MCID: SPN147
MIFTS: 34

Spondylometaphyseal Dysplasia Kozlowski Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Spondylometaphyseal Dysplasia Kozlowski Type

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47OMIM, 33MalaCards
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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:47 184252

Aliases & Classifications for Spondylometaphyseal Dysplasia Kozlowski Type

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62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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):

49
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondylometaphyseal dysplasia kozlowski type 43 20 22
spondylometaphyseal dysplasia, kozlowski type 47 49
jequier kozlowski skeletal dysplasia 43 62
dysmorphism arthrogryposis skeletal maturation advanced 43
skeletal dysplasia jequier-kozlowski type 43
jequier-kozlowski syndrome 43
strudwick syndrome 62
smd kozlowski type 43


External Ids:

OMIM47 184252
MESH via Orphanet36 C535797
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet63 C0265280

Related Diseases for Spondylometaphyseal Dysplasia Kozlowski Type

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spondylometaphyseal Dysplasia Kozlowski Type

Search NIH Clinical Center for Spondylometaphyseal Dysplasia Kozlowski Type

Genetic Tests for Spondylometaphyseal Dysplasia Kozlowski Type

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20GeneTests, 22GTR
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Genetic tests related to Spondylometaphyseal Dysplasia Kozlowski Type:

id Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Kozlowski Type20 22 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia Kozlowski Type

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33MalaCards
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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia Kozlowski Type:

33
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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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia Kozlowski Type:

64
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet