MCID: SPN136
MIFTS: 13

Spondyloepimetaphyseal Dysplasia, Aggrecan Type malady

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

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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48OMIM, 34MalaCards
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MalaCards: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to skeletal dysplasias. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (aggrecan). Affiliated tissues include bone.

Description from OMIM:48 612813

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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44NIH Rare Diseases, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, aggrecan type 44 48 50
semd, aggrecan type 44 50


External Ids:

OMIM48 612813
ICD10 via Orphanet27 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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18GeneCards, 19GeneDecks
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Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1skeletal dysplasias10.3

Symptoms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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48OMIM
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Clinical features from OMIM:

612813

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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34MalaCards
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

65
id Symbol AA change Variation ID SNP ID
1ACANp.Asp2266AsnVAR_063053

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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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Products for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet