MCID: SMC002
MIFTS: 7

Smc3-Related Cornelia De Lange Syndrome

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

Aliases & Classifications for Smc3-Related Cornelia De Lange Syndrome

MalaCards integrated aliases for Smc3-Related Cornelia De Lange Syndrome:

Name: Smc3-Related Cornelia De Lange Syndrome 24
Cornelia De Lange Syndrome 3 24 69

Classifications:



Summaries for Smc3-Related Cornelia De Lange Syndrome

MalaCards based summary : Smc3-Related Cornelia De Lange Syndrome, also known as cornelia de lange syndrome 3, is related to cornelia de lange syndrome 3. An important gene associated with Smc3-Related Cornelia De Lange Syndrome is SMC3 (Structural Maintenance Of Chromosomes 3).

Related Diseases for Smc3-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 Smc3-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 3 12.5

Symptoms & Phenotypes for Smc3-Related Cornelia De Lange Syndrome

Drugs & Therapeutics for Smc3-Related Cornelia De Lange Syndrome

Search Clinical Trials , NIH Clinical Center for Smc3-Related Cornelia De Lange Syndrome

Genetic Tests for Smc3-Related Cornelia De Lange Syndrome

Genetic tests related to Smc3-Related Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Smc3-Related Cornelia De Lange Syndrome 24 SMC3

Anatomical Context for Smc3-Related Cornelia De Lange Syndrome

Publications for Smc3-Related Cornelia De Lange Syndrome

Variations for Smc3-Related Cornelia De Lange Syndrome

ClinVar genetic disease variations for Smc3-Related Cornelia De Lange Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMC3 NM_005445.3(SMC3): c.1464_1466delAGA (p.Glu488del) deletion Pathogenic rs863223279 GRCh37 Chromosome 10, 112349704: 112349706
2 SMC3 NM_005445.3(SMC3): c.707G> C (p.Arg236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784429 GRCh38 Chromosome 10, 110582082: 110582082
3 SMC3 NM_005445.3(SMC3): c.1964G> A (p.Gly655Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587784425 GRCh37 Chromosome 10, 112356156: 112356156
4 SMC3 NM_005445.3(SMC3): c.2536-6_2540delTTACAGGAACT deletion Pathogenic rs727503775 GRCh37 Chromosome 10, 112360774: 112360784
5 SMC3 NM_005445.3(SMC3): c.2750A> C (p.His917Pro) single nucleotide variant Pathogenic rs797044861 GRCh37 Chromosome 10, 112361500: 112361500
6 SMC3 NM_005445.3(SMC3): c.139T> C (p.Phe47Leu) single nucleotide variant Pathogenic rs863225258 GRCh38 Chromosome 10, 110575344: 110575344
7 SMC3 NM_005445.3(SMC3): c.703_705delACT (p.Thr235del) deletion Pathogenic rs863225259 GRCh37 Chromosome 10, 112341836: 112341838
8 SMC3 NM_005445.3(SMC3): c.1462G> A (p.Glu488Lys) single nucleotide variant Pathogenic rs863225260 GRCh37 Chromosome 10, 112349702: 112349702
9 SMC3 NM_005445.3(SMC3): c.1997G> C (p.Gly666Ala) single nucleotide variant Pathogenic rs863225261 GRCh37 Chromosome 10, 112356189: 112356189

Expression for Smc3-Related Cornelia De Lange Syndrome

Search GEO for disease gene expression data for Smc3-Related Cornelia De Lange Syndrome.

Pathways for Smc3-Related Cornelia De Lange Syndrome

GO Terms for Smc3-Related Cornelia De Lange Syndrome

Sources for Smc3-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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