ODCs

Click node...

Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

McKusick-Kaufman syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Cerebellar ataxia - hypogonadism

McKusick-Kaufman syndrome

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


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

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		McKusick-Kaufman syndrome
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Hydrometrocolpos - postaxial polydactyly - Kaufman-Mckusick syndrome

	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

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538159


COMMON SIGNS	- Short stature / dwarfism / nanism

Cerebellar ataxia - hypogonadism		McKusick-Kaufman syndrome
	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 - Hypotonia Occasional - Brachycephaly / flat occiput - Clinodactyly of fifth finger - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Supernumerary nipples / polythelia		Very frequent - Autosomal recessive inheritance - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Frequent - Hypospadias / epispadias / bent penis - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypoplastic left heart / ventricle - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Multicystic kidney / renal dysplasia - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Tarsal anomaly / fusion / synostosis - Tetralogy of Fallot / trilogy of Fallot - Urethral anomalies / stenosis / posterior urethral valves / megalocystis - Ventricular septal defect / interventricular communication