Cardioacrofacial Dysplasia 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

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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

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Related Diseases for Cardioacrofacial Dysplasia 2

Diseases in the Cardioacrofacial Dysplasia 2 family:

Cardioacrofacial Dysplasia 1

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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)

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Drugs & Therapeutics for Cardioacrofacial Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Cardioacrofacial Dysplasia 2

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Genetic Tests for Cardioacrofacial Dysplasia 2

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Anatomical Context for Cardioacrofacial Dysplasia 2

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

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Genes for Cardioacrofacial Dysplasia 2

Genes related to Cardioacrofacial Dysplasia 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	907.84	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	33058759

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Variations for Cardioacrofacial Dysplasia 2

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 2:

⁶

#	Gene	Name	Type	Significance	ClinVarId	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

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Expression for Cardioacrofacial Dysplasia 2

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

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Pathways for Cardioacrofacial Dysplasia 2

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GO Terms for Cardioacrofacial Dysplasia 2

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Sources for Cardioacrofacial Dysplasia 2

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Cardioacrofacial Dysplasia 2 (CAFD2)

Aliases & Classifications for Cardioacrofacial Dysplasia 2

MalaCards integrated aliases for Cardioacrofacial Dysplasia 2:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Cardioacrofacial Dysplasia 2

Related Diseases for Cardioacrofacial Dysplasia 2

Diseases in the Cardioacrofacial Dysplasia 2 family:

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 2

Human phenotypes related to Cardioacrofacial Dysplasia 2:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Genes for Cardioacrofacial Dysplasia 2

Genes related to Cardioacrofacial Dysplasia 2 (1 elite genes):

Variations for Cardioacrofacial Dysplasia 2

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 2:

Expression for Cardioacrofacial Dysplasia 2

Pathways for Cardioacrofacial Dysplasia 2

GO Terms for Cardioacrofacial Dysplasia 2

Sources for Cardioacrofacial Dysplasia 2