appendix
|
Inguinal hernia
Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.
Orphanet:391723
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GTR:C1706832
|
3308 (4.0%)
|
Monocytopenia with susceptibility to infections
|
Hypothyroidism
Autosomal dominant inheritance
Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
Orphanet:228423
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3308 (4.0%)
|
Viral myositis
|
Dysarthria
Orphanet:206991
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GTR:C0150005
|
3308 (4.0%)
|
Radiation myelitis
|
Blindness
Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.
Orphanet:90021
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3308 (4.0%)
|
Acute undifferentiated leukemia
|
Blindness
A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).
Orphanet:98835
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GTR:C0280141
GTR:C0856823
|
3308 (4.0%)
|
St. Louis encephalitis
|
Hydrocephalus
An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.
Orphanet:83484
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GTR:C0014060
|
3308 (4.0%)
|
Malignant mixed Müllerian tumor of the ovary
|
Inguinal hernia
Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.
Orphanet:213512
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GTR:C0392998
|
3308 (4.0%)
|
Epidermolysis bullosa simplex with mottled pigmentation
|
Bruising susceptibility
Autosomal dominant inheritance
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Orphanet:79397
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Gene Reviews
GTR:C0432316
|
3308 (4.0%)
|
Keratoderma hereditarium mutilans with ichthyosis
|
Sensorineural hearing impairment
Autosomal dominant inheritance
Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Orphanet:79395
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GTR:C1858805
|
3308 (4.0%)
|
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
|
Hydrocephalus
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
Orphanet:2703
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3308 (4.0%)
|
Spinocerebellar ataxia type 23
|
Slow saccadic eye movements
Autosomal dominant inheritance
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
Orphanet:101108
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GTR:C1853250
|
3308 (4.0%)
|
Dyschromatosis symmetrica hereditaria
|
Mottled pigmentation
Autosomal dominant inheritance
A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Orphanet:41
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KEGG:H00880
GTR:C0406775
|
3308 (4.0%)
|
X-linked neurodegenerative syndrome, Bertini type
|
Macular degeneration
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.
Orphanet:85334
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3308 (4.0%)
|
Accessory mitral valve tissue
|
Ventricular septal defect
A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.
Orphanet:99061
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3308 (4.0%)
|
Histidinemia
|
Behavioral abnormality
Autosomal dominant inheritance
Autosomal recessive inheritance
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Orphanet:2157
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KEGG:H00171
GTR:C0268642
GTR:C0220992
|
3308 (4.0%)
|
Combined immunodeficiency due to partial RAG1 deficiency
|
Splenomegaly
Autosomal recessive inheritance
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Orphanet:231154
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KEGG:H01244
GTR:C1835931
|
3308 (4.0%)
|
Rippling muscle disease
|
Esotropia
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
Orphanet:97238
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GTR:C1853698
|
3308 (4.0%)
|
Pierson syndrome
|
Proteinuria
Autosomal recessive inheritance
A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.
Orphanet:2670
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KEGG:H00576
GTR:C1836876
|
3308 (4.0%)
|
Carbamoyl-phosphate synthetase 1 deficiency
|
Blindness
Autosomal recessive inheritance
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Orphanet:147
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KEGG:H00164
Gene Reviews
GTR:C0751753
|
3308 (4.0%)
|
Hereditary continuous muscle fiber activity
|
Congenital diaphragmatic hernia
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
Orphanet:972
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GTR:C1834559
|
3308 (4.0%)
|
Chronic hiccup
|
Renal cyst
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
Orphanet:396
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3308 (4.0%)
|
Macular amyloidosis
|
Nephropathy
Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.
Orphanet:137814
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3308 (4.0%)
|
Unclassified myelodysplastic syndrome
|
Abnormality of blood and blood-forming tissues
Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.
Orphanet:98827
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3308 (4.0%)
|
Carnosinase deficiency
|
Optic atrophy
Autosomal recessive inheritance
Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
Orphanet:1361
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GTR:C0268632
GTR:C3495555
GTR:C3495554
|
3308 (4.0%)
|
Autosomal recessive spastic paraplegia type 70
|
Nephrotic syndrome
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Orphanet:401835
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3308 (4.0%)
|
IRIDA syndrome
|
Hyperkeratosis
Autosomal recessive inheritance
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Orphanet:209981
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KEGG:H01278
GTR:C0085576
|
3308 (4.0%)
|
Glycogen storage disease due to muscle phosphofructokinase deficiency
|
Muscle weakness
Autosomal recessive inheritance
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
Orphanet:371
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KEGG:H01945
GTR:C0017926
|