MTD
MCID: MTT002
MIFTS: 49

Metatropic Dysplasia (MTD)

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

Aliases & Classifications for Metatropic Dysplasia

MalaCards integrated aliases for Metatropic Dysplasia:

Name: Metatropic Dysplasia 57 12 20 43 58 72 36 13 15
Metatropic Dwarfism 57 12 73 20 43 58 72 6 44
Metatropic Dysplasia Type 1 43 70
Metatropic Dysplasia, Nonlethal Dominant 20
Mtd 72

Characteristics:

Orphanet epidemiological data:

58
metatropic dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
metatropic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Metatropic Dysplasia

MedlinePlus Genetics : 43 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.Affected infants are born with a narrow chest and unusually short arms and legs with dumbbell-shaped long bones. Beginning in early childhood, people with this condition develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). The curvature worsens with time and tends to be resistant to treatment. Because of the severe kyphoscoliosis, affected individuals may ultimately have a very short torso in relation to the length of their arms and legs.Some people with metatropic dysplasia are born with an elongated tailbone known as a coccygeal tail; it is made of a tough but flexible tissue called cartilage. The coccygeal tail usually shrinks over time. Other skeletal problems associated with metatropic dysplasia include flattened bones of the spine (platyspondyly); excessive movement of spinal bones in the neck that can damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint deformities called contractures that restrict the movement of joints in the shoulders, elbows, hips, and knees. Beginning early in life, affected individuals can also develop a degenerative form of arthritis that causes joint pain and further restricts movement.The signs and symptoms of metatropic dysplasia can vary from relatively mild to life-threatening. In the most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several distinct forms of metatropic dysplasia based on the severity of the condition's features. The forms included a mild type, a classic type, and a lethal type. However, all of these forms are now considered to be part of a single condition with a spectrum of overlapping signs and symptoms.

MalaCards based summary : Metatropic Dysplasia, also known as metatropic dwarfism, is related to kniest dysplasia and hereditary motor and sensory neuropathy, type iic. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include spinal cord, bone and trachea, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has material basis in heterozygous mutation in TRPV4 on chromosome 12q24.11.

GARD : 20 Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine ( scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

OMIM® : 57 Metatropic dysplasia (MD) is 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 (Genevieve et al., 2008). (156530) (Updated 05-Apr-2021)

KEGG : 36 Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Dwarfism occurs when an organism is extremely small. In humans, it is sometimes defined as an adult... more...

Related Diseases for Metatropic Dysplasia

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 kniest dysplasia 31.8 COL2A1 COL11A2
2 hereditary motor and sensory neuropathy, type iic 30.4 YIPF3 TRPV4 PACSIN3
3 skeletal dysplasias 30.1 TRPV4 SOX9 COL2A1 COL11A2
4 spinal stenosis 30.0 COL2A1 COL11A2
5 spondyloepimetaphyseal dysplasia 29.9 TRPV4 SOX9 COL2A1
6 parastremmatic dwarfism 29.9 TRPV4 PACSIN3 MCOLN1
7 brachyolmia 29.8 TRPV6 TRPV4 TRPV3 PACSIN3 COL2A1
8 spondyloepiphyseal dysplasia, maroteaux type 29.8 TRPV6 TRPV4 PACSIN3 MCOLN1
9 fibrochondrogenesis 29.7 SOX9 COL2A1 COL11A2
10 odontochondrodysplasia 29.7 TRPV4 SOX9 COL2A1 COL11A2
11 spondylometaphyseal dysplasia, kozlowski type 29.6 YIPF3 TRPV6 TRPV4 PACSIN3 MCOLN1
12 scapuloperoneal spinal muscular atrophy 29.4 TRPV6 TRPV5 TRPV4 TRPV3 PACSIN3
13 brachyolmia type 3 11.1
14 atelosteogenesis, type i 11.1
15 boomerang dysplasia 11.1
16 mycobacterium tuberculosis 1 10.3
17 scoliosis 10.3
18 dwarfism 10.3
19 type ii collagen disorders 10.3 TRPV4 COL2A1
20 familial avascular necrosis of the femoral head 10.2 TRPV4 COL2A1
21 avascular necrosis 10.2 TRPV4 COL2A1
22 autosomal dominant trpv4 disorders 10.2
23 achondroplasia 10.2
24 facial dermatosis 10.2 TRPV4 TRPV3
25 pre-eclampsia 10.2
26 neutropenia 10.2
27 photoparoxysmal response 1 10.1 TRPV4 TRPV3
28 kohler's disease 10.1 COL2A1 COL11A2
29 spondyloepimetaphyseal dysplasia, strudwick type 10.1
30 odontoid hypoplasia 10.1
31 brachyolmia type 2 10.1
32 sensory peripheral neuropathy 10.1
33 neuropathy 10.1
34 hypervitaminosis d 10.1 TRPV6 TRPV5
35 vitreous syneresis 10.1 COL2A1 COL11A2
36 synovial chondromatosis 10.1 SOX9 COL2A1
37 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COL2A1 COL11A2
38 retinal perforation 10.1 COL2A1 COL11A2
39 tracheomalacia 10.1 SOX9 COL2A1
40 tracheal disease 10.1 SOX9 COL2A1
41 spondyloepiphyseal dysplasia congenita 10.1 COL2A1 COL11A2
42 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL2A1 COL11A2
43 marshall syndrome 10.0 COL2A1 COL11A2
44 retinal detachment 10.0
45 branchiootic syndrome 1 10.0
46 cyanosis, transient neonatal 10.0
47 cartilage disease 10.0 SOX9 COL2A1
48 achondrogenesis, type ii 10.0 COL2A1 COL11A2
49 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.0 TRPV6 TRPV4 TRPV3
50 pleurisy 10.0

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



Diseases related to Metatropic Dysplasia

Symptoms & Phenotypes for Metatropic Dysplasia

Human phenotypes related to Metatropic Dysplasia:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
3 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
6 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
7 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
8 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
9 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
10 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
11 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
12 hypoplastic cervical vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0008434
13 long thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0100818
14 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
15 halberd-shaped pelvis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002826
16 abnormal enchondral ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003336
17 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
18 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
19 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
20 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
23 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
24 aplasia/hypoplasia of the lungs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006703
25 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
26 flexion contracture 31 occasional (7.5%) HP:0001371
27 fetal akinesia sequence 31 occasional (7.5%) HP:0001989
28 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
29 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
30 abnormality of the metaphysis 58 Very frequent (99-80%)
31 epiphyseal dysplasia 31 HP:0002656
32 brachydactyly 31 HP:0001156
33 platyspondyly 31 HP:0000926
34 short finger 31 HP:0009381
35 respiratory failure 31 HP:0002878
36 rough bone trabeculation 58 Very frequent (99-80%)
37 short ribs 31 HP:0000773
38 anisospondyly 31 HP:0002879
39 enlarged joints 31 HP:0003037
40 caudal appendage 31 HP:0002825
41 relatively short spine 31 HP:0002766
42 dumbbell-shaped metaphyses 31 HP:0002810
43 hyperplasia of the femoral trochanters 31 HP:0002822
44 long coccyx 31 HP:0002831
45 flared femoral metaphysis 31 HP:0002834
46 absent primary metaphyseal spongiosa 31 HP:0003332
47 abnormal metaphyseal vascular invasion 31 HP:0003562
48 flared humeral metaphysis 31 HP:0003911

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
epiphyseal dysplasia
dumbbell-shaped metaphyses
absent primary metaphyseal spongiosa
abnormal metaphyseal vascular invasion
flared femurs and humeri
more
Skeletal Spine:
platyspondyly
anisospondyly
relatively short spine
long coccyx
severe scoliosis
more
Skeletal Pelvis:
halberd-shaped pelvis
hyperplastic femoral trochanters
supra-acetabular notches

Growth Height:
dwarfism, short limbed, recognizable at birth

Chest Ribs Sternum Clavicles And Scapulae:
short ribs with cupped ends

Neurologic Peripheral Nervous System:
fetal akinesia (in some patients)
peripheral axonal neuropathy (in some patients)

Skeletal Hands:
brachydactyly
delayed carpal age

Respiratory:
respiratory failure

Chest External Features:
narrow thorax

Respiratory Airways:
exuberant cartilage formation in the trachea and bronchi

Skeletal:
arthrogryposis multiplex (in some patients)
joint contractures (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)

Clinical features from OMIM®:

156530 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metatropic Dysplasia

Search Clinical Trials , NIH Clinical Center for Metatropic Dysplasia

Cochrane evidence based reviews: metatropic dwarfism

Genetic Tests for Metatropic Dysplasia

Anatomical Context for Metatropic Dysplasia

MalaCards organs/tissues related to Metatropic Dysplasia:

40
Spinal Cord, Bone, Trachea

Publications for Metatropic Dysplasia

Articles related to Metatropic Dysplasia:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 57 6 61
21964829 2011
2
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 57 6 61
20577006 2010
3
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 57 6 61
20425821 2010
4
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 57 6 61
19232556 2009
5
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. 61 6
27530454 2016
6
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 61 6
20503319 2010
7
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. 61 57
18348257 2008
8
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. 57 61
17879966 2007
9
Long-term follow-up in a patient with metatropic dysplasia. 57 61
15889420 2005
10
Metatropic dysplasia lethal variants. 61 57
14566438 2004
11
Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. 61 57
3805078 1987
12
Heterogeneity of metatropic dysplasia. 57 61
6628444 1983
13
Hereditary chondrodystrophy in the rabbit. Genetics and pathology of a new mutant, a model for metatropic dwarfism. 57 61
1184951 1975
14
Metatropic dwarfism. 61 57
5433366 1970
15
Metatropic dwarfism. 61 57
5769297 1969
16
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. 6
14755468 2004
17
Fatal neonatal dwarfism. 57
5063132 1972
18
[Metatrophic dwarfism]. 57
4963592 1966
19
[Morquio's disease (polyepiphysial deforming osteochondrodystrophy) in two brothers]. 57
13405333 1956
20
Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia. 61
33748438 2021
21
Thrombocytosis in an infant with a TRPV4 mutation: a case report. 61
32319342 2021
22
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
23
Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia. 61
31954514 2020
24
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report. 61
31808622 2020
25
Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia. 61
31463371 2019
26
The Management of Kyphosis in Metatropic Dysplasia. 61
31053321 2019
27
Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report. 61
30285969 2019
28
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones. 61
30984522 2018
29
Novel TRPV4 variant causes a severe form of metatropic dysplasia. 61
30214761 2018
30
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. 61
28414187 2017
31
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. 61
28321993 2017
32
Metatropic Dysplasia with a Novel Mutation in TRPV4. 61
27567651 2016
33
Metatropic dysplasia is associated with increased fracture risk. 61
26823048 2016
34
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 61
26249260 2015
35
[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported]. 61
25622169 2015
36
Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. 61
24644033 2014
37
Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1. 61
24559391 2014
38
Occipitocervical fusion in skeletal dysplasia: a new surgical technique. 61
24825152 2014
39
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
40
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. 61
24121766 2014
41
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. 61
24223250 2013
42
[Anesthetic management of a patient with metatropic dysplasia]. 61
23479930 2013
43
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 61
23143559 2012
44
TRPV4-associated skeletal dysplasias. 61
22791502 2012
45
Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report. 61
22764341 2012
46
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
47
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). 61
21863289 2012
48
[Metatropic dysplasia as the cause of atlantoaxial instability, spinal stenosis and myelopathy: case report and literature review]. 61
22538111 2012
49
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. 61
21658220 2011
50
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. 61
21573172 2011

Variations for Metatropic Dysplasia

ClinVar genetic disease variations for Metatropic Dysplasia:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.4(TRPV4):c.2395C>G (p.Pro799Ala) SNV Pathogenic 18430 rs267607147 GRCh37: 12:110222184-110222184
GRCh38: 12:109784379-109784379
2 TRPV4 TRPV4, 3-BP DEL, 1411TTC Deletion Pathogenic 18433 GRCh37:
GRCh38:
3 TRPV4 NM_021625.4(TRPV4):c.1207T>A (p.Ser403Thr) SNV Pathogenic 370071 rs1565868973 GRCh37: 12:110234455-110234455
GRCh38: 12:109796650-109796650
4 TRPV4 NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe) SNV Pathogenic 4997 rs121912636 GRCh37: 12:110236580-110236580
GRCh38: 12:109798775-109798775
5 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) SNV Pathogenic 4998 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
6 TRPV4 NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser) SNV Pathogenic 18431 rs267607147 GRCh37: 12:110222184-110222184
GRCh38: 12:109784379-109784379
7 TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg) SNV Pathogenic 18432 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
8 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 GRCh37: 12:110222190-110222190
GRCh38: 12:109784385-109784385
9 TRPV4 NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile) SNV Pathogenic 30470 rs397514473 GRCh37: 12:110252336-110252336
GRCh38: 12:109814531-109814531
10 TRPV4 NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg) SNV Pathogenic 30471 rs387906903 GRCh37: 12:110240918-110240918
GRCh38: 12:109803113-109803113
11 TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) SNV Pathogenic 30474 rs397514474 GRCh37: 12:110252370-110252370
GRCh38: 12:109814565-109814565
12 TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile) SNV Pathogenic 30475 rs387906906 GRCh37: 12:110224632-110224632
GRCh38: 12:109786827-109786827
13 TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic 30476 rs387906907 GRCh37: 12:110238450-110238450
GRCh38: 12:109800645-109800645
14 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
15 TRPV4 NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) SNV Likely pathogenic 126473 rs515726163 GRCh37: 12:110230206-110230206
GRCh38: 12:109792401-109792401
16 TRPV4 NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp) SNV Likely pathogenic 834081 GRCh37: 12:110222188-110222188
GRCh38: 12:109784383-109784383
17 TRPV4 NM_021625.4(TRPV4):c.*51G>A SNV Uncertain significance 307120 rs886048939 GRCh37: 12:110221375-110221375
GRCh38: 12:109783570-109783570
18 TRPV4 NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) SNV Uncertain significance 307131 rs886048940 GRCh37: 12:110232273-110232273
GRCh38: 12:109794468-109794468
19 TRPV4 NM_021625.4(TRPV4):c.*405G>A SNV Uncertain significance 307114 rs886048937 GRCh37: 12:110221021-110221021
GRCh38: 12:109783216-109783216
20 TRPV4 NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) SNV Uncertain significance 307128 rs775011025 GRCh37: 12:110231389-110231389
GRCh38: 12:109793584-109793584
21 TRPV4 NM_021625.4(TRPV4):c.171T>C (p.Pro57=) SNV Uncertain significance 307144 rs886048941 GRCh37: 12:110252431-110252431
GRCh38: 12:109814626-109814626
22 TRPV4 NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) SNV Uncertain significance 307123 rs375189134 GRCh37: 12:110224615-110224615
GRCh38: 12:109786810-109786810
23 TRPV4 NM_021625.4(TRPV4):c.*212G>A SNV Uncertain significance 307118 rs886048938 GRCh37: 12:110221214-110221214
GRCh38: 12:109783409-109783409
24 TRPV4 NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) SNV Uncertain significance 881124 GRCh37: 12:110238479-110238479
GRCh38: 12:109800674-109800674
25 TRPV4 NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) SNV Uncertain significance 881272 GRCh37: 12:110246158-110246158
GRCh38: 12:109808353-109808353
26 TRPV4 NM_021625.5(TRPV4):c.*421G>A SNV Uncertain significance 881334 GRCh37: 12:110221005-110221005
GRCh38: 12:109783200-109783200
27 TRPV4 NM_021625.5(TRPV4):c.*303G>A SNV Uncertain significance 881386 GRCh37: 12:110221123-110221123
GRCh38: 12:109783318-109783318
28 TRPV4 , MIR4497 NC_000012.12:g.109833410C>A SNV Uncertain significance 881447 GRCh37: 12:110271215-110271215
GRCh38: 12:109833410-109833410
29 TRPV4 NM_021625.5(TRPV4):c.*411A>G SNV Uncertain significance 881335 GRCh37: 12:110221015-110221015
GRCh38: 12:109783210-109783210
30 TRPV4 NM_021625.5(TRPV4):c.195A>G (p.Pro65=) SNV Uncertain significance 881336 GRCh37: 12:110252407-110252407
GRCh38: 12:109814602-109814602
31 TRPV4 NM_021625.5(TRPV4):c.*227A>G SNV Uncertain significance 881830 GRCh37: 12:110221199-110221199
GRCh38: 12:109783394-109783394
32 TRPV4 NM_021625.5(TRPV4):c.*83C>G SNV Uncertain significance 881446 GRCh37: 12:110221343-110221343
GRCh38: 12:109783538-109783538
33 TRPV4 NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) SNV Uncertain significance 880695 GRCh37: 12:110224593-110224593
GRCh38: 12:109786788-109786788
34 TRPV4 NM_021625.4(TRPV4):c.*99C>T SNV Uncertain significance 307119 rs552478250 GRCh37: 12:110221327-110221327
GRCh38: 12:109783522-109783522
35 MIR4497 , TRPV4 NM_021625.4(TRPV4):c.-74G>A SNV Uncertain significance 307145 rs886048942 GRCh37: 12:110271197-110271197
GRCh38: 12:109833392-109833392
36 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 GRCh37: 12:110232249-110232249
GRCh38: 12:109794444-109794444
37 MIR4497 , TRPV4 NM_021625.5(TRPV4):c.-59C>T SNV Uncertain significance 882983 GRCh37: 12:110271182-110271182
GRCh38: 12:109833377-109833377
38 TRPV4 NM_021625.5(TRPV4):c.*2G>A SNV Uncertain significance 883056 GRCh37: 12:110221424-110221424
GRCh38: 12:109783619-109783619
39 TRPV4 NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) SNV Uncertain significance 882031 GRCh37: 12:110222146-110222146
GRCh38: 12:109784341-109784341
40 TRPV4 NM_021625.5(TRPV4):c.*145C>T SNV Uncertain significance 881445 GRCh37: 12:110221281-110221281
GRCh38: 12:109783476-109783476
41 TRPV4 NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) SNV Uncertain significance 567260 rs1423138633 GRCh37: 12:110226251-110226251
GRCh38: 12:109788446-109788446
42 TRPV4 NM_021625.5(TRPV4):c.812G>A (p.Arg271His) SNV Uncertain significance 882712 GRCh37: 12:110238464-110238464
GRCh38: 12:109800659-109800659
43 TRPV4 NM_021625.5(TRPV4):c.*500C>T SNV Uncertain significance 881730 GRCh37: 12:110220926-110220926
GRCh38: 12:109783121-109783121
44 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 GRCh37: 12:110226437-110226437
GRCh38: 12:109788632-109788632
45 TRPV4 NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) SNV Uncertain significance 307127 rs769225216 GRCh37: 12:110230485-110230485
GRCh38: 12:109792680-109792680
46 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 GRCh37: 12:110222154-110222154
GRCh38: 12:109784349-109784349
47 TRPV4 NM_021625.4(TRPV4):c.651G>A (p.Ala217=) SNV Uncertain significance 517843 rs371280831 GRCh37: 12:110240857-110240857
GRCh38: 12:109803052-109803052
48 TRPV4 NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) SNV Uncertain significance 881173 GRCh37: 12:110238534-110238534
GRCh38: 12:109800729-109800729
49 TRPV4 NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) SNV Uncertain significance 307139 rs769445973 GRCh37: 12:110240886-110240886
GRCh38: 12:109803081-109803081
50 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 GRCh37: 12:110252418-110252418
GRCh38: 12:109814613-109814613

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

72 (show all 17)
# 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

Expression for Metatropic Dysplasia

Search GEO for disease gene expression data for Metatropic Dysplasia.

Pathways for Metatropic Dysplasia

GO Terms for Metatropic Dysplasia

Cellular components related to Metatropic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.76 YIPF4 YIPF3 TRPV6 TRPV5 TRPV4 TRPV3
2 integral component of plasma membrane GO:0005887 9.35 TRPV6 TRPV5 TRPV4 TRPV3 MCOLN1
3 calcium channel complex GO:0034704 8.62 TRPV6 TRPV5

Biological processes related to Metatropic Dysplasia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 TRPV6 TRPV5 TRPV4 TRPV3 MCOLN1
2 transmembrane transport GO:0055085 9.87 TRPV6 TRPV5 TRPV4 TRPV3
3 extracellular matrix organization GO:0030198 9.77 SOX9 COL2A1 COL11A2
4 skeletal system development GO:0001501 9.71 SOX9 COL2A1 COL11A2
5 cartilage development GO:0051216 9.65 SOX9 COL2A1 COL11A2
6 ion transmembrane transport GO:0034220 9.65 TRPV6 TRPV5 TRPV4 TRPV3 MCOLN1
7 protein homotetramerization GO:0051289 9.61 TRPV5 MCOLN1
8 collagen fibril organization GO:0030199 9.6 COL2A1 COL11A2
9 skeletal system morphogenesis GO:0048705 9.58 COL2A1 COL11A2
10 cellular response to BMP stimulus GO:0071773 9.58 SOX9 COL2A1
11 calcium ion homeostasis GO:0055074 9.56 TRPV6 TRPV5
12 cartilage condensation GO:0001502 9.55 SOX9 COL2A1
13 calcium ion transport GO:0006816 9.55 TRPV6 TRPV5 TRPV4 TRPV3 MCOLN1
14 chondrocyte differentiation GO:0002062 9.54 SOX9 COL2A1 COL11A2
15 limb bud formation GO:0060174 9.52 SOX9 COL2A1
16 notochord development GO:0030903 9.51 SOX9 COL2A1
17 tissue homeostasis GO:0001894 9.5 SOX9 COL2A1 COL11A2
18 otic vesicle development GO:0071599 9.46 SOX9 COL2A1
19 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 TRPV4 COL2A1
20 anterior head development GO:0097065 9.4 SOX9 COL2A1
21 calcium ion transmembrane transport GO:0070588 9.35 TRPV6 TRPV5 TRPV4 TRPV3 MCOLN1
22 calcium ion import across plasma membrane GO:0098703 8.92 TRPV6 TRPV5 TRPV4 TRPV3

Molecular functions related to Metatropic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.43 TRPV6 TRPV5 TRPV4
2 cation channel activity GO:0005261 9.33 TRPV4 TRPV3 MCOLN1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL2A1 COL11A2
4 ion channel activity GO:0005216 9.26 TRPV6 TRPV5 TRPV4 TRPV3
5 calcium channel activity GO:0005262 8.92 TRPV6 TRPV5 TRPV4 TRPV3

Sources for Metatropic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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