ODCs

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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Systemic-onset juvenile idiopathic arthritis

1 OMIM reference -
2 associated genes
13 signs/symptoms

Cerebellar ataxia - hypogonadism

Systemic-onset juvenile idiopathic arthritis

PNPLA6	(UniProt - OMIM)	IL6	(UniProt - OMIM)
RNF216	(UniProt - OMIM)	MIF	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Systemic-onset juvenile idiopathic arthritis
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Still disease - Systemic polyarthritis

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare respiratory disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: unknown

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

Cerebellar ataxia - hypogonadism		Systemic-onset juvenile idiopathic arthritis
	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		Very frequent - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Autoimmunity / autoimmune reaction / autoantibodies - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cutaneous rash - Fever / chilling - Hydrarthrosis / articular / joint effusion Frequent - Mediastinal / hilar adenopathies Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Acute abdominal pain / colic - Hepatomegaly / liver enlargement (excluding storage disease) - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Splenomegaly