MCID: SPN147
MIFTS: 34

Spondylometaphyseal Dysplasia Kozlowski Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Spondylometaphyseal Dysplasia Kozlowski Type

About this section


Fully expand this MalaCard
MalaCards based summary: 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 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). 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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Spondylometaphyseal Dysplasia Kozlowski Type, Aliases & Descriptions:

Name: Spondylometaphyseal Dysplasia Kozlowski Type 42 20 22
Spondylometaphyseal Dysplasia, Kozlowski Type 46 48
Jequier Kozlowski Skeletal Dysplasia 42 62
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 42
 
Skeletal Dysplasia Jequier-Kozlowski Type 42
Jequier-Kozlowski Syndrome 42
Smd Kozlowski Type 42
Strudwick Syndrome 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 184252
MESH via Orphanet35 C535797
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet63 C0265280

Related Diseases for Spondylometaphyseal Dysplasia Kozlowski Type

About this section

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 310.1TRPV4
3muscular atrophy10.1TRPV4
4parastremmatic dwarfism10.1TRPV4

Symptoms for Spondylometaphyseal Dysplasia Kozlowski Type

About this section

Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Symptoms:

48 (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 abnormality of the hip bone hallmark (90%) HP:0003272
5 short stature hallmark (90%) HP:0004322
6 short thorax hallmark (90%) HP:0010306
7 high forehead typical (50%) HP:0000348
8 short neck typical (50%) HP:0000470
9 pectus carinatum typical (50%) HP:0000768
10 brachydactyly syndrome typical (50%) HP:0001156
11 limitation of joint mobility typical (50%) HP:0001376
12 scoliosis typical (50%) HP:0002650
13 delayed skeletal maturation typical (50%) HP:0002750
14 kyphosis typical (50%) HP:0002808
15 genu valgum typical (50%) HP:0002857
16 depressed nasal bridge typical (50%) HP:0005280
17 narrow chest occasional (7.5%) HP:0000774
18 abnormality of the clavicles occasional (7.5%) HP:0000889
19 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
20 abnormality of the epiphyses occasional (7.5%) HP:0005930
21 autosomal dominant inheritance HP:0000006
22 abnormality of the face HP:0000271
23 short neck HP:0000470
24 pectus carinatum HP:0000768
25 platyspondyly HP:0000926
26 carpal bone hypoplasia HP:0001498
27 abnormality of the rib cage HP:0001547
28 abnormality of the foot HP:0001760
29 waddling gait HP:0002515
30 delayed skeletal maturation HP:0002750
31 kyphoscoliosis HP:0002751
32 coxa vara HP:0002812
33 flared metaphyses 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

About this section

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

About this section

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

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

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

About this section

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:

6
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

About this section
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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet