CAFDADD
MCID: CRD243
MIFTS: 22

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 56 73 6
Cafdadd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

31
cardiac, facial, and digital anomalies with developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, and related phenotypes are hearing impairment and optic atrophy

OMIM : 56 CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018). (618164)

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

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

Human phenotypes related to Cardiac, Facial, and Digital Anomalies with Developmental Delay:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 optic atrophy 31 very rare (1%) HP:0000648
3 tethered cord 31 very rare (1%) HP:0002144
4 cerebral visual impairment 31 very rare (1%) HP:0100704
5 seizure 31 very rare (1%) HP:0001250
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 umbilical hernia 31 HP:0001537
9 abnormal facial shape 31 HP:0001999
10 hypertonia 31 HP:0001276
11 feeding difficulties 31 HP:0011968
12 wide intermamillary distance 31 HP:0006610
13 low-set ears 31 HP:0000369
14 thickened nuchal skin fold 31 HP:0000474
15 epicanthus 31 HP:0000286
16 cystic hygroma 31 HP:0000476
17 ptosis 31 HP:0000508
18 coarctation of aorta 31 HP:0001680
19 hypoplastic left heart 31 HP:0004383
20 neonatal respiratory distress 31 HP:0002643
21 patent ductus arteriosus 31 HP:0001643
22 ventriculomegaly 31 HP:0002119
23 pulmonic stenosis 31 HP:0001642
24 cerebral atrophy 31 HP:0002059
25 generalized hypotonia 31 HP:0001290
26 abnormality of the pinna 31 HP:0000377
27 clinodactyly 31 HP:0030084
28 double outlet right ventricle 31 HP:0001719

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
umbilical hernia
hypertonia
hypotonia

Head And Neck Neck:
cystic hygroma
excess nuchal skin

Cardiovascular Heart:
hypoplastic left heart
patent ductus arteriosus
double outlet right ventricle
congenital heart defects
pulmonary stenosis
more
Skeletal Hands:
clinodactyly
distal contractures
overlapping digits
abnormal creases

Abdomen Gastrointestinal:
poor feeding

Respiratory:
respiratory distress, neonatal

Skeletal Feet:
distal contractures
overlapping digits

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)

Neurologic Central Nervous System:
cerebral atrophy
enlarged ventricles
seizures (in some patients)
speech delay
delayed development
more
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:

40
Heart, Skin

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

Articles related to Cardiac, Facial, and Digital Anomalies with Developmental Delay:

# Title Authors PMID Year
1
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 56 6
29961569 2018
2
Excess of rare, inherited truncating mutations in autism. 6 56
25961944 2015

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAF7 NM_032271.3(TRAF7):c.1801A>G (p.Thr601Ala)SNV Pathogenic 587686 rs1567254067 16:2226104-2226104 16:2176103-2176103
2 TRAF7 NM_032271.3(TRAF7):c.1036A>G (p.Lys346Glu)SNV Pathogenic 587687 rs1567252467 16:2223505-2223505 16:2173504-2173504
3 TRAF7 NM_032271.3(TRAF7):c.1111C>G (p.Arg371Gly)SNV Pathogenic 587688 rs1567252659 16:2223813-2223813 16:2173812-2173812
4 TRAF7 NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)SNV Pathogenic/Likely pathogenic 587685 rs1331463984 16:2226351-2226351 16:2176350-2176350
5 TRAF7 NM_032271.3(TRAF7):c.1510G>C (p.Asp504His)SNV Uncertain significance 828026 16:2225507-2225507 16:2175506-2175506

UniProtKB/Swiss-Prot genetic disease variations for Cardiac, Facial, and Digital Anomalies with Developmental Delay:

73
# Symbol AA change Variation ID SNP ID
1 TRAF7 p.Lys346Glu VAR_081685
2 TRAF7 p.Arg371Gly VAR_081686
3 TRAF7 p.Thr601Ala VAR_081687
4 TRAF7 p.Arg655Gln VAR_081688 rs133146398

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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