MCID: SPN147
MIFTS: 34

Spondylometaphyseal Dysplasia Kozlowski Type malady

Bone diseases, Fetal diseases categories

Summaries for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Spondylometaphyseal Dysplasia Kozlowski Type, also known as spondylometaphyseal dysplasia, kozlowski type, is related to spondyloepimetaphyseal dysplasia, strudwick type and axial spondylometaphyseal dysplasia, and has symptoms including short stature/dwarfism/nanism, metaphyseal anomaly and narrow rib cage/thorax. 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:46 184252

Aliases & Classifications for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spondylometaphyseal dysplasia kozlowski type 42 20 22
spondylometaphyseal dysplasia, kozlowski type 46 48
jequier kozlowski skeletal dysplasia 42 60
dysmorphism arthrogryposis skeletal maturation advanced 42
skeletal dysplasia jequier-kozlowski type 42
jequier-kozlowski syndrome 42
smd kozlowski type 42
strudwick syndrome 60


External Ids:

OMIM46 184252
MESH via Orphanet35 C535797
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet61 C0265280

Related Diseases for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
2axial spondylometaphyseal dysplasia10.1
3spondylometaphyseal dysplasia corner fracture type10.1
4muscular atrophy10.0TRPV4

Clinical Features for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

184252

Clinical synopsis from OMIM:

184252

Symptoms:

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

Drugs & Therapeutics for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Spondylometaphyseal Dysplasia Kozlowski Type

Drug clinical trials:

Search ClinicalTrials for Spondylometaphyseal Dysplasia Kozlowski Type

Search NIH Clinical Center for Spondylometaphyseal Dysplasia Kozlowski Type

Search CenterWatch for Spondylometaphyseal Dysplasia Kozlowski Type

Genetic Tests for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia Kozlowski Type:

32
Bone

Animal Models for Spondylometaphyseal Dysplasia Kozlowski Type or affiliated genes

About this section

Publications for Spondylometaphyseal Dysplasia Kozlowski Type

About this section

Genetic Variations for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Spondylometaphyseal Dysplasia Kozlowski Type:

62
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

Expression for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

About this section

GO Terms for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

About this section

Products for genes affiliated with Spondylometaphyseal Dysplasia Kozlowski Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondylometaphyseal Dysplasia Kozlowski Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet