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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Cerebellar ataxia - hypogonadism

DPM1-CDG

PNPLA6	(UniProt - OMIM)		DPM1	(UniProt - OMIM)
RNF216	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.63)	DPM1

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		DPM1-CDG
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - CDG syndrome type Ie - CDG-Ie - CDG1E - Carbohydrate deficient glycoprotein syndrome type Ie - Congenital disorder of glycosylation type 1e - Congenital disorder of glycosylation type Ie - Dol-P-mannosyltransferase deficiency

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Hypotonia

Cerebellar ataxia - hypogonadism		DPM1-CDG
	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 - Anomalies of eyes and vision - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus