SEMD-ACAN
MCID: SPN136
MIFTS: 19

Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMD-ACAN) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 52 48 24 54 12
Spondyloepimetaphyseal Dysplasia Aggrecan Type 70 27
Semd, Aggrecan Type 48 54
 
Semd Aggrecan Type 70
Semd-Acan 70

Characteristics:

Orphanet epidemiological data:

54
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 612813
Orphanet54 ORPHA171866
ICD10 via Orphanet31 Q77.7
MedGen37 C2748544
MeSH39 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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UniProtKB/Swiss-Prot:70 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 spondyloepimetaphyseal dysplasia 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:52 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 dysplasias10.0
2skeletal dysplasia10.0

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Clinical features from OMIM:

612813

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 malar flattening64 HP:0000272
2 mandibular prognathia64 HP:0000303
3 posteriorly rotated ears64 HP:0000358
4 low-set ears64 HP:0000369
5 short neck64 HP:0000470
6 joint laxity64 HP:0001388
7 barrel-shaped chest64 HP:0001552
8 hoarse voice64 HP:0001609
9 spondyloepimetaphyseal dysplasia64 HP:0002651
10 lumbar hyperlordosis64 HP:0002938
11 mesomelia64 HP:0003027
12 relative macrocephaly64 HP:0004482
13 absent nasal bridge64 HP:0005285
14 rhizomelia64 HP:0008905
15 short finger64 HP:0009381
16 broad thumb64 HP:0011304

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 Type27 24 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

36
Bone

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:

70
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)SNVPathogenicrs121913568GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet