CAFDADD
MCID: CRD243
MIFTS: 21

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 seizures and hearing impairment

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

Symptoms via clinical synopsis from OMIM:

56
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:

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. 56 6
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

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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