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Brachydactyly type E

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Dental ankylosis

1 associated gene
6 signs/symptoms

Brachydactyly type E

Dental ankylosis

HOXD13	(UniProt - OMIM)		PTH1R	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTHLH	(0.85)	PTH1R

Citations in the biomedical literature:

Brachydactyly type E		Dental ankylosis
	Synonym(s): (no synonyms)		Synonym(s): - Ankylosis of teeth

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare odontologic disease

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

	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: No OMIM references 1 MeSH reference: D020254


COMMON SIGNS	- Autosomal dominant inheritance

Brachydactyly type E		Dental ankylosis
	Very frequent - 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 - Anodontia / oligodontia / hypodontia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Enamel anomaly Occasional - Clinodactyly of fifth finger - Prognathism / prognathia