MCID: SMC001
MIFTS: 9

Smc1a-Related Cornelia De Lange Syndrome

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

Aliases & Classifications for Smc1a-Related Cornelia De Lange Syndrome

MalaCards integrated aliases for Smc1a-Related Cornelia De Lange Syndrome:

Name: Smc1a-Related Cornelia De Lange Syndrome 24
Congenital Muscular Hypertrophy-Cerebral Syndrome 69
Cornelia De Lange Syndrome 2 24

Classifications:



Summaries for Smc1a-Related Cornelia De Lange Syndrome

MalaCards based summary : Smc1a-Related Cornelia De Lange Syndrome, also known as congenital muscular hypertrophy-cerebral syndrome, is related to cornelia de lange syndrome 2 and cornelia de lange syndrome. An important gene associated with Smc1a-Related Cornelia De Lange Syndrome is SMC1A (Structural Maintenance Of Chromosomes 1A).

Related Diseases for Smc1a-Related Cornelia De Lange Syndrome

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 4
Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Hdac8-Related Cornelia De Lange Syndrome
Nipbl-Related Cornelia De Lange Syndrome Rad21-Related Cornelia De Lange Syndrome
Smc1a-Related Cornelia De Lange Syndrome Smc3-Related Cornelia De Lange Syndrome

Diseases related to Smc1a-Related Cornelia De Lange Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 2 12.6
2 cornelia de lange syndrome 10.0

Symptoms & Phenotypes for Smc1a-Related Cornelia De Lange Syndrome

Drugs & Therapeutics for Smc1a-Related Cornelia De Lange Syndrome

Search Clinical Trials , NIH Clinical Center for Smc1a-Related Cornelia De Lange Syndrome

Genetic Tests for Smc1a-Related Cornelia De Lange Syndrome

Genetic tests related to Smc1a-Related Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Smc1a-Related Cornelia De Lange Syndrome 24 SMC1A

Anatomical Context for Smc1a-Related Cornelia De Lange Syndrome

Publications for Smc1a-Related Cornelia De Lange Syndrome

Variations for Smc1a-Related Cornelia De Lange Syndrome

Expression for Smc1a-Related Cornelia De Lange Syndrome

Search GEO for disease gene expression data for Smc1a-Related Cornelia De Lange Syndrome.

Pathways for Smc1a-Related Cornelia De Lange Syndrome

GO Terms for Smc1a-Related Cornelia De Lange Syndrome

Sources for Smc1a-Related Cornelia De Lange Syndrome

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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