MCID: SMD002
MIFTS: 38

Smed Strudwick Type malady

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

Summaries for Smed Strudwick Type

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Genetics Home Reference:23 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: Smed Strudwick Type, also known as spondyloepimetaphyseal dysplasia, strudwick type, 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 Smed Strudwick Type is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include bone and lung.

Disease Ontology:10 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:47 The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature,... (184250) more...

Aliases & Classifications for Smed Strudwick Type

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Smed Strudwick Type, Aliases & Descriptions:

Name: Smed Strudwick Type 47 11 43
Spondyloepimetaphyseal Dysplasia, Strudwick Type 47 10 65 23
Spondyloepimetaphyseal Dysplasia Strudwick Type 43 22 24
Spondylometaphyseal Dysplasia 65 23 45
Dappled Metaphysis Syndrome 65 43 23
Strudwick Syndrome 65 43 23
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type 65 23
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type 43 49
 
Smed, Strudwick Type 65 23
Semd, Strudwick Type 65 23
Sed Strudwick 65 23
Smed, Type I 65 23
Spondylometaphyseal Dysplasia, Strudwick Type 65
Smed Type 1 43
Smd 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spondyloepimetaphyseal dysplasia congenita, strudwick type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM47 184250
Disease Ontology10 DOID:0080028
Orphanet49 93346
ICD10 via Orphanet28 Q77.7

Related Diseases for Smed Strudwick Type

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Graphical network of the top 20 diseases related to Smed Strudwick Type:



Diseases related to smed strudwick type

Symptoms for Smed Strudwick Type

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Symptoms by clinical synopsis from OMIM:

184250

Clinical features from OMIM:

184250

Symptoms:

 49 (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 Smed Strudwick Type:

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

Drugs & Therapeutics for Smed Strudwick Type

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Drug clinical trials:

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Genetic Tests for Smed Strudwick Type

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Genetic tests related to Smed Strudwick Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Strudwick Type22 COL2A1
2 Spondyloepimetaphyseal Dysplasia Strudwick Type24

Anatomical Context for Smed Strudwick Type

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MalaCards organs/tissues related to Smed Strudwick Type:

33
Bone, Lung

Animal Models for Smed Strudwick Type or affiliated genes

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Publications for Smed Strudwick Type

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Variations for Smed Strudwick Type

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UniProtKB/Swiss-Prot genetic disease variations for Smed Strudwick Type:

64
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 Smed Strudwick Type:

7
id Gene Variation 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 Smed Strudwick Type

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Search GEO for disease gene expression data for Smed Strudwick Type.

Pathways for genes affiliated with Smed Strudwick Type

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Compounds for genes affiliated with Smed Strudwick Type

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GO Terms for genes affiliated with Smed Strudwick Type

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Products for genes affiliated with Smed Strudwick Type

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  • Antibodies
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  • Antibodies
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  • Kits and Assays

Sources for Smed Strudwick Type

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet