SMDK
MCID: SPN302
MIFTS: 27

Spondylometaphyseal Dysplasia, Kozlowski Type (SMDK) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, Kozlowski Type

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 52 48 24 54 12
Spondylometaphyseal Dysplasia Kozlowski Type 70 27
Jequier Kozlowski Skeletal Dysplasia 48 68
Smd Kozlowski Type 48 70
Smdk 24 70
 
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 48
Skeletal Dysplasia Jequier-Kozlowski Type 48
Jequier-Kozlowski Syndrome 48
Smd, Kozlowski Type 24

Characteristics:

Orphanet epidemiological data:

54
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe)

HPO:

64
spondylometaphyseal dysplasia, kozlowski type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 184252
Orphanet54 ORPHA93314
ICD10 via Orphanet31 Q77.8
MESH via Orphanet40 C535797
UMLS via Orphanet69 C0265280
MedGen37 C0265280
MeSH39 D010009

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

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NIH Rare Diseases:48 Spondylometaphyseal dysplasia, kozlowski type is a bone disease characterized by short stature involving the trunk. "spondylo"refers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnormal growth. it usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. early osteoarthritis of the joints is also common. other signs and symptoms include small hands and fingers, spine deformities, and x-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone.  spondylometaphyseal dysplasia, kozlowski type is caused by mutations in the trpv4 gene. inheritance is autosomal dominant. treatment is surgical or the use of braces to align the spine. last updated: 12/6/2016

MalaCards based summary: Spondylometaphyseal Dysplasia, Kozlowski Type, also known as spondylometaphyseal dysplasia kozlowski type, is related to metatropic dysplasia, and has symptoms including Array, Array and Array. 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:52 SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal... (184252) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Spondylometaphyseal Dysplasia, Kozlowski Type

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Diseases related to Spondylometaphyseal Dysplasia, Kozlowski Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1metatropic dysplasia10.1

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Kozlowski Type

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Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

 54 64 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high forehead64 54 Frequent (79-30%) HP:0000348
2 short neck64 54 Frequent (79-30%) HP:0000470
3 pectus carinatum64 54 Frequent (79-30%) HP:0000768
4 narrow chest64 54 Occasional (29-5%) HP:0000774
5 platyspondyly64 54 Very frequent (99-80%) HP:0000926
6 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
7 gait disturbance64 54 Very frequent (99-80%) HP:0001288
8 abnormal joint morphology54 Frequent (79-30%)
9 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
10 scoliosis64 54 Frequent (79-30%) HP:0002650
11 spondylometaphyseal dysplasia64 54 Very frequent (99-80%) HP:0002657
12 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
13 kyphosis64 54 Frequent (79-30%) HP:0002808
14 coxa vara64 54 Very frequent (99-80%) HP:0002812
15 genu valgum64 54 Frequent (79-30%) HP:0002857
16 flared metaphysis64 54 Very frequent (99-80%) HP:0003015
17 hypoplasia of the odontoid process64 54 Occasional (29-5%) HP:0003311
18 short stature64 54 Very frequent (99-80%) HP:0004322
19 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
20 abnormality of epiphysis morphology64 54 Occasional (29-5%) HP:0005930
21 aplastic clavicles64 54 Occasional (29-5%) HP:0006660
22 short thorax64 54 Very frequent (99-80%) HP:0010306
23 abnormality of the face64 HP:0000271
24 carpal bone hypoplasia64 HP:0001498
25 abnormality of the rib cage64 HP:0001547
26 abnormality of the foot64 HP:0001760
27 waddling gait64 HP:0002515
28 kyphoscoliosis64 HP:0002751
29 flat acetabular roof64 HP:0003180
30 disproportionate short-trunk short stature64 HP:0003521
31 irregular, rachitic-like metaphyses64 HP:0005042
32 severe carpal ossification delay64 HP:0006069
33 irregular acetabular roof64 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 Type27 24 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Kozlowski Type:

36
Bone

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:

70
id Symbol AA change Variation ID SNP ID
1TRPV4p.Asp333GlyVAR_062332rs121912634
2TRPV4p.Arg594HisVAR_062333rs77975504
3TRPV4p.Ala716SerVAR_062334rs121912635
4TRPV4p.Glu278LysVAR_064521rs267607148
5TRPV4p.Leu596ProVAR_064527rs515726159
6TRPV4p.Gly600TrpVAR_064528rs515726160
7TRPV4p.Met625IleVAR_064533rs515726164
8TRPV4p.Leu709MetVAR_064534rs116571438
9TRPV4p.Cys777TyrVAR_064536rs515726165
10TRPV4p.Glu797LysVAR_064537rs267607149

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)SNVPathogenicrs267607148GRCh37Chr 12, 110238444: 110238444
2TRPV4NM_ 021625.4(TRPV4): c.2389G> A (p.Glu797Lys)SNVPathogenicrs267607149GRCh37Chr 12, 110222190: 110222190
3TRPV4NM_ 021625.4(TRPV4): c.1781G> A (p.Arg594His)SNVPathogenicrs77975504GRCh37Chr 12, 110230500: 110230500
4TRPV4NM_ 021625.4(TRPV4): c.998A> G (p.Asp333Gly)SNVPathogenicrs121912634GRCh37Chr 12, 110236573: 110236573
5TRPV4NM_ 021625.4(TRPV4): c.2146G> T (p.Ala716Ser)SNVPathogenicrs121912635GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet