MCID: SPN136
MIFTS: 19

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 51 47 24 53 12
Spondyloepimetaphyseal Dysplasia Aggrecan Type 69 26
Semd, Aggrecan Type 47 53
 
Semd Aggrecan Type 69
Semd-Acan 69

Characteristics:

Orphanet epidemiological data:

53
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 612813
Orphanet53 ORPHA171866
ICD10 via Orphanet30 Q77.7
MedGen36 C2748544
MeSH38 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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UniProtKB/Swiss-Prot:69 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:51 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 for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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Clinical features from OMIM:

612813

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 malar flattening63 3% HP:0000272
2 mandibular prognathia63 3% HP:0000303
3 posteriorly rotated ears63 3% HP:0000358
4 low-set ears63 3% HP:0000369
5 short neck63 3% HP:0000470
6 joint laxity63 3% HP:0001388
7 barrel-shaped chest63 3% HP:0001552
8 lumbar hyperlordosis63 3% HP:0002938
9 mesomelia63 3% HP:0003027
10 relative macrocephaly63 3% HP:0004482
11 absent nasal bridge63 3% HP:0005285
12 rhizomelia63 3% HP:0008905
13 short finger63 3% HP:0009381
14 broad thumb63 3% HP:0011304
15 hoarse voice63 2% HP:0001609
16 spondyloepimetaphyseal dysplasia63 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 Type26 24 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

35
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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet