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:
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 49 11 22 51
Spondylometaphyseal Dysplasia Kozlowski Type 45 67 24
Jequier Kozlowski Skeletal Dysplasia 45 65
Smd Kozlowski Type 45 67
Smdk 22 67
 
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 45
Skeletal Dysplasia Jequier-Kozlowski Type 45
Jequier-Kozlowski Syndrome 45
Smd, Kozlowski Type 22

Characteristics:

Orphanet epidemiological data:

51
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe)

HPO:

61
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184252
Orphanet51 93314
MESH via Orphanet37 C535797
UMLS via Orphanet66 C0265280
ICD10 via Orphanet28 Q77.8
MedGen34 C0265280
MeSH36 D010009
UMLS65 C2931534

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

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UniProtKB/Swiss-Prot:67 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 dermatitis and contact dermatitis, and has symptoms including short thorax, short stature 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:49 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:

 51 (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

HPO human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

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

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 Type22 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

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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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Articles related to Spondylometaphyseal Dysplasia, Kozlowski Type:

idTitleAuthorsYear
1
Oromandibular dystonia following dental treatment: case reports and discussion. (19418679)
2009
2
Microalbuminuria and cardiovascular risk factors in type 2 diabetes mellitus. (2137750)
1990

Variations for Spondylometaphyseal Dysplasia, Kozlowski Type

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UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia, Kozlowski Type:

67
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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet