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Brachydactyly type E

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Systemic-onset juvenile idiopathic arthritis

1 OMIM reference -
2 associated genes
13 signs/symptoms

Brachydactyly type E

Systemic-onset juvenile idiopathic arthritis

HOXD13	(UniProt - OMIM)		IL6	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)		MIF	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTHLH	(0.62)	IL6

Citations in the biomedical literature:

Brachydactyly type E		Systemic-onset juvenile idiopathic arthritis
	Synonym(s): (no synonyms)		Synonym(s): - Still disease - Systemic polyarthritis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare respiratory disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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

Brachydactyly type E		Systemic-onset juvenile idiopathic arthritis
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign Frequent - Hyperextensible joints / articular hyperlaxity - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy		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