SMDK
MCID: SPN302
MIFTS: 43

Spondylometaphyseal Dysplasia, Kozlowski Type (SMDK)

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Kozlowski Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 57 20 58 29 13 6 44 39
Spondylometaphyseal Dysplasia Kozlowski Type 12 72 15
Jequier Kozlowski Skeletal Dysplasia 12 20 70
Smd Kozlowski Type 12 20 72
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 12 20
Skeletal Dysplasia Jequier-Kozlowski Type 12 20
Jequier-Kozlowski Syndrome 12 20
Smdk 57 72
Smd, Kozlowski Type 57

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia, kozlowski type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe);

OMIM®:

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

Miscellaneous:
normal at birth
waddling gait noted at age 15-20 months


HPO:

31
spondylometaphyseal dysplasia, kozlowski type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111554
OMIM® 57 184252
OMIM Phenotypic Series 57 PS184255
SNOMED-CT 67 254077000
MESH via Orphanet 45 C535797
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C0265280
Orphanet 58 ORPHA93314
MedGen 41 C0265280
UMLS 70 C0265280 C2931534

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

GARD : 20 Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. "Spondylo"refers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone. Spondylometaphyseal dysplasia, Kozlowski type is caused by mutations in the TRPV4 gene. Inheritance is autosomal dominant. Treatment is surgical or the use of braces to align the spine.

MalaCards based summary : Spondylometaphyseal Dysplasia, Kozlowski Type, also known as spondylometaphyseal dysplasia kozlowski type, is related to parastremmatic dwarfism and hereditary motor and sensory neuropathy, type iic. An important gene associated with Spondylometaphyseal Dysplasia, Kozlowski Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Ion channel transport and TRP channels. Affiliated tissues include bone, and related phenotypes are gait disturbance and short stature

Disease Ontology : 12 A metaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has material basis in heterozygous mutation in TRPV4 on chromosome 12q24.11.

OMIM® : 57 SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles (Krakow et al., 2009). (184252) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spondylometaphyseal dysplasia Kozlowski type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles.

Related Diseases for Spondylometaphyseal Dysplasia, Kozlowski Type

Diseases related to Spondylometaphyseal Dysplasia, Kozlowski Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 parastremmatic dwarfism 30.2 TRPV4 PACSIN3 MCOLN1
2 hereditary motor and sensory neuropathy, type iic 30.2 YIPF3 TRPV4 PACSIN3
3 brachyolmia 30.0 TRPV6 TRPV4 PACSIN3 MIR4497
4 charcot-marie-tooth disease 29.5 TRPV4 SCN9A MIR4497 MCOLN1
5 metatropic dysplasia 29.5 YIPF3 TRPV6 TRPV4 PACSIN3 MCOLN1
6 spondyloepiphyseal dysplasia, maroteaux type 28.7 TRPV6 TRPV4 SCN9A PACSIN3 MCOLN1 KCNJ18
7 brachyolmia type 3 11.3
8 spondyloepimetaphyseal dysplasia, strudwick type 10.5
9 autosomal dominant trpv4 disorders 10.4
10 skeletal dysplasias 10.4
11 spondylometaphyseal dysplasia, sedaghatian type 10.2
12 brachyolmia type 2 10.2
13 scoliosis 10.2
14 tooth disease 10.2
15 dwarfism 10.2
16 pectus carinatum 10.2
17 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.1 TRPV6 TRPV4
18 motor peripheral neuropathy 10.0 TRPV4 PACSIN3
19 mucolipidosis 10.0 MCOLN1 GNPTG
20 mucolipidoses 10.0 MCOLN1 GNPTG
21 mucolipidosis iii alpha/beta 9.9 MCOLN1 GNPTG
22 mucolipidosis iv 9.9 TRPV6 TRPV4 MCOLN1
23 paroxysmal extreme pain disorder 9.8 TRPV4 SCN9A
24 paine syndrome 9.8 TRPV4 SCN9A
25 hyperkalemic periodic paralysis 9.7 SCN9A KCNJ18
26 diabetic neuropathy 9.7 TRPV4 SCN9A
27 mucopolysaccharidosis-plus syndrome 9.7 MCOLN1 GNPTG
28 paramyotonia congenita of von eulenburg 9.7 SCN9A KCNJ18
29 familial episodic pain syndrome 9.6 TRPV4 SCN9A MCOLN1
30 scapuloperoneal spinal muscular atrophy 9.3 TRPV6 TRPV4 SCN9A PACSIN3 MIR4497

Graphical network of the top 20 diseases related to Spondylometaphyseal Dysplasia, Kozlowski Type:



Diseases related to Spondylometaphyseal Dysplasia, Kozlowski Type

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Kozlowski Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
4 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
5 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
6 flared metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003015
7 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
12 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
13 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
14 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
17 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
18 enlarged joints 58 31 occasional (7.5%) Frequent (79-30%) HP:0003037
19 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
20 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
21 hypoplasia of the odontoid process 58 31 occasional (7.5%) Occasional (29-5%) HP:0003311
22 aplastic clavicle 31 occasional (7.5%) HP:0006660
23 disproportionate short-trunk short stature 31 HP:0003521
24 waddling gait 31 HP:0002515
25 kyphoscoliosis 31 HP:0002751
26 abnormality of the face 31 HP:0000271
27 aplastic clavicles 58 Occasional (29-5%)
28 flat acetabular roof 31 HP:0003180
29 irregular, rachitic-like metaphyses 31 HP:0005042
30 carpal bone hypoplasia 31 HP:0001498
31 irregular acetabular roof 31 HP:0008833
32 abnormal rib cage morphology 31 HP:0001547
33 abnormal foot morphology 31 HP:0001760
34 severe carpal ossification delay 31 HP:0006069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphoscoliosis
platyspondyly
vertebral bodies broader than interpedicular distance
odontoid hypoplasia
more
Skeletal:
delayed skeletal maturation

Skeletal Pelvis:
coxa vara
square, short iliac wings
flaring of iliac wings
flat, irregular acetabula
supra-acetabular notches (in some patients)

Skeletal Hands:
severe carpal ossification delay
hypoplastic carpal bones
short, stubby hands

Growth Height:
short-trunked dwarfism
adult height 130-150 cm

Skeletal Feet:
short, stubby feet

Head And Neck Neck:
short neck

Chest External Features:
pectus carinatum

Skeletal Limbs:
metaphyseal irregularity
irregular, rachitic-like metaphyses
metaphyseal flaring
mildly curved limbs (varus)
prominent joints (in some patients)

Head And Neck Face:
normal facies

Skeletal Skull:
sphenoid hypoplasia

Clinical features from OMIM®:

184252 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Kozlowski Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Kozlowski Type

Cochrane evidence based reviews: spondylometaphyseal dysplasia, kozlowski type

Genetic Tests for Spondylometaphyseal Dysplasia, Kozlowski Type

Genetic tests related to Spondylometaphyseal Dysplasia, Kozlowski Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Kozlowski Type 29 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Kozlowski Type:

40
Bone

Publications for Spondylometaphyseal Dysplasia, Kozlowski Type

Articles related to Spondylometaphyseal Dysplasia, Kozlowski Type:

(show all 22)
# Title Authors PMID Year
1
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 6 57 61
20577006 2010
2
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 61 6 57
19232556 2009
3
TRPV4-associated skeletal dysplasias. 61 20
22791502 2012
4
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 6
20503319 2010
5
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 6
20425821 2010
6
Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the disease. 57
8441154 1993
7
Spondylometaphyseal dysplasia. 57
401596 1977
8
Spondylometaphyseal dysplasia. 57
4199241 1973
9
[3 cases of spondylometaphyseal dysplasia in one family]. 57
4661491 1972
10
Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. 20
24291408 2015
11
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
12
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 61
31191204 2019
13
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. 61
28687525 2017
14
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
15
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 61
23143559 2012
16
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
17
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 61
21964829 2011
18
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. 61
21658220 2011
19
[Spondylometaphyseal dysplasia, Kozlowski type]. 61
11528969 2001
20
Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. 61
8030664 1994
21
Spondylometaphyseal dysplasia (Kozlowski type): case report. 61
8233993 1993
22
Spondylometaphyseal dysplasia: further heterogeneity. 61
3375844 1988

Variations for Spondylometaphyseal Dysplasia, Kozlowski Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Kozlowski Type:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) SNV Pathogenic 4994 rs77975504 GRCh37: 12:110230500-110230500
GRCh38: 12:109792695-109792695
2 TRPV4 NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) SNV Pathogenic 4995 rs121912634 GRCh37: 12:110236573-110236573
GRCh38: 12:109798768-109798768
3 TRPV4 NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser) SNV Pathogenic 4996 rs121912635 GRCh37: 12:110226267-110226267
GRCh38: 12:109788462-109788462
4 TRPV4 NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) SNV Pathogenic 18434 rs267607148 GRCh37: 12:110238444-110238444
GRCh38: 12:109800639-109800639
5 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 GRCh37: 12:110222190-110222190
GRCh38: 12:109784385-109784385
6 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
7 TRPV4 NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) SNV Uncertain significance 307139 rs769445973 GRCh37: 12:110240886-110240886
GRCh38: 12:109803081-109803081
8 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 GRCh37: 12:110252418-110252418
GRCh38: 12:109814613-109814613
9 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 GRCh37: 12:110240939-110240939
GRCh38: 12:109803134-109803134
10 TRPV4 NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn) SNV Uncertain significance 246571 rs368963822 GRCh37: 12:110221482-110221482
GRCh38: 12:109783677-109783677
11 TRPV4 NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) SNV Uncertain significance 245716 rs763302555 GRCh37: 12:110252565-110252565
GRCh38: 12:109814760-109814760
12 TRPV4 NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=) SNV Uncertain significance 386671 rs750086412 GRCh37: 12:110236533-110236533
GRCh38: 12:109798728-109798728
13 TRPV4 NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr) SNV Uncertain significance 307142 rs201642486 GRCh37: 12:110246233-110246233
GRCh38: 12:109808428-109808428
14 TRPV4 NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) SNV Uncertain significance 307127 rs769225216 GRCh37: 12:110230485-110230485
GRCh38: 12:109792680-109792680
15 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 GRCh37: 12:110222154-110222154
GRCh38: 12:109784349-109784349
16 TRPV4 NM_021625.4(TRPV4):c.651G>A (p.Ala217=) SNV Uncertain significance 517843 rs371280831 GRCh37: 12:110240857-110240857
GRCh38: 12:109803052-109803052
17 TRPV4 NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) SNV Uncertain significance 307123 rs375189134 GRCh37: 12:110224615-110224615
GRCh38: 12:109786810-109786810
18 MIR4497 , TRPV4 NM_021625.4(TRPV4):c.-74G>A SNV Uncertain significance 307145 rs886048942 GRCh37: 12:110271197-110271197
GRCh38: 12:109833392-109833392
19 TRPV4 NM_021625.4(TRPV4):c.*212G>A SNV Uncertain significance 307118 rs886048938 GRCh37: 12:110221214-110221214
GRCh38: 12:109783409-109783409
20 TRPV4 NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) SNV Uncertain significance 307131 rs886048940 GRCh37: 12:110232273-110232273
GRCh38: 12:109794468-109794468
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.*99C>T SNV Uncertain significance 307119 rs552478250 GRCh37: 12:110221327-110221327
GRCh38: 12:109783522-109783522
23 TRPV4 NM_021625.4(TRPV4):c.*51G>A SNV Uncertain significance 307120 rs886048939 GRCh37: 12:110221375-110221375
GRCh38: 12:109783570-109783570
24 TRPV4 NM_021625.4(TRPV4):c.*405G>A SNV Uncertain significance 307114 rs886048937 GRCh37: 12:110221021-110221021
GRCh38: 12:109783216-109783216
25 TRPV4 NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) SNV Uncertain significance 307128 rs775011025 GRCh37: 12:110231389-110231389
GRCh38: 12:109793584-109793584
26 TRPV4 NM_021625.4(TRPV4):c.2479C>G (p.Pro827Ala) SNV Uncertain significance 433144 rs1555204455 GRCh37: 12:110221563-110221563
GRCh38: 12:109783758-109783758
27 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 GRCh37: 12:110232249-110232249
GRCh38: 12:109794444-109794444
28 TRPV4 NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) SNV Uncertain significance 881124 GRCh37: 12:110238479-110238479
GRCh38: 12:109800674-109800674
29 TRPV4 NM_021625.5(TRPV4):c.*421G>A SNV Uncertain significance 881334 GRCh37: 12:110221005-110221005
GRCh38: 12:109783200-109783200
30 TRPV4 NM_021625.5(TRPV4):c.*411A>G SNV Uncertain significance 881335 GRCh37: 12:110221015-110221015
GRCh38: 12:109783210-109783210
31 TRPV4 NM_021625.5(TRPV4):c.*303G>A SNV Uncertain significance 881386 GRCh37: 12:110221123-110221123
GRCh38: 12:109783318-109783318
32 MIR4497 , TRPV4 NM_021625.5(TRPV4):c.-59C>T SNV Uncertain significance 882983 GRCh37: 12:110271182-110271182
GRCh38: 12:109833377-109833377
33 TRPV4 NM_021625.5(TRPV4):c.*2G>A SNV Uncertain significance 883056 GRCh37: 12:110221424-110221424
GRCh38: 12:109783619-109783619
34 TRPV4 NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) SNV Uncertain significance 882031 GRCh37: 12:110222146-110222146
GRCh38: 12:109784341-109784341
35 TRPV4 NM_021625.5(TRPV4):c.812G>A (p.Arg271His) SNV Uncertain significance 882712 GRCh37: 12:110238464-110238464
GRCh38: 12:109800659-109800659
36 TRPV4 NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) SNV Uncertain significance 881272 GRCh37: 12:110246158-110246158
GRCh38: 12:109808353-109808353
37 TRPV4 NM_021625.5(TRPV4):c.*145C>T SNV Uncertain significance 881445 GRCh37: 12:110221281-110221281
GRCh38: 12:109783476-109783476
38 TRPV4 , MIR4497 NC_000012.12:g.109833410C>A SNV Uncertain significance 881447 GRCh37: 12:110271215-110271215
GRCh38: 12:109833410-109833410
39 TRPV4 NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) SNV Uncertain significance 567260 rs1423138633 GRCh37: 12:110226251-110226251
GRCh38: 12:109788446-109788446
40 TRPV4 NM_021625.5(TRPV4):c.*500C>T SNV Uncertain significance 881730 GRCh37: 12:110220926-110220926
GRCh38: 12:109783121-109783121
41 TRPV4 NM_021625.5(TRPV4):c.195A>G (p.Pro65=) SNV Uncertain significance 881336 GRCh37: 12:110252407-110252407
GRCh38: 12:109814602-109814602
42 TRPV4 NM_021625.5(TRPV4):c.*227A>G SNV Uncertain significance 881830 GRCh37: 12:110221199-110221199
GRCh38: 12:109783394-109783394
43 TRPV4 NM_021625.5(TRPV4):c.*83C>G SNV Uncertain significance 881446 GRCh37: 12:110221343-110221343
GRCh38: 12:109783538-109783538
44 TRPV4 NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) SNV Uncertain significance 880695 GRCh37: 12:110224593-110224593
GRCh38: 12:109786788-109786788
45 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 GRCh37: 12:110226437-110226437
GRCh38: 12:109788632-109788632
46 TRPV4 NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) SNV Uncertain significance 881731 GRCh37: 12:110246235-110246235
GRCh38: 12:109808430-109808430
47 TRPV4 NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) SNV Likely benign 469047 rs142902080 GRCh37: 12:110236613-110236613
GRCh38: 12:109798808-109798808
48 TRPV4 NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) SNV Likely benign 521669 rs763889344 GRCh37: 12:110230581-110230581
GRCh38: 12:109792776-109792776
49 TRPV4 NM_021625.4(TRPV4):c.1584C>T (p.Asn528=) SNV Likely benign 578089 rs142749412 GRCh37: 12:110231735-110231735
GRCh38: 12:109793930-109793930
50 TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) SNV Likely benign 307143 rs200199102 GRCh37: 12:110252397-110252397
GRCh38: 12:109814592-109814592

UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia, Kozlowski Type:

72
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Asp333Gly VAR_062332 rs121912634
2 TRPV4 p.Arg594His VAR_062333 rs77975504
3 TRPV4 p.Ala716Ser VAR_062334 rs121912635
4 TRPV4 p.Glu278Lys VAR_064521 rs267607148
5 TRPV4 p.Leu596Pro VAR_064527 rs515726159
6 TRPV4 p.Gly600Trp VAR_064528 rs515726160
7 TRPV4 p.Met625Ile VAR_064533 rs515726164
8 TRPV4 p.Leu709Met VAR_064534 rs116571438
9 TRPV4 p.Cys777Tyr VAR_064536 rs515726165
10 TRPV4 p.Glu797Lys VAR_064537 rs267607149

Expression for Spondylometaphyseal Dysplasia, Kozlowski Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Kozlowski Type.

Pathways for Spondylometaphyseal Dysplasia, Kozlowski Type

Pathways related to Spondylometaphyseal Dysplasia, Kozlowski Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 TRPV6 TRPV4 MCOLN1
2 10.2 TRPV6 TRPV4 MCOLN1

GO Terms for Spondylometaphyseal Dysplasia, Kozlowski Type

Cellular components related to Spondylometaphyseal Dysplasia, Kozlowski Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.17 YIPF3 TRPV6 TRPV4 SCN9A PACSIN3 MCOLN1

Biological processes related to Spondylometaphyseal Dysplasia, Kozlowski Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.5 TRPV6 TRPV4 MCOLN1
2 cation transmembrane transport GO:0098655 9.37 SCN9A MCOLN1
3 calcium ion transmembrane transport GO:0070588 9.33 TRPV6 TRPV4 MCOLN1
4 calcium ion import across plasma membrane GO:0098703 9.26 TRPV6 TRPV4
5 ion transmembrane transport GO:0034220 9.26 TRPV6 TRPV4 SCN9A MCOLN1
6 ion transport GO:0006811 9.02 TRPV6 TRPV4 SCN9A MCOLN1 KCNJ18

Molecular functions related to Spondylometaphyseal Dysplasia, Kozlowski Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.33 TRPV4 PACSIN3 MCOLN1
2 calcium channel activity GO:0005262 9.26 TRPV6 TRPV4
3 ion channel activity GO:0005216 9.13 TRPV6 TRPV4 SCN9A
4 cation channel activity GO:0005261 8.8 TRPV4 SCN9A MCOLN1

Sources for Spondylometaphyseal Dysplasia, Kozlowski Type

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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