MCID: SPN136
MIFTS: 15

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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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 46 9 42 48
 
Semd, Aggrecan Type 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM46 612813
Orphanet48 171866
ICD10 via Orphanet26 Q77.7

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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MalaCards based summary: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to skeletal dysplasias, 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:46 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 dysplasias10.3

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 16)
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

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Drug clinical trials:

Search ClinicalTrials for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

31
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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet