MCID: CNG503
MIFTS: 17

Congenital Heart Defects and Ectodermal Dysplasia

Categories: Genetic diseases

Aliases & Classifications for Congenital Heart Defects and Ectodermal Dysplasia

MalaCards integrated aliases for Congenital Heart Defects and Ectodermal Dysplasia:

Name: Congenital Heart Defects and Ectodermal Dysplasia 57 75 6
Chded 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
dysmorphic features are variable
three unrelated patients have been reported (last curated february 2017)


HPO:

32
congenital heart defects and ectodermal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects and Ectodermal Dysplasia

UniProtKB/Swiss-Prot : 75 Congenital heart defects and ectodermal dysplasia: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation.

MalaCards based summary : Congenital Heart Defects and Ectodermal Dysplasia, is also known as chded. An important gene associated with Congenital Heart Defects and Ectodermal Dysplasia is PRKD1 (Protein Kinase D1). Affiliated tissues include heart and skin, and related phenotypes are microcephaly and prominent nasal bridge

Description from OMIM: 617364

Related Diseases for Congenital Heart Defects and Ectodermal Dysplasia

Symptoms & Phenotypes for Congenital Heart Defects and Ectodermal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Head And Neck Teeth:
widely spaced teeth
premature loss of primary teeth
small teeth

Head And Neck Nose:
depressed nasal bridge
prominent nasal bridge

Abdomen Gastrointestinal:
feeding difficulties

Skin Nails Hair Hair:
sparse scalp hair

Skeletal Hands:
syndactyly
broad thumbs
short digits

Head And Neck Head:
microcephaly, mild

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
global developmental delay
learning disability
delayed speech

Head And Neck Face:
prominent forehead

Skin Nails Hair Skin:
thin skin
dry skin

Skin Nails Hair Nails:
fragile nails

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
atrioventricular septal defects
pulmonary valve abnormality (in 1 patient)


Clinical features from OMIM:

617364

Human phenotypes related to Congenital Heart Defects and Ectodermal Dysplasia:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 prominent nasal bridge 32 HP:0000426
3 nystagmus 32 HP:0000639
4 widely spaced teeth 32 HP:0000687
5 microdontia 32 HP:0000691
6 delayed speech and language development 32 HP:0000750
7 dry skin 32 HP:0000958
8 thin skin 32 HP:0000963
9 syndactyly 32 HP:0001159
10 global developmental delay 32 HP:0001263
11 generalized hypotonia 32 HP:0001290
12 fragile nails 32 HP:0001808
13 sparse scalp hair 32 HP:0002209
14 scoliosis 32 HP:0002650
15 depressed nasal bridge 32 HP:0005280
16 premature loss of primary teeth 32 HP:0006323
17 prominent forehead 32 HP:0011220
18 broad thumb 32 HP:0011304
19 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Congenital Heart Defects and Ectodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects and Ectodermal Dysplasia

Genetic Tests for Congenital Heart Defects and Ectodermal Dysplasia

Anatomical Context for Congenital Heart Defects and Ectodermal Dysplasia

MalaCards organs/tissues related to Congenital Heart Defects and Ectodermal Dysplasia:

41
Heart, Skin

Publications for Congenital Heart Defects and Ectodermal Dysplasia

Variations for Congenital Heart Defects and Ectodermal Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects and Ectodermal Dysplasia:

75
# Symbol AA change Variation ID SNP ID
1 PRKD1 p.Leu299Trp VAR_078602
2 PRKD1 p.Gly592Arg VAR_078603

ClinVar genetic disease variations for Congenital Heart Defects and Ectodermal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKD1 NM_001330069.1(PRKD1): c.1798G> A (p.Gly600Arg) single nucleotide variant Pathogenic rs1057519635 GRCh38 Chromosome 14, 29626508: 29626508
2 PRKD1 NM_001330069.1(PRKD1): c.1798G> A (p.Gly600Arg) single nucleotide variant Pathogenic rs1057519635 GRCh37 Chromosome 14, 30095714: 30095714
3 PRKD1 NM_001330069.1(PRKD1): c.920T> G (p.Leu307Trp) single nucleotide variant Pathogenic rs1057519636 GRCh38 Chromosome 14, 29638705: 29638705
4 PRKD1 NM_001330069.1(PRKD1): c.920T> G (p.Leu307Trp) single nucleotide variant Pathogenic rs1057519636 GRCh37 Chromosome 14, 30107911: 30107911

Expression for Congenital Heart Defects and Ectodermal Dysplasia

Search GEO for disease gene expression data for Congenital Heart Defects and Ectodermal Dysplasia.

Pathways for Congenital Heart Defects and Ectodermal Dysplasia

GO Terms for Congenital Heart Defects and Ectodermal Dysplasia

Sources for Congenital Heart Defects and Ectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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