CAFD1
MCID: CRD248
MIFTS: 18
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Cardioacrofacial Dysplasia 1 (CAFD1)
Categories:
Cardiovascular diseases, Genetic diseases, Mental diseases
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MalaCards integrated aliases for Cardioacrofacial Dysplasia 1: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: |
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. |
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 1:30 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:619142 (Updated 08-Dec-2022) |
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Articles related to Cardioacrofacial Dysplasia 1:
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ClinVar genetic disease variations for Cardioacrofacial Dysplasia 1:5
UniProtKB/Swiss-Prot genetic disease variations for Cardioacrofacial Dysplasia 1:73
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Search
GEO
for disease gene expression data for Cardioacrofacial Dysplasia 1.
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