MCID: MTT002
MIFTS: 30

Metatropic Dysplasia malady

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

Aliases & Classifications for Metatropic Dysplasia

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Metatropic Dysplasia:

Name: Metatropic Dysplasia 52 48 24 25 54 70 12
Metatropic Dwarfism 48 25 54 70
Metatropic Dysplasia Type 1 25 68
 
Metatropic Dysplasia, Nonlethal Dominant 48
Mtd 70

Characteristics:

Orphanet epidemiological data:

54
metatropic dysplasia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

64
metatropic dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 156530
Orphanet54 ORPHA2635
ICD10 via Orphanet31 Q77.8
MESH via Orphanet40 C537356
UMLS via Orphanet69 C0265281
MedGen37 C0265281
MeSH39 D001848

Summaries for Metatropic Dysplasia

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NIH Rare Diseases:48 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 kniest dysplasia and cervicitis, 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:70 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:25 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:52 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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Diseases related to Metatropic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kniest dysplasia10.9
2cervicitis10.0
3eclampsia9.9
4spondylometaphyseal dysplasia, kozlowski type9.8
5spinal stenosis9.8
6neuropathy9.8

Graphical network of diseases related to Metatropic Dysplasia:



Diseases related to metatropic dysplasia

Symptoms & Phenotypes for Metatropic Dysplasia

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Symptoms by clinical synopsis from OMIM:

156530

Clinical features from OMIM:

156530

Human phenotypes related to Metatropic Dysplasia:

 64 54 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000348
2 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
3 narrow chest64 54 hallmark (90%) Very frequent (99-80%) HP:0000774
4 limitation of joint mobility64 hallmark (90%) HP:0001376
5 scoliosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002650
6 kyphosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002808
7 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
8 abnormal cortical bone morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0003103
9 abnormality of bone mineral density64 hallmark (90%) HP:0004348
10 abnormality of the intervertebral disk64 54 hallmark (90%) Very frequent (99-80%) HP:0005108
11 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
12 rough bone trabeculation64 54 hallmark (90%) Very frequent (99-80%) HP:0100670
13 long thorax64 54 hallmark (90%) Very frequent (99-80%) HP:0100818
14 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
15 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
16 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
17 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
18 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
19 aplasia/hypoplasia of the lungs64 54 occasional (7.5%) Occasional (29-5%) HP:0006703
20 camptodactyly of finger64 54 occasional (7.5%) Occasional (29-5%) HP:0100490
21 fetal akinesia sequence64 rare (5%) HP:0001989
22 peripheral axonal neuropathy64 rare (5%) HP:0003477
23 platyspondyly64 HP:0000926
24 brachydactyly syndrome64 HP:0001156
25 epiphyseal dysplasia64 HP:0002656
26 relatively short spine64 HP:0002766
27 dumbbell-shaped metaphyses64 HP:0002810
28 hyperplasia of the femoral trochanters64 HP:0002822
29 caudal appendage64 HP:0002825
30 halberd-shaped pelvis64 54 Very frequent (99-80%) HP:0002826
31 long coccyx64 HP:0002831
32 flared femoral metaphysis64 HP:0002834
33 respiratory failure64 HP:0002878
34 anisospondyly64 HP:0002879
35 absent primary metaphyseal spongiosa64 HP:0003332
36 abnormal enchondral ossification64 54 Very frequent (99-80%) HP:0003336
37 severe short stature64 54 Very frequent (99-80%) HP:0003510
38 abnormal metaphyseal vascular invasion64 HP:0003562
39 flared humeral metaphysis64 HP:0003911
40 short finger64 HP:0009381
41 abnormality of the metaphyses54 Very frequent (99-80%)
42 joint stiffness54 Very frequent (99-80%)
43 skeletal dysplasia54 Very frequent (99-80%)
44 abnormal form of the vertebral bodies54 Very frequent (99-80%)
45 hypoplastic cervical vertebrae54 Very frequent (99-80%)

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 Dysplasia24 TRPV4

Anatomical Context for Metatropic Dysplasia

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MalaCards organs/tissues related to Metatropic Dysplasia:

36
Bone, Lung

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 "metatropic dysplasia variant" 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:

70 (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)SNVPathogenicrs267607147GRCh37Chr 12, 110222184: 110222184
2TRPV4NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser)SNVPathogenicrs267607147GRCh37Chr 12, 110222184: 110222184
3TRPV4NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg)SNVPathogenicrs121912637GRCh37Chr 12, 110222183: 110222183
4TRPV4TRPV4, 3-BP DEL, 1411TTCdeletionPathogenicChr na, -1: -1
5TRPV4NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys)SNVPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
6TRPV4NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile)SNVPathogenicrs397514473GRCh37Chr 12, 110252336: 110252336
7TRPV4NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg)SNVPathogenicrs387906903GRCh37Chr 12, 110240918: 110240918
8TRPV4NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp)SNVPathogenicrs397514474GRCh37Chr 12, 110252370: 110252370
9TRPV4NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile)SNVPathogenicrs387906906GRCh37Chr 12, 110224632: 110224632
10TRPV4NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu)SNVPathogenicrs387906907GRCh37Chr 12, 110238450: 110238450
11TRPV4NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe)SNVPathogenicrs121912636GRCh37Chr 12, 110236580: 110236580
12TRPV4NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu)SNVPathogenicrs121912637GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet