MCID: SPN136
MIFTS: 12

Spondyloepimetaphyseal Dysplasia, Aggrecan Type malady

Bone diseases, Fetal diseases categories

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Spondyloepimetaphyseal Dysplasia, Aggrecan Type, is also known as semd, aggrecan type An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (aggrecan). Affiliated tissues include bone.

Description from OMIM:46 612813

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia, aggrecan type 42 46 48
semd, aggrecan type 42 48


External Ids:

OMIM46 612813
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section

Clinical Features for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

612813

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Drug clinical trials:

Search ClinicalTrials for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search CenterWatch 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:
32MalaCards
See all sources

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

32
Bone

Animal Models for Spondyloepimetaphyseal Dysplasia, Aggrecan Type or affiliated genes

About this section

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section

Genetic Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

62
id Symbol AA change Variation ID SNP ID
1ACANp.Asp2266AsnVAR_063053

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type

About this section
Sources:
1BioGPS, 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
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet