CAFDADD
MCID: CRD243
MIFTS: 18

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:



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, and related phenotypes are seizures and hearing impairment

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

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

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hearing impairment 33 very rare (1%) HP:0000365
3 optic atrophy 33 very rare (1%) HP:0000648
4 tethered cord 33 very rare (1%) HP:0002144
5 cerebral visual impairment 33 very rare (1%) HP:0100704
6 low-set ears 33 HP:0000369
7 clinodactyly 33 HP:0030084
8 ptosis 33 HP:0000508
9 global developmental delay 33 HP:0001263
10 delayed speech and language development 33 HP:0000750
11 umbilical hernia 33 HP:0001537
12 hypertonia 33 HP:0001276
13 patent ductus arteriosus 33 HP:0001643
14 epicanthus 33 HP:0000286
15 thickened nuchal skin fold 33 HP:0000474
16 cystic hygroma 33 HP:0000476
17 coarctation of aorta 33 HP:0001680
18 hypoplastic left heart 33 HP:0004383
19 abnormality of the pinna 33 HP:0000377
20 ventriculomegaly 33 HP:0002119
21 pulmonic stenosis 33 HP:0001642
22 generalized hypotonia 33 HP:0001290
23 cerebral atrophy 33 HP:0002059
24 double outlet right ventricle 33 HP:0001719

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

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

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