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Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Laron syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
Cerebellar ataxia - hypogonadism
Laron syndrome

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STUB1
(0.68)
GHR


Citations in the biomedical literature:


Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1
Laron syndrome
GHR



Cerebellar ataxia - hypogonadism
Laron syndrome

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia
Synonym(s):
- Complete growth hormone insensitivity
- GH receptor deficiency
- Growth hormone receptor deficiency
- Laron-type dwarfism
- Primary GH insensitivity
- Primary GH resistance
- Primary growth hormone insensitivity
- Primary growth hormone resistance
- Short stature due to growth hormone resistance
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046150
COMMON
SIGNS 		- Late puberty / hypogonadism / hypogenitalism
- Short stature / dwarfism / nanism

Cerebellar ataxia - hypogonadism
Laron 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
- 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
- Anodontia / oligodontia / hypodontia
- Anomalies of the endocrine glands
- Autosomal recessive inheritance
- Complete / partial microdontia
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- High forehead
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Truncal obesity

Frequent
- Elbow anomalies(excluding luxation)
- Flat supraorbital ridge
- Hypoglycemia
- Micropenis / small penis / agenesis
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short foot / brachydactyly of toes
- Short hand / brachydactyly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Blue sclerae
- Flattened nose
- Hairy patch
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteoarthritis
- Premature ageing
- Skull / cranial anomalies