MCID: SPN147
MIFTS: 34

Spondylometaphyseal Dysplasia Kozlowski Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Spondylometaphyseal Dysplasia Kozlowski Type

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48OMIM, 34MalaCards
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MalaCards: Spondylometaphyseal Dysplasia Kozlowski Type, also known as spondylometaphyseal dysplasia, kozlowski type, is related to metatropic dysplasia and brachyolmia type 3, and has symptoms including short hand/brachydactyly, genu valgum and delayed bone age. An important gene associated with Spondylometaphyseal Dysplasia Kozlowski Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone.

Description from OMIM:48 184252

Aliases & Classifications for Spondylometaphyseal Dysplasia Kozlowski Type

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63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondylometaphyseal dysplasia kozlowski type 44 21 23
spondylometaphyseal dysplasia, kozlowski type 48 50
jequier kozlowski skeletal dysplasia 44 63
dysmorphism arthrogryposis skeletal maturation advanced 44
skeletal dysplasia jequier-kozlowski type 44
jequier-kozlowski syndrome 44
strudwick syndrome 63
smd kozlowski type 44


External Ids:

OMIM48 184252
MESH via Orphanet37 C535797
ICD10 via Orphanet27 Q77.8
UMLS via Orphanet64 C0265280

Related Diseases for Spondylometaphyseal Dysplasia Kozlowski Type

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18GeneCards, 19GeneDecks
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Diseases related to Spondylometaphyseal Dysplasia Kozlowski Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1metatropic dysplasia30.6TRPV4
2brachyolmia type 310.0TRPV4
3muscular atrophy10.0TRPV4
4parastremmatic dwarfism10.0TRPV4

Symptoms for Spondylometaphyseal Dysplasia Kozlowski Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Symptoms:

50 (show all 22)
  • short hand/brachydactyly
  • genu valgum
  • delayed bone age
  • restricted joint mobility/joint stiffness/ankylosis
  • joint/articular deformation
  • clavicle absent/abnormal
  • narrow rib cage/thorax
  • odontoid hypoplasia
  • epiphyseal anomaly
  • scoliosis
  • kyphosis
  • pectus carinatum
  • platyspondyly
  • abnormal gait
  • metaphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • high forehead
  • depressed nasal bridge
  • short neck
  • short rib cage/thorax

Drugs & Therapeutics for Spondylometaphyseal Dysplasia Kozlowski Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Spondylometaphyseal Dysplasia Kozlowski Type

Search CenterWatch for Spondylometaphyseal Dysplasia Kozlowski Type

Genetic Tests for Spondylometaphyseal Dysplasia Kozlowski Type

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21GeneTests, 23GTR
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Genetic tests related to Spondylometaphyseal Dysplasia Kozlowski Type:

id Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Kozlowski Type21 23 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia Kozlowski Type

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34MalaCards
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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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia Kozlowski Type:

65
id Symbol AA change Variation ID SNP ID
1TRPV4p.Asp333GlyVAR_062332
2TRPV4p.Arg594HisVAR_062333
3TRPV4p.Ala716SerVAR_062334
4TRPV4p.Glu278LysVAR_064521
5TRPV4p.Leu596ProVAR_064527
6TRPV4p.Gly600TrpVAR_064528
7TRPV4p.Met625IleVAR_064533
8TRPV4p.Leu709MetVAR_064534
9TRPV4p.Cys777TyrVAR_064536
10TRPV4p.Glu797LysVAR_064537

Clinvar genetic disease variations for Spondylometaphyseal Dysplasia Kozlowski Type:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

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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Compounds 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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Products for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondylometaphyseal Dysplasia Kozlowski Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet