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

Aliases & Descriptions for Spondylometaphyseal Dysplasia, Kozlowski Type:

Name: Spondylometaphyseal Dysplasia, Kozlowski Type 54 50 24 56 13
Spondylometaphyseal Dysplasia Kozlowski Type 66 29
Jequier Kozlowski Skeletal Dysplasia 50 69
Smd Kozlowski Type 50 66
Smdk 24 66
Dysmorphism Arthrogryposis Skeletal Maturation Advanced 50
Skeletal Dysplasia Jequier-Kozlowski Type 50
Jequier-Kozlowski Syndrome 50
Smd, Kozlowski Type 24

Characteristics:

Orphanet epidemiological data:

56
spondylometaphyseal dysplasia, kozlowski type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe);

HPO:

32
spondylometaphyseal dysplasia, kozlowski type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 184252
Orphanet 56 ORPHA93314
ICD10 via Orphanet 34 Q77.8
MESH via Orphanet 43 C535797
UMLS via Orphanet 70 C0265280
MedGen 40 C0265280
MeSH 42 D010009

Summaries for Spondylometaphyseal Dysplasia, Kozlowski Type

NIH Rare Diseases : 50 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 short neck, genu valgum and abnormality of epiphysis morphology. 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 : 54 SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal... (184252) more...

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 metatropic dysplasia 10.1

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Kozlowski Type

Symptoms by clinical synopsis from OMIM:

184252

Clinical features from OMIM:

184252

Human phenotypes related to Spondylometaphyseal Dysplasia, Kozlowski Type:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Frequent (79-30%) HP:0000470
2 genu valgum 56 32 Frequent (79-30%) HP:0002857
3 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
4 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
5 scoliosis 56 32 Frequent (79-30%) HP:0002650
6 kyphosis 56 32 Frequent (79-30%) HP:0002808
7 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
8 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
9 pectus carinatum 56 32 Frequent (79-30%) HP:0000768
10 short stature 56 32 Very frequent (99-80%) HP:0004322
11 narrow chest 56 32 Occasional (29-5%) HP:0000774
12 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
13 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
14 short thorax 56 32 Very frequent (99-80%) HP:0010306
15 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
16 high forehead 56 32 Frequent (79-30%) HP:0000348
17 coxa vara 56 32 Very frequent (99-80%) HP:0002812
18 spondylometaphyseal dysplasia 56 32 Very frequent (99-80%) HP:0002657
19 hypoplasia of the odontoid process 56 32 Occasional (29-5%) HP:0003311
20 aplastic clavicles 56 32 Occasional (29-5%) HP:0006660
21 flared metaphysis 56 32 Very frequent (99-80%) HP:0003015
22 waddling gait 32 HP:0002515
23 disproportionate short-trunk short stature 32 HP:0003521
24 carpal bone hypoplasia 32 HP:0001498
25 abnormality of the foot 32 HP:0001760
26 abnormality of the face 32 HP:0000271
27 kyphoscoliosis 32 HP:0002751
28 irregular acetabular roof 32 HP:0008833
29 flat acetabular roof 32 HP:0003180
30 abnormal joint morphology 56 Frequent (79-30%)
31 abnormality of the rib cage 32 HP:0001547
32 irregular, rachitic-like metaphyses 32 HP:0005042
33 severe carpal ossification delay 32 HP:0006069

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Kozlowski Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Kozlowski Type

Genetic Tests for Spondylometaphyseal Dysplasia, Kozlowski Type

Genetic tests related to Spondylometaphyseal Dysplasia, Kozlowski Type:

id Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Kozlowski Type 29 24 TRPV4

Anatomical Context for Spondylometaphyseal Dysplasia, Kozlowski Type

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

39
Bone

Publications for Spondylometaphyseal Dysplasia, Kozlowski Type

Articles related to Spondylometaphyseal Dysplasia, Kozlowski Type:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Asp333Gly VAR_062332 rs121912634
2 TRPV4 p.Arg594His VAR_062333 rs77975504
3 TRPV4 p.Ala716Ser VAR_062334 rs121912635
4 TRPV4 p.Glu278Lys VAR_064521 rs267607148
5 TRPV4 p.Leu596Pro VAR_064527 rs515726159
6 TRPV4 p.Gly600Trp VAR_064528 rs515726160
7 TRPV4 p.Met625Ile VAR_064533 rs515726164
8 TRPV4 p.Leu709Met VAR_064534 rs116571438
9 TRPV4 p.Cys777Tyr VAR_064536 rs515726165
10 TRPV4 p.Glu797Lys VAR_064537 rs267607149

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Kozlowski Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
2 TRPV4 NM_021625.4(TRPV4): c.998A> G (p.Asp333Gly) single nucleotide variant Pathogenic rs121912634 GRCh37 Chromosome 12, 110236573: 110236573
3 TRPV4 NM_021625.4(TRPV4): c.2146G> T (p.Ala716Ser) single nucleotide variant Pathogenic rs121912635 GRCh37 Chromosome 12, 110226267: 110226267
4 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Pathogenic rs267607148 GRCh37 Chromosome 12, 110238444: 110238444
5 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190

Expression for Spondylometaphyseal Dysplasia, Kozlowski Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Kozlowski Type.

Pathways for Spondylometaphyseal Dysplasia, Kozlowski Type

GO Terms for Spondylometaphyseal Dysplasia, Kozlowski Type

Sources for Spondylometaphyseal Dysplasia, Kozlowski Type

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