MCID: SPN136
MIFTS: 21

Spondyloepimetaphyseal Dysplasia, Aggrecan Type malady

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 49 11 45 22 51
Semd, Aggrecan Type 45 51
Spondyloepimetaphyseal Dysplasia Aggrecan Type 67
 
Semd Aggrecan Type 67
Semd-Acan 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 612813
Orphanet51 171866
ICD10 via Orphanet28 Q77.7
MedGen34 C2748544
MeSH36 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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UniProtKB/Swiss-Prot:67 Spondyloepimetaphyseal dysplasia aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to skeletal dysplasias and skeletal dysplasia, and has symptoms including malar flattening, mandibular prognathia and posteriorly rotated ears. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM:49 612813

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

idRelated DiseaseScoreTop Affiliating Genes
1skeletal dysplasias10.4
2skeletal dysplasia10.4

Symptoms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Clinical features from OMIM:

612813

HPO human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

(show all 17)
id Description Frequency HPO Source Accession
1 malar flattening 3% HP:0000272
2 mandibular prognathia 3% HP:0000303
3 posteriorly rotated ears 3% HP:0000358
4 low-set ears 3% HP:0000369
5 short neck 3% HP:0000470
6 joint laxity 3% HP:0001388
7 barrel-shaped chest 3% HP:0001552
8 lumbar hyperlordosis 3% HP:0002938
9 mesomelia 3% HP:0003027
10 relative macrocephaly 3% HP:0004482
11 absent nasal bridge 3% HP:0005285
12 rhizomelia 3% HP:0008905
13 short finger 3% HP:0009381
14 broad thumb 3% HP:0011304
15 hoarse voice 2% HP:0001609
16 autosomal recessive inheritance HP:0000007
17 spondyloepimetaphyseal dysplasia HP:0002651

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Aggrecan Type22 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

33
Bone

Animal Models for Spondyloepimetaphyseal Dysplasia, Aggrecan Type or affiliated genes

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Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

67
id Symbol AA change Variation ID SNP ID
1ACANp.Asp2266AsnVAR_063053

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACANNM_013227.3(ACAN): c.7141G> A (p.Asp2381Asn)single nucleotide variantPathogenicrs121913568GRCh37Chr 15, 89415269: 89415269

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Aggrecan Type.

Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet