CAFD1
MCID: CRD248
MIFTS: 18

Cardioacrofacial Dysplasia 1 (CAFD1)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases
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Aliases & Classifications for Cardioacrofacial Dysplasia 1

MalaCards integrated aliases for Cardioacrofacial Dysplasia 1:

Name: Cardioacrofacial Dysplasia 1 57 73 28 5
Cafd1 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death may occur in neonatal period or infancy due to respiratory failure


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 08-Dec-2022)

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 long face

UniProtKB/Swiss-Prot: 73 An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly.

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 11.0

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 1

Human phenotypes related to Cardioacrofacial Dysplasia 1:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 30 Very rare (1%) HP:0002857
2 long face 30 Very rare (1%) HP:0000276
3 short philtrum 30 Very rare (1%) HP:0000322
4 midface retrusion 30 Very rare (1%) HP:0011800
5 hypoplasia of the maxilla 30 Very rare (1%) HP:0000327
6 nail dysplasia 30 Very rare (1%) HP:0002164
7 long thorax 30 Very rare (1%) HP:0100818
8 limb undergrowth 30 Very rare (1%) HP:0009826
9 accessory oral frenulum 30 Very rare (1%) HP:0000191
10 conical tooth 30 Very rare (1%) HP:0000698
11 overhanging nasal tip 30 Very rare (1%) HP:0011833
12 postaxial polydactyly 30 Very rare (1%) HP:0100259
13 diastema 30 Very rare (1%) HP:0000699
14 complete atrioventricular canal defect 30 HP:0001674

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Limbs:
cubitus valgus
micromelia
genua valga
short long bones

Skeletal Hands:
brachydactyly
postaxial polydactyly, bilateral

Head And Neck Face:
facial asymmetry
long face
short philtrum
midface hypoplasia
hypoplastic maxilla

Chest External Features:
long thorax
narrow thorax

Head And Neck Nose:
prominent nose
overhanging nasal tip

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Head And Neck Mouth:
multiple oral frenula
notched upper lip
short lingual frenum

Cardiovascular Heart:
atrial septal defect
mitral regurgitation
ventricular septal defect
single ventricle
atrioventricular canal
more
Skeletal Feet:
brachydactyly
sandal gap
postaxial polydactyly, unilateral or bilateral

Head And Neck Teeth:
hypodontia
diastema
conical teeth
crossbite
early decay

Skin Nails Hair Nails:
nail dystrophy

Growth Height:
disproportionate short stature

Cardiovascular Vascular:
pulmonary hypertension
great vessel abnormalities

Clinical features from OMIM®:

619142 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cardioacrofacial Dysplasia 1

Search Clinical Trials, NIH Clinical Center for Cardioacrofacial Dysplasia 1

Genetic Tests for Cardioacrofacial Dysplasia 1

Genetic tests related to Cardioacrofacial Dysplasia 1:

# Genetic test Affiliating Genes
1 Cardioacrofacial Dysplasia 1 28 PRKACA

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. 57 5
33058759 2020

Variations for Cardioacrofacial Dysplasia 1

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKACA NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg) SNV Pathogenic/Likely Pathogenic
989460 rs148280386 GRCh37: 19:14211648-14211648
GRCh38: 19:14100836-14100836

UniProtKB/Swiss-Prot genetic disease variations for Cardioacrofacial Dysplasia 1:

73
# Symbol AA change Variation ID SNP ID
1 PRKACA p.Gly137Arg VAR_085198

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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