3308 (4.0%)
|
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
|
Recurrent otitis media
Orphanet:444463
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3308 (4.0%)
|
Ependymoma
|
Seizure
Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.
Orphanet:251636
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GTR:C0014474
|
3308 (4.0%)
|
Subependymoma
|
Seizure
Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.
Orphanet:251639
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GTR:C0206725
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3308 (4.0%)
|
Desquamative interstitial pneumonia
|
Focal segmental glomerulosclerosis
Autosomal recessive inheritance
Orphanet:98852
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GTR:C0238378
|
3308 (4.0%)
|
Phosphoribosylpyrophosphate synthetase superactivity
|
Renal insufficiency
X-linked recessive inheritance
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms).
Orphanet:3222
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KEGG:H00196
Gene Reviews
GTR:C1970827
|
3308 (4.0%)
|
Angiostrongyliasis
|
Urinary retention
A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.
Orphanet:74
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GTR:C0392662
|
3308 (4.0%)
|
Drug-induced vasculitis
|
Glomerulonephritis
Orphanet:251325
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3308 (4.0%)
|
Alveolar echinococcosis
|
Jaundice
A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.
Orphanet:284
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GTR:C0948954
|
3308 (4.0%)
|
Post-transplant lymphoproliferative disease
|
Lethargy
Post-transplant lymphoproliferative disease (PTLD) describes a heterogeneous group of lymphoproliferative diseases occurring in the context of post-transplant immunosuppression and ranging from benign polyclonal B-cell proliferation to malignant lymphomas.
Orphanet:70568
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GTR:C0432487
|
3308 (4.0%)
|
Undifferentiated embryonal sarcoma of the liver
|
Cirrhosis
Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.
Orphanet:178315
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3308 (4.0%)
|
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
|
Cholestasis
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
Orphanet:209902
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3308 (4.0%)
|
X-linked non progressive cerebellar ataxia
|
Strabismus
X-linked recessive inheritance
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Orphanet:314978
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|
3308 (4.0%)
|
Autosomal recessive spastic paraplegia type 75
|
Astigmatism
Autosomal recessive inheritance
Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
Orphanet:459056
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|
3308 (4.0%)
|
Isolated optic nerve hypoplasia/aplasia
|
Vesicoureteral reflux
Autosomal dominant inheritance
Orphanet:137902
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KEGG:H02203
GTR:C0338502
|
3308 (4.0%)
|
Ivemark syndrome
|
Horseshoe kidney
Autosomal recessive inheritance
Orphanet:97548
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KEGG:H01764
GTR:C0175707
|
3308 (4.0%)
|
Juvenile primary lateral sclerosis
|
Abnormality of the bladder
Autosomal recessive inheritance
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Orphanet:247604
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KEGG:H00970
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GTR:C1853396
|
3308 (4.0%)
|
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
|
Portal hypertension
Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named trimorphic syndrome (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
Orphanet:210136
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3308 (4.0%)
|
Generalized eruptive histiocytosis
|
Pruritus
Orphanet:157991
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|
3308 (4.0%)
|
TEMPI syndrome
|
Abnormality of the kidney
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.
Orphanet:284227
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GTR:C3854394
|
3308 (4.0%)
|
Inferior vena cava interruption without azygos continuation
|
Cyanosis
Orphanet:99123
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|
3308 (4.0%)
|
Xeroderma pigmentosum variant
|
Keratitis
Autosomal recessive inheritance
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Orphanet:90342
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GTR:C0432328
GTR:C1848410
|
3308 (4.0%)
|
Extramammary Paget disease
|
Uterine prolapse
Orphanet:2800
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GTR:C0030186
|
3308 (4.0%)
|
Congenital sucrase-isomaltase deficiency
|
Failure to thrive
Autosomal recessive inheritance
Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides.
Orphanet:35122
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KEGG:H00115
GTR:C1283620
|
3308 (4.0%)
|
Ondine syndrome
|
Psychosis
Autosomal dominant inheritance
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
Orphanet:661
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KEGG:H00916
Gene Reviews
GTR:C1275808
|
3308 (4.0%)
|
Fibrolamellar hepatocellular carcinoma
|
Gynecomastia
Orphanet:401920
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GTR:C0334287
|
3308 (4.0%)
|
Pleomorphic xanthoastrocytoma
|
Visual loss
Orphanet:251607
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GTR:C0334586
|
3308 (4.0%)
|
Mitochondrial DNA-related progressive external ophthalmoplegia
|
Ptosis
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
Orphanet:663
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GTR:C0162674
|
3308 (4.0%)
|
Congenital cerebellar ataxia due to RNU12 mutation
|
Nystagmus
Orphanet:512260
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3308 (4.0%)
|
Spinocerebellar ataxia type 37
|
Sensorineural hearing impairment
Autosomal dominant inheritance
Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.
Orphanet:363710
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Gene Reviews
|
3308 (4.0%)
|
Adult-onset foveomacular vitelliform dystrophy
|
Abnormality of the eye
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
Orphanet:99000
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GTR:C1842914
|
3308 (4.0%)
|
Transcobalamin deficiency
|
Ataxia
Autosomal recessive inheritance
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Orphanet:859
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KEGG:H01190
GTR:C0342701
|
3308 (4.0%)
|
Idiopathic uveal effusion syndrome
|
Retinopathy
Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.
Orphanet:209956
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3308 (4.0%)
|
Lethal ataxia with deafness and optic atrophy
|
Sensorineural hearing impairment
X-linked recessive inheritance
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Orphanet:1187
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KEGG:H00946
Gene Reviews
GTR:C0796028
|
3308 (4.0%)
|
Landau-Kleffner syndrome
|
Autism
Autosomal dominant inheritance
Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.
Orphanet:98818
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KEGG:H01514
KEGG:H01827
Gene Reviews
GTR:C0282512
|
3308 (4.0%)
|
ATTRV30M amyloidosis
|
Nephropathy
Autosomal dominant inheritance
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.
Orphanet:85447
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KEGG:H00845
Gene Reviews
GTR:C0206245
|
3308 (4.0%)
|
Hereditary leiomyomatosis and renal cell cancer
|
Uterine leiomyoma
Autosomal dominant inheritance
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
Orphanet:523
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KEGG:H00804
Gene Reviews
GTR:C1708350
|
3308 (4.0%)
|
Sudden infant death-dysgenesis of the testes syndrome
|
Cryptorchidism
Autosomal recessive inheritance
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Orphanet:168593
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KEGG:H02174
GTR:C1837371
|
3308 (4.0%)
|
Hyperplastic polyposis syndrome
|
Colitis
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Orphanet:157798
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|
3308 (4.0%)
|
Succinic semialdehyde dehydrogenase deficiency
|
Aniridia
Autosomal recessive inheritance
A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Orphanet:22
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KEGG:H00835
Gene Reviews
GTR:C0268631
|
3308 (4.0%)
|
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
|
Syncope
Autosomal dominant inheritance
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.
Orphanet:300751
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Gene Reviews
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