MTD
MCID: MTT002
MIFTS: 30

Metatropic Dysplasia (MTD) malady

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

Aliases & Classifications for Metatropic Dysplasia

Aliases & Descriptions for Metatropic Dysplasia:

Name: Metatropic Dysplasia 54 50 24 25 56 66 13
Metatropic Dwarfism 50 25 56 66
Metatropic Dysplasia Type 1 25 69
Metatropic Dysplasia, Nonlethal Dominant 50
Mtd 66

Characteristics:

Orphanet epidemiological data:

56
metatropic dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

HPO:

32
metatropic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 156530
Orphanet 56 ORPHA2635
ICD10 via Orphanet 34 Q77.8
MESH via Orphanet 43 C537356
UMLS via Orphanet 70 C0265281
MedGen 40 C0265281
MeSH 42 D001848

Summaries for Metatropic Dysplasia

NIH Rare Diseases : 50 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 joint stiffness, hydrocephalus and scoliosis. 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 : 54 Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe... (156530) more...

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 kniest dysplasia 10.9
2 cervicitis 10.0
3 neuropathy 9.8
4 skeletal dysplasias 9.8
5 skeletal dysplasia 9.8
6 spondylometaphyseal dysplasia, kozlowski type 9.8
7 spinal stenosis 9.8
8 eclampsia 9.8
9 pre-eclampsia 9.8

Graphical network of the top 20 diseases related to Metatropic Dysplasia:



Diseases related to Metatropic Dysplasia

Symptoms & Phenotypes for Metatropic Dysplasia

Symptoms by clinical synopsis from OMIM:

156530

Clinical features from OMIM:

156530

Human phenotypes related to Metatropic Dysplasia:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
2 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
3 scoliosis 56 32 Very frequent (99-80%) HP:0002650
4 kyphosis 56 32 Very frequent (99-80%) HP:0002808
5 cataract 56 32 Occasional (29-5%) HP:0000518
6 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
7 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
8 abnormal cortical bone morphology 56 32 Very frequent (99-80%) HP:0003103
9 cleft palate 56 32 Occasional (29-5%) HP:0000175
10 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
11 narrow chest 56 32 Very frequent (99-80%) HP:0000774
12 micromelia 56 32 Very frequent (99-80%) HP:0002983
13 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
14 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
15 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
16 abnormality of the ribs 56 32 Very frequent (99-80%) HP:0000772
17 severe short stature 56 32 Very frequent (99-80%) HP:0003510
18 high forehead 56 32 Very frequent (99-80%) HP:0000348
19 long thorax 56 32 Very frequent (99-80%) HP:0100818
20 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
21 hypoplastic cervical vertebrae 56 32 Very frequent (99-80%) HP:0008434
22 aplasia/hypoplasia of the lungs 56 32 Occasional (29-5%) HP:0006703
23 abnormality of the intervertebral disk 56 32 Very frequent (99-80%) HP:0005108
24 rough bone trabeculation 56 32 Very frequent (99-80%) HP:0100670
25 halberd-shaped pelvis 56 32 Very frequent (99-80%) HP:0002826
26 abnormal enchondral ossification 56 32 Very frequent (99-80%) HP:0003336
27 flexion contracture 32 HP:0001371
28 epiphyseal dysplasia 32 HP:0002656
29 platyspondyly 32 HP:0000926
30 respiratory failure 32 HP:0002878
31 brachydactyly syndrome 32 HP:0001156
32 short finger 32 HP:0009381
33 anisospondyly 32 HP:0002879
34 peripheral axonal neuropathy 32 HP:0003477
35 fetal akinesia sequence 32 HP:0001989
36 relatively short spine 32 HP:0002766
37 dumbbell-shaped metaphyses 32 HP:0002810
38 hyperplasia of the femoral trochanters 32 HP:0002822
39 caudal appendage 32 HP:0002825
40 long coccyx 32 HP:0002831
41 flared femoral metaphysis 32 HP:0002834
42 absent primary metaphyseal spongiosa 32 HP:0003332
43 abnormal metaphyseal vascular invasion 32 HP:0003562
44 flared humeral metaphysis 32 HP:0003911

Drugs & Therapeutics for Metatropic Dysplasia

Search Clinical Trials , NIH Clinical Center for Metatropic Dysplasia

Genetic Tests for Metatropic Dysplasia

Genetic tests related to Metatropic Dysplasia:

id Genetic test Affiliating Genes
1 Metatropic Dysplasia 24 TRPV4

Anatomical Context for Metatropic Dysplasia

MalaCards organs/tissues related to Metatropic Dysplasia:

39
Bone, Lung

Publications for Metatropic Dysplasia

Articles related to Metatropic Dysplasia:

(show all 27)
id Title Authors Year
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

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Ile331Phe VAR_062331 rs121912636
2 TRPV4 p.Pro799Leu VAR_062335 rs121912637
3 TRPV4 p.Thr89Ile VAR_064517 rs397514473
4 TRPV4 p.Lys197Arg VAR_064519 rs387906903
5 TRPV4 p.Leu199Phe VAR_064520 rs515726167
6 TRPV4 p.Thr295Ala VAR_064522 rs515726171
7 TRPV4 p.Ile331Thr VAR_064523 rs515726172
8 TRPV4 p.Val342Phe VAR_064524 rs515726152
9 TRPV4 p.Phe592Leu VAR_064526 rs515726158
10 TRPV4 p.Ile604Met VAR_064530 rs515726161
11 TRPV4 p.Phe617Leu VAR_064531 rs515726162
12 TRPV4 p.Leu618Pro VAR_064532 rs515726163
13 TRPV4 p.Arg775Lys VAR_064535
14 TRPV4 p.Glu797Lys VAR_064537 rs267607149
15 TRPV4 p.Pro799Ala VAR_064538 rs267607147
16 TRPV4 p.Pro799Arg VAR_064539 rs121912637
17 TRPV4 p.Pro799Ser VAR_064540 rs267607147

ClinVar genetic disease variations for Metatropic Dysplasia:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe) single nucleotide variant Pathogenic rs121912636 GRCh37 Chromosome 12, 110236580: 110236580
2 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
3 TRPV4 NM_021625.4(TRPV4): c.2395C> G (p.Pro799Ala) single nucleotide variant Pathogenic rs267607147 GRCh37 Chromosome 12, 110222184: 110222184
4 TRPV4 NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser) single nucleotide variant Pathogenic rs267607147 GRCh37 Chromosome 12, 110222184: 110222184
5 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
6 TRPV4 TRPV4, 3-BP DEL, 1411TTC deletion Pathogenic
7 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
8 TRPV4 NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs397514473 GRCh37 Chromosome 12, 110252336: 110252336
9 TRPV4 NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg) single nucleotide variant Pathogenic rs387906903 GRCh37 Chromosome 12, 110240918: 110240918
10 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh37 Chromosome 12, 110252370: 110252370
11 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh37 Chromosome 12, 110224632: 110224632
12 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh37 Chromosome 12, 110238450: 110238450

Expression for Metatropic Dysplasia

Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for Metatropic Dysplasia

GO Terms for Metatropic Dysplasia

Sources for Metatropic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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