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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Nephrogenic diabetes insipidus
Cerebellar ataxia - hypogonadism

AQP2 PNPLA6
AVPR2 RNF216
STUB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AVPR2
(0.63)
STUB1



Citations in the biomedical literature:


Nephrogenic diabetes insipidus
AQP2 AVPR2
Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1



Nephrogenic diabetes insipidus
Cerebellar ataxia - hypogonadism

Synonym(s):
(no synonyms)

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D018500
External references:
2 OMIM references -
No MeSH references

Cerebellar ataxia - hypogonadism

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
- Short stature / dwarfism / nanism
- Supernumerary nipples / polythelia


Nephrogenic diabetes insipidus

(no data available)