MCID: SPN302
MIFTS: 34

Spondylometaphyseal Dysplasia, Kozlowski Type malady

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Kozlowski Type

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 metatropic dysplasia and spinal muscular atrophy, distal, congenital nonprogressive, and has symptoms including platyspondyly, abnormality of the metaphyses 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 39)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 abnormality of the metaphyses hallmark (90%) HP:0000944
3 gait disturbance hallmark (90%) HP:0001288
4 short stature hallmark (90%) HP:0004322
5 short thorax hallmark (90%) HP:0010306
6 high forehead typical (50%) HP:0000348
7 short neck typical (50%) HP:0000470
8 pectus carinatum typical (50%) HP:0000768
9 brachydactyly syndrome typical (50%) HP:0001156
10 limitation of joint mobility typical (50%) HP:0001376
11 scoliosis typical (50%) HP:0002650
12 delayed skeletal maturation typical (50%) HP:0002750
13 kyphosis typical (50%) HP:0002808
14 genu valgum typical (50%) HP:0002857
15 depressed nasal bridge typical (50%) HP:0005280
16 narrow chest occasional (7.5%) HP:0000774
17 abnormality of the clavicle occasional (7.5%) HP:0000889
18 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
19 abnormality of epiphysis morphology occasional (7.5%) HP:0005930
20 autosomal dominant inheritance HP:0000006
21 abnormality of the face HP:0000271
22 short neck HP:0000470
23 pectus carinatum HP:0000768
24 platyspondyly HP:0000926
25 carpal bone hypoplasia HP:0001498
26 abnormality of the rib cage HP:0001547
27 abnormality of the foot HP:0001760
28 waddling gait HP:0002515
29 spondylometaphyseal dysplasia HP:0002657
30 delayed skeletal maturation HP:0002750
31 kyphoscoliosis HP:0002751
32 coxa vara HP:0002812
33 flared metaphysis HP:0003015
34 flat acetabular roof HP:0003180
35 hypoplasia of the odontoid process HP:0003311
36 disproportionate short-trunk short stature HP:0003521
37 irregular, rachitic-like metaphyses HP:0005042
38 severe carpal ossification delay HP:0006069
39 irregular acetabular roof HP:0008833

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 24 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
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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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