MCID: MTT002
MIFTS: 37

Metatropic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Metatropic Dysplasia

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metatropic Dysplasia:

Name: Metatropic Dysplasia 49 11 45 22 23 51 67
Metatropic Dwarfism 45 23 51 67
Metatropic Dysplasia Type 1 23 65
 
Metatropic Dysplasia, Nonlethal Dominant 45
Mtd 67

Characteristics:

Orphanet epidemiological data:

51
metatropic dysplasia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

61
metatropic dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 156530
Orphanet51 2635
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C537356
UMLS via Orphanet66 C0265281
MedGen34 C0265281
MeSH36 D001848
UMLS65 C3711162

Summaries for Metatropic Dysplasia

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NIH Rare Diseases:45 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 based summary: Metatropic Dysplasia, also known as metatropic dwarfism, is related to spondylometaphyseal dysplasia, kozlowski type and kniest dysplasia, and has symptoms including long thorax, rough bone trabeculation and depressed nasal bridge. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, lung and endothelial.

UniProtKB/Swiss-Prot:67 Metatropic dysplasia: A severe spondyloepimetaphyseal dysplasia 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.

Genetics Home Reference:23 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.

OMIM:49 Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe... (156530) more...

Related Diseases for Metatropic Dysplasia

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Graphical network of diseases related to Metatropic Dysplasia:



Diseases related to metatropic dysplasia

Symptoms for Metatropic Dysplasia

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Symptoms by clinical synopsis from OMIM:

156530

Clinical features from OMIM:

156530

Symptoms:

 51 (show all 26)
  • high forehead
  • 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
  • rough trabeculation of bone
  • metaphyseal anomaly
  • 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

HPO human phenotypes related to Metatropic Dysplasia:

(show all 43)
id Description Frequency HPO Source Accession
1 long thorax hallmark (90%) HP:0100818
2 rough bone trabeculation hallmark (90%) HP:0100670
3 depressed nasal bridge hallmark (90%) HP:0005280
4 abnormality of the intervertebral disk hallmark (90%) HP:0005108
5 abnormality of bone mineral density hallmark (90%) HP:0004348
6 abnormal cortical bone morphology hallmark (90%) HP:0003103
7 micromelia hallmark (90%) HP:0002983
8 kyphosis hallmark (90%) HP:0002808
9 scoliosis hallmark (90%) HP:0002650
10 limitation of joint mobility hallmark (90%) HP:0001376
11 narrow chest hallmark (90%) HP:0000774
12 abnormality of the ribs hallmark (90%) HP:0000772
13 high forehead hallmark (90%) HP:0000348
14 camptodactyly of finger occasional (7.5%) HP:0100490
15 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
16 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
17 cataract occasional (7.5%) HP:0000518
18 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
19 hydrocephalus occasional (7.5%) HP:0000238
20 cleft palate occasional (7.5%) HP:0000175
21 peripheral axonal neuropathy rare (5%) HP:0003477
22 fetal akinesia sequence rare (5%) HP:0001989
23 short finger HP:0009381
24 flared humeral metaphysis HP:0003911
25 abnormal metaphyseal vascular invasion HP:0003562
26 severe short stature HP:0003510
27 abnormal enchondral ossification HP:0003336
28 absent primary metaphyseal spongiosa HP:0003332
29 anisospondyly HP:0002879
30 respiratory failure HP:0002878
31 flared femoral metaphysis HP:0002834
32 long coccyx HP:0002831
33 halberd-shaped pelvis HP:0002826
34 caudal appendage HP:0002825
35 hyperplasia of the femoral trochanters HP:0002822
36 dumbbell-shaped metaphyses HP:0002810
37 kyphosis HP:0002808
38 relatively short spine HP:0002766
39 epiphyseal dysplasia HP:0002656
40 scoliosis HP:0002650
41 brachydactyly syndrome HP:0001156
42 platyspondyly HP:0000926
43 narrow chest HP:0000774

Drugs & Therapeutics for Metatropic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metatropic Dysplasia

Genetic Tests for Metatropic Dysplasia

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Genetic tests related to Metatropic Dysplasia:

id Genetic test Affiliating Genes
1 Metatropic Dysplasia22 TRPV4

Anatomical Context for Metatropic Dysplasia

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MalaCards organs/tissues related to Metatropic Dysplasia:

33
Bone, Lung, Endothelial, Thyroid, Skin, Monocytes, Testis

Animal Models for Metatropic Dysplasia or affiliated genes

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Publications for Metatropic Dysplasia

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Articles related to Metatropic Dysplasia:

(show all 23)
idTitleAuthorsYear
1
Metatropic dysplasia is associated with increased fracture risk. (26823048)
2016
2
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. (26249260)
2015
3
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. (24223250)
2013
4
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. (24121766)
2013
5
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. (22764341)
2012
6
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
7
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (20425821)
2010
8
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)
2009
9
Metatropic dysplasia in children. (18285743)
2008
10
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. (18348257)
2008
11
Metatropic dysplasia. (18245944)
2008
12
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. (17879966)
2007
13
Operative treatment of bilateral hip dislocations in a child with metatropic dysplasia. (17273034)
2007
14
Lethal metatropic dysplasia: a case report. (17365839)
2007
15
Cervical spinal stenosis in metatropic dysplasia. (16670547)
2006
16
Long-term follow-up in a patient with metatropic dysplasia. (15889420)
2005
17
Metatropic dysplasia lethal variants. (14566438)
2004
18
Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. (10507892)
1998
19
A distinct subtype of &quot;metatropic dysplasia variant&quot; characterised by advanced carpal skeletal age and subluxation of the radial heads. (9472061)
1998
20
Metatropic dysplasia: a case report. (7779195)
1995
21
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. (2915283)
1989
22
Metatropic dysplasia and its variants (analysis of 14 cases). (3202745)
1988
23
Heterogeneity of metatropic dysplasia. (6628444)
1983

Variations for Metatropic Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Metatropic Dysplasia:

67 (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

Clinvar genetic disease variations for Metatropic Dysplasia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.2395C> G (p.Pro799Ala)single nucleotide variantPathogenicrs267607147GRCh37Chr 12, 110222184: 110222184
2TRPV4NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser)single nucleotide variantPathogenicrs267607147GRCh37Chr 12, 110222184: 110222184
3TRPV4NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg)single nucleotide variantPathogenicrs121912637GRCh37Chr 12, 110222183: 110222183
4TRPV4TRPV4, 3-BP DEL, 1411TTCdeletionPathogenic
5TRPV4NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys)single nucleotide variantPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
6TRPV4NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile)single nucleotide variantPathogenicrs397514473GRCh37Chr 12, 110252336: 110252336
7TRPV4NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg)single nucleotide variantPathogenicrs387906903GRCh37Chr 12, 110240918: 110240918
8TRPV4NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp)single nucleotide variantPathogenicrs397514474GRCh37Chr 12, 110252370: 110252370
9TRPV4NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile)single nucleotide variantPathogenicrs387906906GRCh37Chr 12, 110224632: 110224632
10TRPV4NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu)single nucleotide variantPathogenicrs387906907GRCh37Chr 12, 110238450: 110238450
11TRPV4NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe)single nucleotide variantPathogenicrs121912636GRCh37Chr 12, 110236580: 110236580
12TRPV4NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu)single nucleotide variantPathogenicrs121912637GRCh37Chr 12, 110222183: 110222183

Expression for genes affiliated with Metatropic Dysplasia

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Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for genes affiliated with Metatropic Dysplasia

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GO Terms for genes affiliated with Metatropic Dysplasia

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Sources for Metatropic Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet