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CAFD1
MCID: CRD248
MIFTS: 14
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Cardioacrofacial Dysplasia 1 (CAFD1)
Categories:
Cardiovascular diseases, Genetic diseases
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MalaCards integrated aliases for Cardioacrofacial Dysplasia 1:
Name: Cardioacrofacial Dysplasia 1
57
6
Characteristics:HPO:31
cardioacrofacial dysplasia 1:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications: |
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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 |
Diseases in the Cardioacrofacial Dysplasia 2 family:
Diseases related to Cardioacrofacial Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Cardioacrofacial Dysplasia 1:31 (show all 14)
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Articles related to Cardioacrofacial Dysplasia 1:
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Genes related to Cardioacrofacial Dysplasia 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Cardioacrofacial Dysplasia 1.
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