MCID: MTT002
MIFTS: 32

Metatropic Dysplasia malady

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

Aliases & Classifications for Metatropic Dysplasia

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metatropic Dysplasia:

Name: Metatropic Dysplasia 50 46 23 24 52 68 12
Metatropic Dwarfism 46 24 52 68
Metatropic Dysplasia Type 1 24 66
 
Metatropic Dysplasia, Nonlethal Dominant 46
Mtd 68

Characteristics:

Orphanet epidemiological data:

52
metatropic dysplasia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
metatropic dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 156530
Orphanet52 ORPHA2635
ICD10 via Orphanet29 Q77.8
MESH via Orphanet38 C537356
UMLS via Orphanet67 C0265281
MedGen35 C0265281
MeSH37 D001848

Summaries for Metatropic Dysplasia

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NIH Rare Diseases:46 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 high forehead, abnormality of the ribs and narrow chest. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and lung.

UniProtKB/Swiss-Prot:68 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:24 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:50 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:

 52 (show all 26)
  • cleft palate
  • hydrocephalus
  • high forehead
  • low-set, posteriorly rotated ears
  • cataract
  • abnormality of the ribs
  • narrow chest
  • abnormality of the metaphyses
  • joint stiffness
  • scoliosis
  • skeletal dysplasia
  • kyphosis
  • halberd-shaped pelvis
  • micromelia
  • abnormal cortical bone morphology
  • abnormal form of the vertebral bodies
  • abnormal enchondral ossification
  • severe short stature
  • clinodactyly of the 5th finger
  • abnormality of the intervertebral disk
  • depressed nasal bridge
  • aplasia/hypoplasia of the lungs
  • hypoplastic cervical vertebrae
  • camptodactyly of finger
  • rough bone trabeculation
  • long thorax

HPO human phenotypes related to Metatropic Dysplasia:

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

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 Dysplasia23 TRPV4

Anatomical Context for Metatropic Dysplasia

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MalaCards organs/tissues related to Metatropic Dysplasia:

34
Bone, Lung

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 25)
idTitleAuthorsYear
1
Metatropic Dysplasia with a Novel Mutation in TRPV4. (27567651)
2016
2
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. (27530454)
2016
3
Metatropic dysplasia is associated with increased fracture risk. (26823048)
2016
4
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. (26249260)
2015
5
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. (24223250)
2013
6
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. (24121766)
2013
7
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. (22764341)
2012
8
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
9
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (20425821)
2010
10
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)
2009
11
Metatropic dysplasia in children. (18285743)
2008
12
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. (18348257)
2008
13
Metatropic dysplasia. (18245944)
2008
14
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. (17879966)
2007
15
Operative treatment of bilateral hip dislocations in a child with metatropic dysplasia. (17273034)
2007
16
Lethal metatropic dysplasia: a case report. (17365839)
2007
17
Cervical spinal stenosis in metatropic dysplasia. (16670547)
2006
18
Long-term follow-up in a patient with metatropic dysplasia. (15889420)
2005
19
Metatropic dysplasia lethal variants. (14566438)
2004
20
A distinct subtype of &quot;metatropic dysplasia variant&quot; characterised by advanced carpal skeletal age and subluxation of the radial heads. (9472061)
1998
21
Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. (10507892)
1998
22
Metatropic dysplasia: a case report. (7779195)
1995
23
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. (2915283)
1989
24
Metatropic dysplasia and its variants (analysis of 14 cases). (3202745)
1988
25
Heterogeneity of metatropic dysplasia. (6628444)
1983

Variations for Metatropic Dysplasia

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

68 (show all 17)
id Symbol AA change Variation ID SNP ID
1TRPV4p.Ile331PheVAR_062331rs121912636
2TRPV4p.Pro799LeuVAR_062335rs121912637
3TRPV4p.Thr89IleVAR_064517rs397514473
4TRPV4p.Lys197ArgVAR_064519rs387906903
5TRPV4p.Leu199PheVAR_064520rs515726167
6TRPV4p.Thr295AlaVAR_064522rs515726171
7TRPV4p.Ile331ThrVAR_064523rs515726172
8TRPV4p.Val342PheVAR_064524rs515726152
9TRPV4p.Phe592LeuVAR_064526rs515726158
10TRPV4p.Ile604MetVAR_064530rs515726161
11TRPV4p.Phe617LeuVAR_064531rs515726162
12TRPV4p.Leu618ProVAR_064532rs515726163
13TRPV4p.Arg775LysVAR_064535
14TRPV4p.Glu797LysVAR_064537rs267607149
15TRPV4p.Pro799AlaVAR_064538rs267607147
16TRPV4p.Pro799ArgVAR_064539rs121912637
17TRPV4p.Pro799SerVAR_064540rs267607147

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet