Metaphyseal chondrodysplasia, jansen type

Preferred Label : Metaphyseal chondrodysplasia, jansen type;

Symbol : MCDJ;

CISMeF acronym : MCDJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia, murk jansen type;

Description : The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the parathyoid hormone receptor 1 gene (PTHR1, 168468.0001);

Laboratory abnormalities : Hypophosphatemia; Hypercalciuria; Hyperphosphaturia; Parathyroid hormone-related peptide (PTHrP) absent to low; Parathyroid hormone (PTH) absent to low; Elevated alkaline phosphatase; Elevated 1,25(OH)2 D3; Increased urinary excretion of cAMP; Hypercalcemia;

Prefixed ID : #156400;

Details

Origin ID

156400;

UMLS CUI

C0265295;

Automatic exact mappings (from CISMeF team)
- Jansen's metaphyseal chondrodysplasia [DO Concept]
Currated CISMeF NLP mapping
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]
DO Cross reference
- Jansen's metaphyseal chondrodysplasia [DO Concept]
Genes related to phenotype
- Parathyroid hormone 1 receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Brachycephaly [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clubbing of fingers [HPO term]
- Deafness [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Hearing impairment [HPO term]
- Hip contracture [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypertelorism [HPO term]
- Hypoparathyroidism [HPO term]
- Hypophosphatemia [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal cupping [HPO term]
- Micrognathia [HPO term]
- Nephrocalcinosis [HPO term]
- Osteopenia [HPO term]
- Parathyroid hormone absent to low [HPO term]
- Pathologic fracture [HPO term]
- Prominent eyes [HPO term]
- Prominent supraorbital arches in adult [HPO term]
- Proptosis [HPO term]
- Severe short stature [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Thick skull base [HPO term]
- Tooth malposition [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]

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