MCID: MTT002
MIFTS: 37

Metatropic Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Metatropic Dysplasia

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NIH Rare Diseases:42 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 dwarfism and kniest dysplasia, and has symptoms including high forehead, depressed nasal bridge and narrow rib cage/thorax. 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:21 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.

Description from OMIM:46 156530

Aliases & Classifications for Metatropic Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Metatropic Dysplasia, Aliases & Descriptions:

Name: Metatropic Dysplasia 42 20 21 46 48
Metatropic Dwarfism 42 21 48
 
Metatropic Dysplasia Type 1 21 62
Metatropic Dysplasia, Nonlethal Dominant 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
metatropic dysplasia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

OMIM46 156530
MESH via Orphanet35 C537356
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet63 C0265281

Related Diseases for Metatropic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.5
2kniest dysplasia10.4
3cervicitis10.3
4spinal stenosis10.2
5neuropathy10.2
6chondrodysplasia10.2
7spondylometaphyseal dysplasia kozlowski type10.2
8muscular atrophy10.1TRPV4
9brachyolmia type 310.1TRPV4
10parastremmatic dwarfism10.0TRPV4

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:

48 (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 48)
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 abnormality of the metaphyses hallmark (90%) HP:0000944
5 limitation of joint mobility hallmark (90%) HP:0001376
6 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
7 scoliosis hallmark (90%) HP:0002650
8 skeletal dysplasia hallmark (90%) HP:0002652
9 kyphosis hallmark (90%) HP:0002808
10 micromelia hallmark (90%) HP:0002983
11 abnormal cortical bone morphology hallmark (90%) HP:0003103
12 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
13 short stature hallmark (90%) HP:0004322
14 abnormality of bone mineral density hallmark (90%) HP:0004348
15 abnormality of the intervertebral disk hallmark (90%) HP:0005108
16 depressed nasal bridge hallmark (90%) HP:0005280
17 rough bone trabeculation hallmark (90%) HP:0100670
18 long thorax hallmark (90%) HP:0100818
19 cleft palate occasional (7.5%) HP:0000175
20 hydrocephalus occasional (7.5%) HP:0000238
21 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
22 cataract occasional (7.5%) HP:0000518
23 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
24 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
25 camptodactyly of finger occasional (7.5%) HP:0100490
26 flexion contracture rare (5%) HP:0001371
27 fetal akinesia sequence rare (5%) HP:0001989
28 peripheral axonal neuropathy rare (5%) HP:0003477
29 autosomal dominant inheritance HP:0000006
30 narrow chest HP:0000774
31 platyspondyly HP:0000926
32 scoliosis HP:0002650
33 epiphyseal dysplasia HP:0002656
34 relatively short spine HP:0002766
35 kyphosis HP:0002808
36 dumbbell-shaped metaphyses HP:0002810
37 hyperplasia of the femoral trochanters HP:0002822
38 caudal appendage HP:0002825
39 halberd-shaped pelvis HP:0002826
40 long coccyx HP:0002831
41 flared femoral metaphysis HP:0002834
42 respiratory failure HP:0002878
43 anisospondyly HP:0002879
44 absent primary metaphyseal spongiosa HP:0003332
45 abnormal enchondral ossification HP:0003336
46 severe short stature HP:0003510
47 abnormal metaphyseal vascular invasion HP:0003562
48 flared humeral metaphysis HP:0003911

Drugs & Therapeutics for Metatropic Dysplasia

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Drug clinical trials:

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Search 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 Dysplasia20 TRPV4

Anatomical Context for Metatropic Dysplasia

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MalaCards organs/tissues related to Metatropic Dysplasia:

32
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 21)
idTitleAuthorsYear
1
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. (24223250)
2013
2
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. (24121766)
2013
3
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. (22764341)
2012
4
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
5
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (20425821)
2010
6
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)
2009
7
Metatropic dysplasia in children. (18285743)
2008
8
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. (18348257)
2008
9
Metatropic dysplasia. (18245944)
2008
10
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. (17879966)
2007
11
Operative treatment of bilateral hip dislocations in a child with metatropic dysplasia. (17273034)
2007
12
Lethal metatropic dysplasia: a case report. (17365839)
2007
13
Cervical spinal stenosis in metatropic dysplasia. (16670547)
2006
14
Long-term follow-up in a patient with metatropic dysplasia. (15889420)
2005
15
Metatropic dysplasia lethal variants. (14566438)
2004
16
Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. (10507892)
1998
17
A distinct subtype of &quot;metatropic dysplasia variant&quot; characterised by advanced carpal skeletal age and subluxation of the radial heads. (9472061)
1998
18
Metatropic dysplasia: a case report. (7779195)
1995
19
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. (2915283)
1989
20
Metatropic dysplasia and its variants (analysis of 14 cases). (3202745)
1988
21
Heterogeneity of metatropic dysplasia. (6628444)
1983

Variations for Metatropic Dysplasia

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

64 (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:

6 (show all 12)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Metatropic Dysplasia

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Pathways for genes affiliated with Metatropic Dysplasia

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Compounds for genes affiliated with Metatropic Dysplasia

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GO Terms for genes affiliated with Metatropic Dysplasia

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Products for genes affiliated with Metatropic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Metatropic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet