MCID: SPN302
MIFTS: 28

Spondylometaphyseal Dysplasia, Kozlowski Type malady

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Kozlowski Type

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 51 47 24 53 12
Spondylometaphyseal Dysplasia Kozlowski Type 69 26
Jequier Kozlowski Skeletal Dysplasia 47 67
Smd Kozlowski Type 47 69
Smdk 24 69
 
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 47
Skeletal Dysplasia Jequier-Kozlowski Type 47
Jequier-Kozlowski Syndrome 47
Smd, Kozlowski Type 24

Characteristics:

Orphanet epidemiological data:

53
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe)

HPO:

63
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 184252
Orphanet53 ORPHA93314
ICD10 via Orphanet30 Q77.8
MESH via Orphanet39 C535797
UMLS via Orphanet68 C0265280
MedGen36 C0265280
MeSH38 D010009

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

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NIH Rare Diseases:47 Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. Spondylorefers 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. Last updated: 12/6/2016

MalaCards based summary: Spondylometaphyseal Dysplasia, Kozlowski Type, also known as spondylometaphyseal dysplasia kozlowski type, is related to metatropic dysplasia, and has symptoms including platyspondyly, abnormality of the metaphyses and gait disturbance. An important gene associated with Spondylometaphyseal Dysplasia, Kozlowski Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

OMIM:51 SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal... (184252) more...

UniProtKB/Swiss-Prot:69 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

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

idRelated DiseaseScoreTop Affiliating Genes
1metatropic dysplasia10.1

Symptoms for Spondylometaphyseal Dysplasia, Kozlowski Type

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Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

 63 53 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly63 53 hallmark (90%) Very frequent (99-80%) HP:0000926
2 abnormality of the metaphyses63 hallmark (90%) HP:0000944
3 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
4 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
5 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
6 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
7 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
8 pectus carinatum63 53 typical (50%) Frequent (79-30%) HP:0000768
9 brachydactyly syndrome63 53 typical (50%) Frequent (79-30%) HP:0001156
10 limitation of joint mobility63 53 typical (50%) Frequent (79-30%) HP:0001376
11 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
12 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
13 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
14 genu valgum63 53 typical (50%) Frequent (79-30%) HP:0002857
15 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
16 narrow chest63 53 occasional (7.5%) Occasional (29-5%) HP:0000774
17 abnormality of the clavicle63 occasional (7.5%) HP:0000889
18 hypoplasia of the odontoid process63 53 occasional (7.5%) Occasional (29-5%) HP:0003311
19 abnormality of epiphysis morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0005930
20 abnormality of the face63 HP:0000271
21 carpal bone hypoplasia63 HP:0001498
22 abnormality of the rib cage63 HP:0001547
23 abnormality of the foot63 HP:0001760
24 waddling gait63 HP:0002515
25 spondylometaphyseal dysplasia63 53 Very frequent (99-80%) HP:0002657
26 kyphoscoliosis63 HP:0002751
27 coxa vara63 53 Very frequent (99-80%) HP:0002812
28 flared metaphysis63 53 Very frequent (99-80%) HP:0003015
29 flat acetabular roof63 HP:0003180
30 disproportionate short-trunk short stature63 HP:0003521
31 irregular, rachitic-like metaphyses63 HP:0005042
32 severe carpal ossification delay63 HP:0006069
33 irregular acetabular roof63 HP:0008833
34 abnormal joint morphology53 Frequent (79-30%)
35 aplastic clavicles53 Occasional (29-5%)

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Kozlowski Type

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Interventional clinical trials:

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

Genetic Tests for Spondylometaphyseal Dysplasia, Kozlowski Type

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Genetic tests related to Spondylometaphyseal Dysplasia, Kozlowski Type:

id Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Kozlowski Type26 24 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

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

35
Bone

Animal Models for Spondylometaphyseal Dysplasia, Kozlowski Type or affiliated genes

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Publications for Spondylometaphyseal Dysplasia, Kozlowski Type

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Articles related to Spondylometaphyseal Dysplasia, Kozlowski Type:

idTitleAuthorsYear
1
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)
2009
2
Spondylometaphyseal dysplasia (Kozlowski type): case report. (8233993)
1993

Variations for Spondylometaphyseal Dysplasia, Kozlowski Type

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

69
id Symbol AA change Variation ID SNP ID
1TRPV4p.Asp333GlyVAR_062332rs121912634
2TRPV4p.Arg594HisVAR_062333rs77975504
3TRPV4p.Ala716SerVAR_062334rs121912635
4TRPV4p.Glu278LysVAR_064521rs267607148
5TRPV4p.Leu596ProVAR_064527rs515726159
6TRPV4p.Gly600TrpVAR_064528rs515726160
7TRPV4p.Met625IleVAR_064533rs515726164
8TRPV4p.Leu709MetVAR_064534rs116571438
9TRPV4p.Cys777TyrVAR_064536rs515726165
10TRPV4p.Glu797LysVAR_064537rs267607149

Clinvar genetic disease variations for Spondylometaphyseal Dysplasia, Kozlowski Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys)SNVPathogenicrs267607148GRCh37Chr 12, 110238444: 110238444
2TRPV4NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys)SNVPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
3TRPV4NM_021625.4(TRPV4): c.1781G> A (p.Arg594His)SNVPathogenicrs77975504GRCh37Chr 12, 110230500: 110230500
4TRPV4NM_021625.4(TRPV4): c.998A> G (p.Asp333Gly)SNVPathogenicrs121912634GRCh37Chr 12, 110236573: 110236573
5TRPV4NM_021625.4(TRPV4): c.2146G> T (p.Ala716Ser)SNVPathogenicrs121912635GRCh37Chr 12, 110226267: 110226267

Expression for genes affiliated with Spondylometaphyseal Dysplasia, Kozlowski Type

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

Pathways for genes affiliated with Spondylometaphyseal Dysplasia, Kozlowski Type

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GO Terms for genes affiliated with Spondylometaphyseal Dysplasia, Kozlowski Type

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Sources for Spondylometaphyseal Dysplasia, Kozlowski Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet