SMD
MCID: SPN028
MIFTS: 40

Spondyloepimetaphyseal Dysplasia, Strudwick Type (SMD) malady

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

Summaries for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Looking for an antibody for researching spondyloepimetaphyseal dysplasia, strudwick type?

COL2A1 antibody
Genetics Home Reference:22 Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to axial spondylometaphyseal dysplasia and spondylometaphyseal dysplasia with cone-rod dystrophy, and has symptoms including platyspondyly, abnormality of the metaphyses and gait disturbance. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include bone and lung.

Disease Ontology:9 A spondyloepimetaphyseal dysplasia that has material basis in mutations in the col2a1 gene which results in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

OMIM:46 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Sources:
9Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
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Spondyloepimetaphyseal Dysplasia, Strudwick Type, Aliases & Descriptions:

Name: Spondyloepimetaphyseal Dysplasia, Strudwick Type 9 64 22
Spondylometaphyseal Dysplasia 64 22 44 61
Dappled Metaphysis Syndrome 64 42 22 61
Strudwick Syndrome 64 42 22 61
Spondyloepimetaphyseal Dysplasia Strudwick Type 42 21 23
Sed Strudwick 64 22 61
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 64 22
Semd, Strudwick Type 64 22
 
Smed, Strudwick Type 64 22
Smed Strudwick Type 42 46
Smed, Type I 64 22
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 48
Spondylometaphyseal Dysplasia, Strudwick Type 64
Smed Type 1 42
Smd 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


External Ids:

Disease Ontology9 DOID:0080028
OMIM46 184250
ICD10 via Orphanet27 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:



Diseases related to spondyloepimetaphyseal dysplasia, strudwick type

Symptoms for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Symptoms:

 48 (show all 25)
  • short rib cage/thorax
  • lordosis
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • flat face
  • hypertelorism
  • retinal detachment
  • myopia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • kyphosis
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • genu valgum
  • abnormal gait
  • osteoarthritis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis
  • odontoid hypoplasia
  • genu varum
  • talipes-varus/metatarsal varus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

HPO human phenotypes related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

(show all 53)
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 limb undergrowth hallmark (90%) HP:0009826
7 platyspondyly hallmark (90%) HP:0000926
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 skeletal dysplasia hallmark (90%) HP:0002652
10 micromelia hallmark (90%) HP:0002983
11 hyperlordosis hallmark (90%) HP:0003307
12 short stature hallmark (90%) HP:0004322
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 short thorax hallmark (90%) HP:0010306
15 cleft palate typical (50%) HP:0000175
16 malar flattening typical (50%) HP:0000272
17 hypertelorism typical (50%) HP:0000316
18 retinal detachment typical (50%) HP:0000541
19 myopia typical (50%) HP:0000545
20 gait disturbance typical (50%) HP:0001288
21 osteoarthritis typical (50%) HP:0002758
22 kyphosis typical (50%) HP:0002808
23 abnormality of the femur typical (50%) HP:0002823
24 genu valgum typical (50%) HP:0002857
25 abnormality of the hip bone typical (50%) HP:0003272
26 talipes occasional (7.5%) HP:0001883
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 scoliosis occasional (7.5%) HP:0002650
29 genu varum occasional (7.5%) HP:0002970
30 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
31 autosomal dominant inheritance HP:0000006
32 inguinal hernia HP:0000023
33 cleft palate HP:0000175
34 myopia HP:0000545
35 pectus carinatum HP:0000768
36 anterior rib cupping HP:0000907
37 platyspondyly HP:0000926
38 brachydactyly syndrome HP:0001156
39 protuberant abdomen HP:0001538
40 pes planus HP:0001763
41 scoliosis HP:0002650
42 coxa vara HP:0002812
43 genu valgum HP:0002857
44 metaphyseal irregularity HP:0003025
45 hypoplastic pubic bones HP:0003173
46 hyperlordosis HP:0003307
47 hypoplasia of the odontoid process HP:0003311
48 c1-c2 subluxation HP:0003320
49 narrow greater sacrosciatic notches HP:0003375
50 severe short stature HP:0003510
51 club-shaped proximal femur HP:0006406
52 delayed pubic bone ossification HP:0008788
53 metaphyseal dappling HP:0011860

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Drug clinical trials:

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Genetic tests related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Strudwick Type21 COL2A1
2 Spondyloepimetaphyseal Dysplasia Strudwick Type23

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

32
Bone, Lung

Animal Models for Spondyloepimetaphyseal Dysplasia, Strudwick Type or affiliated genes

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Publications for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Articles related to Spondyloepimetaphyseal Dysplasia, Strudwick Type:

idTitleAuthorsYear
1
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. (25383842)
2014
2
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
3
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995

Variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

63
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly492ValVAR_001745
2COL2A1p.Gly504CysVAR_001746
3COL2A1p.Gly909CysVAR_001753
4COL2A1p.Gly897ValVAR_023931
5COL2A1p.Arg992GlyVAR_023932

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Strudwick Type:

7
id Gene Name Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.1060G> A (p.Gly354Arg)single nucleotide variantPathogenicrs121912871GRCh37Chr 12, 48383552: 48383552
2COL2A1NM_001844.4(COL2A1): c.2725G> T (p.Gly909Cys)single nucleotide variantPathogenicrs121912875GRCh37Chr 12, 48373302: 48373302
3COL2A1NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
4COL2A1NM_001844.4(COL2A1): c.1475G> T (p.Gly492Val)single nucleotide variantPathogenicrs121912881GRCh37Chr 12, 48380171: 48380171
5COL2A1NM_001844.4(COL2A1): c.2974A> G (p.Arg992Gly)single nucleotide variantPathogenicrs121912895GRCh37Chr 12, 48372103: 48372103

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Products for genes affiliated with Spondyloepimetaphyseal Dysplasia, Strudwick Type

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Sources for Spondyloepimetaphyseal Dysplasia, Strudwick Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet