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Metaphyseal chondrodysplasia, Jansen type
1 OMIM reference -
1 associated gene
13 connected diseases
20 signs/symptoms
Disease Type of connection
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Enchondromatosis
Brachydactyly type E
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial isolated hypoparathyroidism due to impaired PTH secretion
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537564
Gene symbol UniProt reference OMIM reference
PTH1R Q03431168468
Very frequent
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Frontal bossing / prominent forehead
- Hypertelorism
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Proptosis / exophthalmos
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Clinodactyly of fifth finger
- Enlarged diaphysis / diaphyses
- Hypercalcemia
- Hypoparathyroidy
- Hypoplastic mandibula / partial absence of the mandibula
- Narrow rib cage / thorax
- Osteosclerosis / osteopetrosis / bone condensation
- Phosphocalcic metabolism anomalies
- Short hand / brachydactyly

Occasional
- Sensorineural deafness / hearing loss