ODCs

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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Craniolenticulosutural dysplasia

1 OMIM reference -
1 associated gene
34 signs/symptoms

Cerebellar ataxia - hypogonadism

Craniolenticulosutural dysplasia

PNPLA6	(UniProt - OMIM)	SEC23A	(UniProt - OMIM)
RNF216	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.49)	SEC23A

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Craniolenticulosutural dysplasia
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Boyadjiev-Jabs syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cerebellar ataxia - hypogonadism		Craniolenticulosutural dysplasia
	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 - Sterility / hypofertility Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia Occasional - Brachycephaly / flat occiput - Clinodactyly of fifth finger - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Supernumerary nipples / polythelia		Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Brittle hair / distrix / trichorrhexis - Broad nose / nasal bridge - Cataract / lens opacification - Coarse / thick hair - Complete / partial microdontia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Frontal bossing / prominent forehead - High nasal bridge - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Large fontanelle / delayed fontanelle closure - Long philtrum - Macrostomia / big mouth - Multiple caries - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Philtrum flat / large / featureless / absent cupidon bows - Poorly ossified skull / calvarium - Prominent supraorbital ridge - Scoliosis - Thin / retracted lips Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Flat foot - Narrow rib cage / thorax - Narrow / sloping shoulders - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity