MCID: SPN147
MIFTS: 27

Spondylometaphyseal Dysplasia Kozlowski Type malady

Bone, Fetal categories

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 spondyloepimetaphyseal dysplasia, strudwick type and metatropic dysplasia, and has symptoms including short rib cage/thorax, platyspondyly and abnormal gait. An important gene associated with Spondylometaphyseal Dysplasia Kozlowski Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 184252

Aliases & Classifications for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


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 61
dysmorphism arthrogryposis skeletal maturation advanced 43
skeletal dysplasia jequier-kozlowski type 43
jequier-kozlowski syndrome 43
strudwick syndrome 61
smd kozlowski type 43


External Ids:

OMIM47 184252
MESH via Orphanet36 C535797
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet62 C0265280

Related Diseases for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
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
1spondyloepimetaphyseal dysplasia, strudwick type10.4
2metatropic dysplasia10.4
3axial spondylometaphyseal dysplasia10.1
4spondylometaphyseal dysplasia corner fracture type10.1
5muscular atrophy10.0TRPV4

Graphical network of diseases related to Spondylometaphyseal Dysplasia Kozlowski Type:



Diseases related to spondylometaphyseal dysplasia kozlowski type

Clinical Features for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

184252

Clinical synopsis from OMIM:

184252

Symptoms:

49 (show all 22)
  • short rib cage/thorax
  • 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
  • pectus carinatum
  • kyphosis
  • scoliosis
  • 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

Drugs & Therapeutics for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Spondylometaphyseal Dysplasia Kozlowski Type

Genetic Tests for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
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

Animal Models for Spondylometaphyseal Dysplasia Kozlowski Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
51PubMed
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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

Genetic Variations for Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spondylometaphyseal Dysplasia Kozlowski Type:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

Sources:
1BioGPS, 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

Compounds for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

GO Terms for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

Products for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondylometaphyseal Dysplasia Kozlowski Type

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet