Metatropic dysplasia

Preferred Label : Metatropic dysplasia;

Symbol : MTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metatropic dwarfism;

Description : Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0006);

Prefixed ID : #156530;

Details

Origin ID

156530;

UMLS CUI

C0265281;

Currated CISMeF NLP mapping
- Metatropic Dysplasia [NCIt concept]
- Metatropic dwarfism [ICD-11 More detail]
- Metatropic dwarfism [PASCAL descriptor]
- Metatropic dwarfism [MedDRA LLT]
- Metatropic dwarfism [MeSH concept]
- Metatropic dysplasia [MedDRA Preferred Term]
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasia (disorder) [SNOMED CT concept]
- Metatropic dysplasias [ORDO Disease]
- metatrophic dysplasia [SNOMED Notion]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dysplasia [DO Concept]
DO Cross reference
- metatropic dysplasia [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- A thin seal of bone at the chondroosseous junction [HPO term]
- Abnormal enchondral ossification [HPO term]
- Abnormal metaphyseal vascular invasion [HPO term]
- Absent primary metaphyseal spongiosa [HPO term]
- Anisospondyly [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Caudal appendage [HPO term]
- Cone-shaped epiphysis [HPO term]
- Cupped ribs [HPO term]
- Decreased fetal movement [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dumbbell-shaped femur [HPO term]
- Dumbbell-shaped metaphyses [HPO term]
- Dwarfism recognizable at birth [HPO term]
- Enlarged joints [HPO term]
- Epiphyseal dysplasia [HPO term]
- Fetal akinesia sequence [HPO term]
- Flared femoral metaphysis [HPO term]
- Flared humeral metaphysis [HPO term]
- Flared iliac wing [HPO term]
- Flared metaphysis [HPO term]
- Flaring of rib cage [HPO term]
- Flat acetabular roof [HPO term]
- Flexion contracture [HPO term]
- Genu valgum [HPO term]
- Halberd-shaped pelvis [HPO term]
- High forehead [HPO term]
- Hyperplasia of the femoral trochanters [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Kyphoscoliosis [HPO term]
- Kyphosis [HPO term]
- Long coccyx [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Narrow greater sciatic notch [HPO term]
- Neonatal onset [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Platyspondyly [HPO term]
- Relatively short spine [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Short finger [HPO term]
- Short ribs [HPO term]
ORDO concept(s)
- Metatropic dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Metatropic Dysplasia [NCIt concept]
- Metatropic dwarfism [MeSH concept]
- Metatropic dwarfism [ICD-11 More detail]
- Metatropic dwarfism [PASCAL descriptor]
- Metatropic dwarfism [MedDRA LLT]
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasia [MedDRA Preferred Term]
- Metatropic dysplasia (disorder) [SNOMED CT concept]
- Metatropic dysplasias [ORDO Disease]
- Metatropic dysplasias [ICD-11 More detail]
- metatrophic dysplasia [SNOMED Notion]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dysplasia [DO Concept]
Validated automatic mappings to NTBT
- Metatropic dysplasias [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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