ODCs

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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
30 signs/symptoms

Cerebellar ataxia - hypogonadism

X-linked distal arthrogryposis multiplex congenita

PNPLA6	(UniProt - OMIM)	UBA1	(UniProt - OMIM)
RNF216	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.56)	UBA1

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		X-linked distal arthrogryposis multiplex congenita
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535380


COMMON SIGNS	- Hypotonia

Cerebellar ataxia - hypogonadism		X-linked distal arthrogryposis multiplex congenita
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Ataxia / incoordination / trouble of the equilibrium - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Late puberty / hypogonadism / hypogenitalism - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinitis pigmentosa / retinal pigmentary changes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Sterility / hypofertility Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Brachycephaly / flat occiput - Clinodactyly of fifth finger - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Short stature / dwarfism / nanism - Supernumerary nipples / polythelia		Very frequent - Abnormal gait - Camptodactyly of fingers - Restricted joint mobility / joint stiffness / ankylosis - X-linked recessive inheritance Frequent - Broad nose / nasal bridge - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Dolichocephaly / scaphocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Proximally set thumb - Scoliosis - Short neck - Short / small nose - Simian crease / transverse / unique palmar crease - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormally placed nipples - Dermoid sinus / dimple / pit (excluding sacral) - Excess nuchal skin without pterygium colli - Long / large ear - Micropenis / small penis / agenesis - Mouth held open - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Thin / hypoplastic / hyperconvex fingernails