Cardioacrofacial Dysplasia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619142

OMIM Phenotypic Series ⁵⁷ PS619142

MeSH ⁴³ D006330 D017880

MedGen ⁴⁰ C5436885 CN293613

SNOMED-CT via HPO ⁶⁹ 249328007 29553002 298710001 more

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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.

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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

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Symptoms & Phenotypes for Cardioacrofacial Dysplasia 1

Human phenotypes related to Cardioacrofacial Dysplasia 1:

³⁰ (show all 14)

#	Description	HPO 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)

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Drugs & Therapeutics for Cardioacrofacial Dysplasia 1

Search Clinical Trials, NIH Clinical Center for Cardioacrofacial Dysplasia 1

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Genetic Tests for Cardioacrofacial Dysplasia 1

Genetic tests related to Cardioacrofacial Dysplasia 1:

#	Genetic test	Affiliating Genes
1	Cardioacrofacial Dysplasia 1 ²⁸	PRKACA

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Anatomical Context for Cardioacrofacial Dysplasia 1

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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	Palencia-Campos A...Ruiz-Perez VL	33058759	2020

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Genes for Cardioacrofacial Dysplasia 1

Genes related to Cardioacrofacial Dysplasia 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1307.75	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	33058759

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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

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Expression for Cardioacrofacial Dysplasia 1

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

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Pathways for Cardioacrofacial Dysplasia 1

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GO Terms for Cardioacrofacial Dysplasia 1

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Sources for Cardioacrofacial Dysplasia 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁵ DrugBank

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¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CAFD1 MCID: CRD248 MIFTS: 18	Cardioacrofacial Dysplasia 1 (CAFD1) Categories: Cardiovascular diseases, Genetic diseases, Mental diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Cardioacrofacial Dysplasia 1 (CAFD1)

Aliases & Classifications for Cardioacrofacial Dysplasia 1

MalaCards integrated aliases for Cardioacrofacial Dysplasia 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Cardioacrofacial Dysplasia 1

Related Diseases for Cardioacrofacial Dysplasia 1

Diseases in the Cardioacrofacial Dysplasia 2 family:

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

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 1

Human phenotypes related to Cardioacrofacial Dysplasia 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Cardioacrofacial Dysplasia 1

Genetic Tests for Cardioacrofacial Dysplasia 1

Genetic tests related to Cardioacrofacial Dysplasia 1:

Anatomical Context for Cardioacrofacial Dysplasia 1

Publications for Cardioacrofacial Dysplasia 1

Articles related to Cardioacrofacial Dysplasia 1:

Genes for Cardioacrofacial Dysplasia 1

Genes related to Cardioacrofacial Dysplasia 1 (1 elite genes):

Variations for Cardioacrofacial Dysplasia 1

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 1:

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

Expression for Cardioacrofacial Dysplasia 1

Pathways for Cardioacrofacial Dysplasia 1

GO Terms for Cardioacrofacial Dysplasia 1

Sources for Cardioacrofacial Dysplasia 1