CAFD1
MCID: CRD248
MIFTS: 14

Cardioacrofacial Dysplasia 1 (CAFD1)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardioacrofacial Dysplasia 1

MalaCards integrated aliases for Cardioacrofacial Dysplasia 1:

Name: Cardioacrofacial Dysplasia 1 57 6
Cafd1 57

Characteristics:

HPO:

31
cardioacrofacial dysplasia 1:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 619142
OMIM Phenotypic Series 57 PS619142

Summaries for Cardioacrofacial Dysplasia 1

OMIM® : 57 Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features (Palencia-Campos et al., 2020). (619142) (Updated 05-Apr-2021)

MalaCards based summary : Cardioacrofacial Dysplasia 1, also known as cafd1, is related to cardioacrofacial dysplasia 2. An important gene associated with Cardioacrofacial Dysplasia 1 is PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha). Related phenotypes are genu valgum and hypoplasia of the maxilla

Related Diseases for Cardioacrofacial Dysplasia 1

Diseases in the Cardioacrofacial Dysplasia 2 family:

Cardioacrofacial Dysplasia 1

Diseases related to Cardioacrofacial Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardioacrofacial dysplasia 2 10.9

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 1

Human phenotypes related to Cardioacrofacial Dysplasia 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 genu valgum 31 very rare (1%) HP:0002857
2 hypoplasia of the maxilla 31 very rare (1%) HP:0000327
3 long face 31 very rare (1%) HP:0000276
4 short philtrum 31 very rare (1%) HP:0000322
5 midface retrusion 31 very rare (1%) HP:0011800
6 nail dysplasia 31 very rare (1%) HP:0002164
7 long thorax 31 very rare (1%) HP:0100818
8 limb undergrowth 31 very rare (1%) HP:0009826
9 accessory oral frenulum 31 very rare (1%) HP:0000191
10 conical tooth 31 very rare (1%) HP:0000698
11 overhanging nasal tip 31 very rare (1%) HP:0011833
12 postaxial polydactyly 31 very rare (1%) HP:0100259
13 diastema 31 very rare (1%) HP:0000699
14 complete atrioventricular canal defect 31 HP:0001674

Clinical features from OMIM®:

619142 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cardioacrofacial Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Cardioacrofacial Dysplasia 1

Genetic Tests for Cardioacrofacial Dysplasia 1

Anatomical Context for Cardioacrofacial Dysplasia 1

Publications for Cardioacrofacial Dysplasia 1

Articles related to Cardioacrofacial Dysplasia 1:

# Title Authors PMID Year
1
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. 6 57
33058759 2020

Variations for Cardioacrofacial Dysplasia 1

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKACA NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg) SNV Pathogenic 989460 GRCh37: 19:14211648-14211648
GRCh38: 19:14100836-14100836

Expression for Cardioacrofacial Dysplasia 1

Search GEO for disease gene expression data for Cardioacrofacial Dysplasia 1.

Pathways for Cardioacrofacial Dysplasia 1

GO Terms for Cardioacrofacial Dysplasia 1

Sources for Cardioacrofacial Dysplasia 1

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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