ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Brachydactyly type E

Rubinstein-Taybi syndrome due to CREBBP mutations

HOXD13	(UniProt - OMIM)		CREBBP	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HOXD13	(0.56)	CREBBP

Citations in the biomedical literature:

Brachydactyly type E		Rubinstein-Taybi syndrome due to CREBBP mutations

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Brachydactyly type E
	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
Rubinstein-Taybi syndrome due to CREBBP mutations
(no data available)