CAFD2
MCID: CRD249
MIFTS: 25

Cardioacrofacial Dysplasia 2 (CAFD2)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases
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Aliases & Classifications for Cardioacrofacial Dysplasia 2

MalaCards integrated aliases for Cardioacrofacial Dysplasia 2:

Name: Cardioacrofacial Dysplasia 2 57 73 28 5
Cafd2 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



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 08-Dec-2022)

MalaCards based summary: Cardioacrofacial Dysplasia 2, also known as cafd2, is related to hypertelorism and polydactyly, postaxial, type a1. An important gene associated with Cardioacrofacial Dysplasia 2 is PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta). Related phenotypes are hypertelorism and mandibular prognathia

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. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures.

Related Diseases for Cardioacrofacial Dysplasia 2

Diseases in the Cardioacrofacial Dysplasia 2 family:

Cardioacrofacial Dysplasia 1

Diseases related to Cardioacrofacial Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.1
2 polydactyly, postaxial, type a1 10.1
3 orofaciodigital syndrome i 10.1
4 polydactyly 10.1
5 atrioventricular septal defect 10.1
6 heart septal defect 10.1
7 orofaciodigital syndrome 10.1

Graphical network of the top 20 diseases related to Cardioacrofacial Dysplasia 2:



Diseases related to Cardioacrofacial Dysplasia 2

Symptoms & Phenotypes for Cardioacrofacial Dysplasia 2

Human phenotypes related to Cardioacrofacial Dysplasia 2:

30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 30 Very rare (1%) HP:0000316
2 mandibular prognathia 30 Very rare (1%) HP:0000303
3 genu valgum 30 Very rare (1%) HP:0002857
4 brachydactyly 30 Very rare (1%) HP:0001156
5 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
6 long face 30 Very rare (1%) HP:0000276
7 deep philtrum 30 Very rare (1%) HP:0002002
8 short philtrum 30 Very rare (1%) HP:0000322
9 broad forehead 30 Very rare (1%) HP:0000337
10 hypodontia 30 Very rare (1%) HP:0000668
11 narrow chest 30 Very rare (1%) HP:0000774
12 tented upper lip vermilion 30 Very rare (1%) HP:0010804
13 nail dysplasia 30 Very rare (1%) HP:0002164
14 atrioventricular canal defect 30 Very rare (1%) HP:0006695
15 postaxial hand polydactyly 30 Very rare (1%) HP:0001162
16 postaxial foot polydactyly 30 Very rare (1%) HP:0001830
17 long thorax 30 Very rare (1%) HP:0100818
18 limb undergrowth 30 Very rare (1%) HP:0009826
19 accessory oral frenulum 30 Very rare (1%) HP:0000191
20 conical tooth 30 Very rare (1%) HP:0000698
21 prominent nasal tip 30 Very rare (1%) HP:0005274
22 common atrium 30 Very rare (1%) HP:0011565
23 clubbing 30 Very rare (1%) HP:0001217
24 recurrent patellar dislocation 30 Very rare (1%) HP:0005001
25 left superior vena cava draining to coronary sinus 30 Very rare (1%) HP:0011670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteoporosis
joint hyperlaxity

Skeletal Hands:
brachydactyly
postaxial polydactyly
short metacarpals
broad thumbs
hypoplastic distal phalanges
more
Head And Neck Face:
long face
deep philtrum
short philtrum
broad forehead
broad chin
more
Skeletal Pelvis:
coxa vara
prominent iliac wings
notching at sacroiliac joint

Cardiovascular Heart:
atrial fibrillation
mitral valve regurgitation
single atrium
atrioventricular septal defect, partial or complete
mitral anomaly

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
severe anxiety

Skeletal Limbs:
genua valga
short long bones
cubitus varus
recurrent dislocated patellae

Cardiovascular Vascular:
persistent left superior vena cava draining into coronary sinus

Neurologic Central Nervous System:
dural ectasia
dyslexia
language delay, mild
impaired intellectual development, mild to severe
balance problems
more
Skeletal Feet:
brachydactyly
postaxial polydactyly
short metatarsals
broad feet
broad great toes
more
Head And Neck Teeth:
hypodontia
small upper central incisors
conical lateral incisor
supernumerary lower lateral incisors

Chest External Features:
long thorax
narrow thorax

Skin Nails Hair Nails:
nail dystrophy

Head And Neck Nose:
prominent nasal tip
broad nose
underdeveloped nasolabial folds

Head And Neck Mouth:
tented upper lip
multiple oral frenula
fusion of parts of upper and lower lip to gingival mucosa

Clinical features from OMIM®:

619143 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cardioacrofacial Dysplasia 2

Search Clinical Trials, NIH Clinical Center for Cardioacrofacial Dysplasia 2

Genetic Tests for Cardioacrofacial Dysplasia 2

Genetic tests related to Cardioacrofacial Dysplasia 2:

# Genetic test Affiliating Genes
1 Cardioacrofacial Dysplasia 2 28 PRKACB

Anatomical Context for Cardioacrofacial Dysplasia 2

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. 57 5
33058759 2020
2
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome. 62
35439611 2022

Variations for Cardioacrofacial Dysplasia 2

ClinVar genetic disease variations for Cardioacrofacial Dysplasia 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKACB NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg) SNV Pathogenic
989456 rs1670492319 GRCh37: 1:84668426-84668426
GRCh38: 1:84202743-84202743
2 PRKACB NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu) SNV Pathogenic
989457 rs1663748771 GRCh37: 1:84647935-84647935
GRCh38: 1:84182252-84182252
3 PRKACB NM_182948.4(PRKACB):c.404A>G (p.His135Arg) SNV Pathogenic
989458 rs768056300 GRCh37: 1:84649745-84649745
GRCh38: 1:84184062-84184062
4 PRKACB NM_182948.4(PRKACB):c.403C>A (p.His135Asn) SNV Pathogenic
989459 rs748898273 GRCh37: 1:84649744-84649744
GRCh38: 1:84184061-84184061
5 PRKACB NM_182948.4(PRKACB):c.640G>C (p.Asp214His) SNV Uncertain Significance
1687603 GRCh37: 1:84662378-84662378
GRCh38: 1:84196695-84196695

UniProtKB/Swiss-Prot genetic disease variations for Cardioacrofacial Dysplasia 2:

73
# Symbol AA change Variation ID SNP ID
1 PRKACB p.Ser54Leu VAR_085199
2 PRKACB p.His88Asn VAR_085200
3 PRKACB p.His88Arg VAR_085201 rs768056300
4 PRKACB p.Gly235Arg VAR_085202

Expression for Cardioacrofacial Dysplasia 2

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

Pathways for Cardioacrofacial Dysplasia 2

GO Terms for Cardioacrofacial Dysplasia 2

Sources for Cardioacrofacial Dysplasia 2

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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