MTD
MCID: MTT002
MIFTS: 30

Metatropic Dysplasia (MTD) malady

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

Aliases & Classifications for Metatropic Dysplasia

About this section
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

About this section
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 Array, Array and Array. 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: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...

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.

Related Diseases for Metatropic Dysplasia

About this section

Diseases related to Metatropic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kniest dysplasia10.9
2cervicitis10.0
3spondylometaphyseal dysplasia, kozlowski type9.8
4spinal stenosis9.8
5neuropathy9.8
6skeletal dysplasias9.8
7skeletal dysplasia9.8
8pre-eclampsia9.8
9eclampsia9.8

Graphical network of diseases related to Metatropic Dysplasia:



Diseases related to metatropic dysplasia

Symptoms & Phenotypes for Metatropic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

156530

Clinical features from OMIM:

156530

Human phenotypes related to Metatropic Dysplasia:

 54 64 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 Occasional (29-5%) HP:0000175
2 hydrocephalus64 54 Occasional (29-5%) HP:0000238
3 high forehead64 54 Very frequent (99-80%) HP:0000348
4 low-set, posteriorly rotated ears64 54 Occasional (29-5%) HP:0000368
5 cataract64 54 Occasional (29-5%) HP:0000518
6 abnormality of the ribs64 54 Very frequent (99-80%) HP:0000772
7 narrow chest64 54 Very frequent (99-80%) HP:0000774
8 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
9 joint stiffness64 54 Very frequent (99-80%) HP:0001387
10 scoliosis64 54 Very frequent (99-80%) HP:0002650
11 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
12 kyphosis64 54 Very frequent (99-80%) HP:0002808
13 halberd-shaped pelvis64 54 Very frequent (99-80%) HP:0002826
14 micromelia64 54 Very frequent (99-80%) HP:0002983
15 abnormal cortical bone morphology64 54 Very frequent (99-80%) HP:0003103
16 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
17 abnormal enchondral ossification64 54 Very frequent (99-80%) HP:0003336
18 severe short stature64 54 Very frequent (99-80%) HP:0003510
19 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
20 abnormality of the intervertebral disk64 54 Very frequent (99-80%) HP:0005108
21 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
22 aplasia/hypoplasia of the lungs64 54 Occasional (29-5%) HP:0006703
23 hypoplastic cervical vertebrae64 54 Very frequent (99-80%) HP:0008434
24 camptodactyly of finger64 54 Occasional (29-5%) HP:0100490
25 rough bone trabeculation64 54 Very frequent (99-80%) HP:0100670
26 long thorax64 54 Very frequent (99-80%) HP:0100818
27 platyspondyly64 HP:0000926
28 brachydactyly syndrome64 HP:0001156
29 flexion contracture64 HP:0001371
30 fetal akinesia sequence64 HP:0001989
31 epiphyseal dysplasia64 HP:0002656
32 relatively short spine64 HP:0002766
33 dumbbell-shaped metaphyses64 HP:0002810
34 hyperplasia of the femoral trochanters64 HP:0002822
35 caudal appendage64 HP:0002825
36 long coccyx64 HP:0002831
37 flared femoral metaphysis64 HP:0002834
38 respiratory failure64 HP:0002878
39 anisospondyly64 HP:0002879
40 absent primary metaphyseal spongiosa64 HP:0003332
41 peripheral axonal neuropathy64 HP:0003477
42 abnormal metaphyseal vascular invasion64 HP:0003562
43 flared humeral metaphysis64 HP:0003911
44 short finger64 HP:0009381

Drugs & Therapeutics for Metatropic Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metatropic Dysplasia

Genetic Tests for Metatropic Dysplasia

About this section

Genetic tests related to Metatropic Dysplasia:

id Genetic test Affiliating Genes
1 Metatropic Dysplasia24 TRPV4

Anatomical Context for Metatropic Dysplasia

About this section

MalaCards organs/tissues related to Metatropic Dysplasia:

36
Bone, Lung

Publications for Metatropic Dysplasia

About this section

Articles related to Metatropic Dysplasia:

(show all 27)
idTitleAuthorsYear
1
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. (28414187)
2017
2
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. (28321993)
2017
3
Metatropic Dysplasia with a Novel Mutation in TRPV4. (27567651)
2016
4
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. (27530454)
2016
5
Metatropic dysplasia is associated with increased fracture risk. (26823048)
2016
6
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. (26249260)
2015
7
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. (24121766)
2013
8
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. (24223250)
2013
9
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. (22764341)
2012
10
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
11
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (20425821)
2010
12
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)
2009
13
Metatropic dysplasia. (18245944)
2008
14
Metatropic dysplasia in children. (18285743)
2008
15
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. (18348257)
2008
16
Operative treatment of bilateral hip dislocations in a child with metatropic dysplasia. (17273034)
2007
17
Lethal metatropic dysplasia: a case report. (17365839)
2007
18
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. (17879966)
2007
19
Cervical spinal stenosis in metatropic dysplasia. (16670547)
2006
20
Long-term follow-up in a patient with metatropic dysplasia. (15889420)
2005
21
Metatropic dysplasia lethal variants. (14566438)
2004
22
Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. (10507892)
1998
23
A distinct subtype of "metatropic dysplasia variant" characterised by advanced carpal skeletal age and subluxation of the radial heads. (9472061)
1998
24
Metatropic dysplasia: a case report. (7779195)
1995
25
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. (2915283)
1989
26
Metatropic dysplasia and its variants (analysis of 14 cases). (3202745)
1988
27
Heterogeneity of metatropic dysplasia. (6628444)
1983

Variations for Metatropic Dysplasia

About this section

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, 1411TTCdeletionPathogenic
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

About this section
Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for genes affiliated with Metatropic Dysplasia

About this section

GO Terms for genes affiliated with Metatropic Dysplasia

About this section

Sources for Metatropic Dysplasia

About this section
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