MCID: SPN302
MIFTS: 32

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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 50 23 52 12
Spondylometaphyseal Dysplasia Kozlowski Type 46 68 25
Jequier Kozlowski Skeletal Dysplasia 46 66
Smd Kozlowski Type 46 68
Smdk 23 68
 
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 46
Skeletal Dysplasia Jequier-Kozlowski Type 46
Jequier-Kozlowski Syndrome 46
Smd, Kozlowski Type 23

Characteristics:

Orphanet epidemiological data:

52
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe)

HPO:

62
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 184252
Orphanet52 ORPHA93314
MESH via Orphanet38 C535797
UMLS via Orphanet67 C0265280
ICD10 via Orphanet29 Q77.8
MedGen35 C0265280
MeSH37 D010009

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Spondylometaphyseal Dysplasia, Kozlowski Type, also known as spondylometaphyseal dysplasia kozlowski type, is related to metatropic dysplasia and sulfite oxidase deficiency, 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:50 SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal... (184252) more...

Related Diseases for Spondylometaphyseal Dysplasia, Kozlowski Type

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



Diseases related to spondylometaphyseal dysplasia, kozlowski type

Symptoms for Spondylometaphyseal Dysplasia, Kozlowski Type

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Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Symptoms:

 52 (show all 22)
  • high forehead
  • short neck
  • pectus carinatum
  • narrow chest
  • platyspondyly
  • brachydactyly syndrome
  • gait disturbance
  • abnormal joint morphology
  • limitation of joint mobility
  • scoliosis
  • spondylometaphyseal dysplasia
  • delayed skeletal maturation
  • kyphosis
  • coxa vara
  • genu valgum
  • flared metaphysis
  • hypoplasia of the odontoid process
  • short stature
  • depressed nasal bridge
  • abnormality of epiphysis morphology
  • aplastic clavicles
  • short thorax

HPO human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

(show all 38)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 abnormality of the metaphyses hallmark (90%) HP:0000944
3 gait disturbance hallmark (90%) HP:0001288
4 short stature hallmark (90%) HP:0004322
5 short thorax hallmark (90%) HP:0010306
6 high forehead typical (50%) HP:0000348
7 short neck typical (50%) HP:0000470
8 pectus carinatum typical (50%) HP:0000768
9 brachydactyly syndrome typical (50%) HP:0001156
10 limitation of joint mobility typical (50%) HP:0001376
11 scoliosis typical (50%) HP:0002650
12 delayed skeletal maturation typical (50%) HP:0002750
13 kyphosis typical (50%) HP:0002808
14 genu valgum typical (50%) HP:0002857
15 depressed nasal bridge typical (50%) HP:0005280
16 narrow chest occasional (7.5%) HP:0000774
17 abnormality of the clavicle occasional (7.5%) HP:0000889
18 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
19 abnormality of epiphysis morphology occasional (7.5%) HP:0005930
20 abnormality of the face HP:0000271
21 short neck HP:0000470
22 pectus carinatum HP:0000768
23 platyspondyly HP:0000926
24 carpal bone hypoplasia HP:0001498
25 abnormality of the rib cage HP:0001547
26 abnormality of the foot HP:0001760
27 waddling gait HP:0002515
28 spondylometaphyseal dysplasia HP:0002657
29 delayed skeletal maturation HP:0002750
30 kyphoscoliosis HP:0002751
31 coxa vara HP:0002812
32 flared metaphysis HP:0003015
33 flat acetabular roof HP:0003180
34 hypoplasia of the odontoid process HP:0003311
35 disproportionate short-trunk short stature HP:0003521
36 irregular, rachitic-like metaphyses HP:0005042
37 severe carpal ossification delay HP:0006069
38 irregular acetabular roof HP:0008833

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 Type25 23 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

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

34
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:

68
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)single nucleotide variantPathogenicrs267607148GRCh37Chr 12, 110238444: 110238444
2TRPV4NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys)single nucleotide variantPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
3TRPV4NM_021625.4(TRPV4): c.1781G> A (p.Arg594His)single nucleotide variantPathogenicrs77975504GRCh37Chr 12, 110230500: 110230500
4TRPV4NM_021625.4(TRPV4): c.998A> G (p.Asp333Gly)single nucleotide variantPathogenicrs121912634GRCh37Chr 12, 110236573: 110236573
5TRPV4NM_021625.4(TRPV4): c.2146G> T (p.Ala716Ser)single nucleotide variantPathogenicrs121912635GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet