3308
(4.0%)

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Recurrent otitis media

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.

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.

3308
(4.0%)

Desquamative interstitial pneumonia

Focal segmental glomerulosclerosis

Autosomal recessive inheritance

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).

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.

3308
(4.0%)

Drug-induced vasculitis

Glomerulonephritis

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.

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.

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.

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.

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.

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.

3308
(4.0%)

Isolated optic nerve hypoplasia/aplasia

Vesicoureteral reflux

Autosomal dominant inheritance

3308
(4.0%)

Ivemark syndrome

Horseshoe kidney

Autosomal recessive inheritance

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.

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.

3308
(4.0%)

Generalized eruptive histiocytosis

Pruritus

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.

3308
(4.0%)

Inferior vena cava interruption without azygos continuation

Cyanosis

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.

3308
(4.0%)

Extramammary Paget disease

Uterine prolapse

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.

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.

3308
(4.0%)

Fibrolamellar hepatocellular carcinoma

Gynecomastia

3308
(4.0%)

Pleomorphic xanthoastrocytoma

Visual loss

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.

3308
(4.0%)

Congenital cerebellar ataxia due to RNU12 mutation

Nystagmus

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.