MCID: MTT002
MIFTS: 32

Metatropic Dysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Metatropic Dysplasia

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. this condition, caused by mutations in the trpv4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner. treatment is symptomatic and supportive. last updated: 1/12/2010

MalaCards: Metatropic Dysplasia, also known as metatropic dwarfism, is related to dwarfism and kniest dysplasia, and has symptoms including cortical anomaly/thick bone cortical layer, restricted joint mobility/joint stiffness/ankylosis and autosomal recessive inheritance. An important gene associated with Metatropic Dysplasia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone and lung.

Genetics Home Reference:21 Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.

Description from OMIM:46 156530

Aliases & Classifications for Metatropic Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
metatropic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

metatropic dysplasia 42 20 21 46 48
metatropic dwarfism 42 21 48
metatropic dysplasia, nonlethal dominant 42
metatropic dysplasia type 1 21


External Ids:

OMIM46 156530
MESH via Orphanet35 C537356
ICD10 via Orphanet26 Q77.8
SNOMED-CT via Orphanet57 22764001
UMLS via Orphanet61 C0265281

Related Diseases for Metatropic Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Metatropic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.5
2kniest dysplasia10.3
3cervicitis10.3
4spinal stenosis10.1
5neuropathy10.1
6muscular atrophy10.0TRPV4

Graphical network of diseases related to Metatropic Dysplasia:



Diseases related to metatropic dysplasia

Clinical Features for Metatropic Dysplasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

156530

Clinical synopsis from OMIM:

156530

Symptoms:

48 (show all 26)
  • cortical anomaly/thick bone cortical layer
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • cataract/lens opacification
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • hydrocephaly
  • metaphyseal anomaly
  • rough trabeculation of bone
  • depressed nasal bridge
  • narrow rib cage/thorax
  • long rib cage/thorax
  • anomalies of the ribs
  • kyphosis
  • scoliosis
  • abnormal vertebral size/shape
  • intervertebral disk anomaly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short limbs/micromelia/brachymelia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • abnormal/absent ossification
  • high forehead

Drugs & Therapeutics for Metatropic Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Metatropic Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Metatropic Dysplasia

Search CenterWatch for Metatropic Dysplasia

Genetic Tests for Metatropic Dysplasia

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20GeneTests
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Genetic tests related to Metatropic Dysplasia:

id Genetic test Affiliating Genes
1 Metatropic Dysplasia20 TRPV4

Anatomical Context for Metatropic Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Metatropic Dysplasia:

32
Bone, Lung

Animal Models for Metatropic Dysplasia or affiliated genes

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Publications for Metatropic Dysplasia

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Genetic Variations for Metatropic Dysplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Metatropic Dysplasia:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1TRPV4p.Ile331PheVAR_062331
2TRPV4p.Pro799LeuVAR_062335
3TRPV4p.Thr89IleVAR_064517
4TRPV4p.Lys197ArgVAR_064519
5TRPV4p.Leu199PheVAR_064520
6TRPV4p.Thr295AlaVAR_064522
7TRPV4p.Ile331ThrVAR_064523
8TRPV4p.Val342PheVAR_064524
9TRPV4p.Phe592LeuVAR_064526
10TRPV4p.Ile604MetVAR_064530
11TRPV4p.Phe617LeuVAR_064531
12TRPV4p.Leu618ProVAR_064532
13TRPV4p.Arg775LysVAR_064535
14TRPV4p.Glu797LysVAR_064537
15TRPV4p.Pro799AlaVAR_064538
16TRPV4p.Pro799ArgVAR_064539
17TRPV4p.Pro799SerVAR_064540

Expression for genes affiliated with Metatropic Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metatropic Dysplasia

Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for genes affiliated with Metatropic Dysplasia

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Compounds for genes affiliated with Metatropic Dysplasia

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GO Terms for genes affiliated with Metatropic Dysplasia

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Products for genes affiliated with Metatropic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metatropic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet