CAFD2
MCID: CRD249
MIFTS: 16

Cardioacrofacial Dysplasia 2 (CAFD2)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardioacrofacial Dysplasia 2

MalaCards integrated aliases for Cardioacrofacial Dysplasia 2:

Name: Cardioacrofacial Dysplasia 2 57 6
Cafd2 57

Characteristics:

HPO:

31
cardioacrofacial dysplasia 2:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Cardioacrofacial Dysplasia 2

OMIM® : 57 Cardioacrofacial dysplasia-2 (CAFD2) 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. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020). For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142). (619143) (Updated 05-Apr-2021)

MalaCards based summary : Cardioacrofacial Dysplasia 2, is also known as cafd2. An important gene associated with Cardioacrofacial Dysplasia 2 is PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta). Related phenotypes are hypertelorism and mandibular prognathia

Related Diseases for Cardioacrofacial Dysplasia 2

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 2

Human phenotypes related to Cardioacrofacial Dysplasia 2:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 very rare (1%) HP:0000316
2 mandibular prognathia 31 very rare (1%) HP:0000303
3 genu valgum 31 very rare (1%) HP:0002857
4 brachydactyly 31 very rare (1%) HP:0001156
5 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
6 long face 31 very rare (1%) HP:0000276
7 deep philtrum 31 very rare (1%) HP:0002002
8 short philtrum 31 very rare (1%) HP:0000322
9 broad forehead 31 very rare (1%) HP:0000337
10 hypodontia 31 very rare (1%) HP:0000668
11 narrow chest 31 very rare (1%) HP:0000774
12 tented upper lip vermilion 31 very rare (1%) HP:0010804
13 nail dysplasia 31 very rare (1%) HP:0002164
14 atrioventricular canal defect 31 very rare (1%) HP:0006695
15 postaxial hand polydactyly 31 very rare (1%) HP:0001162
16 postaxial foot polydactyly 31 very rare (1%) HP:0001830
17 long thorax 31 very rare (1%) HP:0100818
18 limb undergrowth 31 very rare (1%) HP:0009826
19 accessory oral frenulum 31 very rare (1%) HP:0000191
20 conical tooth 31 very rare (1%) HP:0000698
21 prominent nasal tip 31 very rare (1%) HP:0005274
22 common atrium 31 very rare (1%) HP:0011565
23 clubbing 31 very rare (1%) HP:0001217
24 recurrent patellar dislocation 31 very rare (1%) HP:0005001
25 left superior vena cava draining to coronary sinus 31 very rare (1%) HP:0011670

Clinical features from OMIM®:

619143 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cardioacrofacial Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Cardioacrofacial Dysplasia 2

Genetic Tests for Cardioacrofacial Dysplasia 2

Anatomical Context for Cardioacrofacial Dysplasia 2

Publications for Cardioacrofacial Dysplasia 2

Articles related to Cardioacrofacial Dysplasia 2:

# 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 2

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKACB NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg) SNV Pathogenic 989456 GRCh37: 1:84668426-84668426
GRCh38: 1:84202743-84202743
2 PRKACB NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu) SNV Pathogenic 989457 GRCh37: 1:84647935-84647935
GRCh38: 1:84182252-84182252
3 PRKACB NM_182948.4(PRKACB):c.404A>G (p.His135Arg) SNV Pathogenic 989458 GRCh37: 1:84649745-84649745
GRCh38: 1:84184062-84184062
4 PRKACB NM_182948.4(PRKACB):c.403C>A (p.His135Asn) SNV Pathogenic 989459 GRCh37: 1:84649744-84649744
GRCh38: 1:84184061-84184061

Expression for Cardioacrofacial Dysplasia 2

Search GEO for disease gene expression data for Cardioacrofacial Dysplasia 2.

Pathways for Cardioacrofacial Dysplasia 2

GO Terms for Cardioacrofacial Dysplasia 2

Sources for Cardioacrofacial Dysplasia 2

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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