MCID: SPN136
MIFTS: 20

Spondyloepimetaphyseal Dysplasia, Aggrecan Type 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 50 46 23 52 12
Spondyloepimetaphyseal Dysplasia Aggrecan Type 68 25
Semd, Aggrecan Type 46 52
 
Semd Aggrecan Type 68
Semd-Acan 68

Characteristics:

Orphanet epidemiological data:

52
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 612813
Orphanet52 ORPHA171866
ICD10 via Orphanet29 Q77.7
MedGen35 C2748544
MeSH37 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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UniProtKB/Swiss-Prot:68 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:50 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 dysplasias10.1
2skeletal dysplasia10.1

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 spondyloepimetaphyseal dysplasia HP:0002651

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 Type25 23 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

68
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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet