CAFDADD
MCID: CRD243
MIFTS: 13

Cardiac, Facial, and Digital Anomalies with Developmental Delay (CAFDADD)

Categories: Genetic diseases

Aliases & Classifications for Cardiac, Facial, and Digital Anomalies with Developmental Delay

MalaCards integrated aliases for Cardiac, Facial, and Digital Anomalies with Developmental Delay:

Name: Cardiac, Facial, and Digital Anomalies with Developmental Delay 58 76 6
Cafdadd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


Classifications:



External Ids:

OMIM 58 618164
MeSH 45 D000015

Summaries for Cardiac, Facial, and Digital Anomalies with Developmental Delay

UniProtKB/Swiss-Prot : 76 Cardiac, facial, and digital anomalies with developmental delay: An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears.

MalaCards based summary : Cardiac, Facial, and Digital Anomalies with Developmental Delay, is also known as cafdadd. An important gene associated with Cardiac, Facial, and Digital Anomalies with Developmental Delay is TRAF7 (TNF Receptor Associated Factor 7). Affiliated tissues include heart and skin.

Description from OMIM: 618164

Related Diseases for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Symptoms & Phenotypes for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysplastic ears
hearing loss (in some patients)

Head And Neck Eyes:
ptosis
epicanthal folds
optic atrophy (in some patients)
cortical blindness (in some patients)

Cardiovascular Heart:
patent ductus arteriosus
hypoplastic left heart
double outlet right ventricle
congenital heart defects
pulmonary stenosis
more
Neurologic Central Nervous System:
cerebral atrophy
enlarged ventricles
seizures (in some patients)
speech delay
delayed development
more
Abdomen Gastrointestinal:
poor feeding

Respiratory:
respiratory distress, neonatal

Skeletal Feet:
distal contractures
overlapping digits

Skeletal Hands:
clinodactyly
distal contractures
overlapping digits
abnormal creases

Muscle Soft Tissue:
umbilical hernia
hypertonia
hypotonia

Head And Neck Neck:
cystic hygroma
excess nuchal skin

Chest Breasts:
widely spaced nipples

Skin Nails Hair Hair:
low hairline
multiple hair whorls

Head And Neck Face:
dysmorphic facies

Clinical features from OMIM:

618164

Drugs & Therapeutics for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Search Clinical Trials , NIH Clinical Center for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Genetic Tests for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Anatomical Context for Cardiac, Facial, and Digital Anomalies with Developmental Delay

MalaCards organs/tissues related to Cardiac, Facial, and Digital Anomalies with Developmental Delay:

42
Heart, Skin

Publications for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Variations for Cardiac, Facial, and Digital Anomalies with Developmental Delay

ClinVar genetic disease variations for Cardiac, Facial, and Digital Anomalies with Developmental Delay:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAF7 NM_032271.2(TRAF7): c.1964G> A (p.Arg655Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2176350: 2176350
2 TRAF7 NM_032271.2(TRAF7): c.1964G> A (p.Arg655Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2226351: 2226351
3 TRAF7 NM_032271.2(TRAF7): c.1801A> G (p.Thr601Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2226104: 2226104
4 TRAF7 NM_032271.2(TRAF7): c.1801A> G (p.Thr601Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2176103: 2176103
5 TRAF7 NM_032271.2(TRAF7): c.1036A> G (p.Lys346Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2173504: 2173504
6 TRAF7 NM_032271.2(TRAF7): c.1036A> G (p.Lys346Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2223505: 2223505
7 TRAF7 NM_032271.2(TRAF7): c.1111C> G (p.Arg371Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 2223813: 2223813
8 TRAF7 NM_032271.2(TRAF7): c.1111C> G (p.Arg371Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 2173812: 2173812

Expression for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Search GEO for disease gene expression data for Cardiac, Facial, and Digital Anomalies with Developmental Delay.

Pathways for Cardiac, Facial, and Digital Anomalies with Developmental Delay

GO Terms for Cardiac, Facial, and Digital Anomalies with Developmental Delay

Sources for Cardiac, Facial, and Digital Anomalies with Developmental Delay

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....