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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Dental ankylosis
Brachydactyly type E

PTH1R HOXD13
PTHLH


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dental ankylosis
PTH1R
Brachydactyly type E
HOXD13 PTHLH



Dental ankylosis
Brachydactyly type E

Synonym(s):
- Ankylosis of teeth

Synonym(s):
(no synonyms)

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

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

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

External references:
No OMIM references
1 MeSH reference: D020254
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Dental ankylosis
Brachydactyly type E

Very frequent
- Anodontia / oligodontia / hypodontia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Enamel anomaly

Occasional
- Clinodactyly of fifth finger
- Prognathism / prognathia


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