MCID: SPN136
MIFTS: 13

Spondyloepimetaphyseal Dysplasia, Aggrecan Type malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 612813

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

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


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, aggrecan type 43 47 49
semd, aggrecan type 43 49


External Ids:

OMIM47 612813
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

612813

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
33MalaCards
See all sources

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

33
Bone

Animal Models for Spondyloepimetaphyseal Dysplasia, Aggrecan Type or affiliated genes

About this section

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet