CFNDS
MCID: CRD247
MIFTS: 10

Cardiofacioneurodevelopmental Syndrome (CFNDS)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiofacioneurodevelopmental Syndrome

MalaCards integrated aliases for Cardiofacioneurodevelopmental Syndrome:

Name: Cardiofacioneurodevelopmental Syndrome 57 6
Cfnds 57

Classifications:



External Ids:

OMIM® 57 619123

Summaries for Cardiofacioneurodevelopmental Syndrome

OMIM® : 57 Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020). (619123) (Updated 05-Apr-2021)

MalaCards based summary : Cardiofacioneurodevelopmental Syndrome, is also known as cfnds. An important gene associated with Cardiofacioneurodevelopmental Syndrome is CCDC32 (Coiled-Coil Domain Containing 32).

Related Diseases for Cardiofacioneurodevelopmental Syndrome

Symptoms & Phenotypes for Cardiofacioneurodevelopmental Syndrome

Clinical features from OMIM®:

619123 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cardiofacioneurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiofacioneurodevelopmental Syndrome

Genetic Tests for Cardiofacioneurodevelopmental Syndrome

Anatomical Context for Cardiofacioneurodevelopmental Syndrome

Publications for Cardiofacioneurodevelopmental Syndrome

Articles related to Cardiofacioneurodevelopmental Syndrome:

# Title Authors PMID Year
1
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. 6 57
32307552 2020
2
Nanodiamonds inhibit scratch-wound repair in lung epithelial cell monolayers by blocking cell migration and inhibiting cell proliferation. 61
33508333 2021
3
Cyclic Naphthalene Diimide with a Ferrocene Moiety as a Redox-Active Tetraplex-DNA Ligand. 61
31680317 2020

Variations for Cardiofacioneurodevelopmental Syndrome

ClinVar genetic disease variations for Cardiofacioneurodevelopmental Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC32 NM_001080792.4(CCDC32):c.27dup (p.Thr10fs) Duplication Pathogenic 988600 GRCh37: 15:40855187-40855188
GRCh38: 15:40562988-40562989
2 CCDC32 NM_001080792.4(CCDC32):c.162_163dup (p.Glu55fs) Duplication Pathogenic 988601 GRCh37: 15:40855051-40855052
GRCh38: 15:40562852-40562853

Expression for Cardiofacioneurodevelopmental Syndrome

Search GEO for disease gene expression data for Cardiofacioneurodevelopmental Syndrome.

Pathways for Cardiofacioneurodevelopmental Syndrome

GO Terms for Cardiofacioneurodevelopmental Syndrome

Sources for Cardiofacioneurodevelopmental Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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