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

Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

Name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type 54 50 24 56 13
Spondyloepimetaphyseal Dysplasia Aggrecan Type 66 29
Semd, Aggrecan Type 50 56
Semd Aggrecan Type 66
Semd-Acan 66

Characteristics:

Orphanet epidemiological data:

56
spondyloepimetaphyseal dysplasia, aggrecan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
spondyloepimetaphyseal dysplasia, aggrecan type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612813
Orphanet 56 ORPHA171866
ICD10 via Orphanet 34 Q77.7
MedGen 40 C2748544
MeSH 42 D001848

Summaries for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

UniProtKB/Swiss-Prot : 66 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 joint laxity, malar flattening and low-set ears. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM: 612813

Related Diseases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 10.0
2 skeletal dysplasia 10.0

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Clinical features from OMIM:

612813

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 malar flattening 32 HP:0000272
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 mandibular prognathia 32 HP:0000303
6 broad thumb 32 HP:0011304
7 rhizomelia 32 HP:0008905
8 hoarse voice 32 HP:0001609
9 short finger 32 HP:0009381
10 lumbar hyperlordosis 32 HP:0002938
11 mesomelia 32 HP:0003027
12 posteriorly rotated ears 32 HP:0000358
13 absent nasal bridge 32 HP:0005285
14 spondyloepimetaphyseal dysplasia 32 HP:0002651
15 barrel-shaped chest 32 HP:0001552
16 relative macrocephaly 32 HP:0004482

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 29 24 ACAN

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

39
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

66
id Symbol AA change Variation ID SNP ID
1 ACAN p.Asp2266Asn VAR_063053

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.7141G> A (p.Asp2381Asn) single nucleotide variant Pathogenic rs121913568 GRCh37 Chromosome 15, 89415269: 89415269

Expression for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Aggrecan Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Sources for Spondyloepimetaphyseal Dysplasia, Aggrecan Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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