MCID: CNG501
MIFTS: 20

Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder

Categories: Genetic diseases

Aliases & Classifications for Congenital Heart Defects, Dysmorphic Facial Features, and...

MalaCards integrated aliases for Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

Name: Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 57 75 6
Chdfidd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
seven unrelated patients have been reported (last curated february 2017)


HPO:

32
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Dysmorphic Facial Features, and...

UniProtKB/Swiss-Prot : 75 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility.

MalaCards based summary : Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder, is also known as chdfidd. An important gene associated with Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder is CDK13 (Cyclin Dependent Kinase 13). Affiliated tissues include heart and cortex, and related phenotypes are narrow mouth and thin upper lip vermilion

Description from OMIM: 617360

Related Diseases for Congenital Heart Defects, Dysmorphic Facial Features, and...

Symptoms & Phenotypes for Congenital Heart Defects, Dysmorphic Facial Features, and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
upslanting palpebral fissures

Neurologic Central Nervous System:
intellectual disability
global developmental delay
agenesis of the corpus callosum (in some patients)
delayed walking
delayed speech acquisition
more
Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonary valve abnormalities

Skeletal:
joint hypermobility

Head And Neck Nose:
broad nasal bridge

Head And Neck Mouth:
small mouth
thin upper lip

Head And Neck Head:
microcephaly, mild (in some patients)

Skeletal Hands:
clinodactyly
camptodactyly

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Face:
short philtrum

Head And Neck Ears:
posteriorly rotated ears

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth


Clinical features from OMIM:

617360

Human phenotypes related to Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 32 HP:0000160
2 thin upper lip vermilion 32 HP:0000219
3 microcephaly 32 occasional (7.5%) HP:0000252
4 epicanthus 32 HP:0000286
5 hypertelorism 32 HP:0000316
6 short philtrum 32 HP:0000322
7 posteriorly rotated ears 32 HP:0000358
8 wide nasal bridge 32 HP:0000431
9 strabismus 32 HP:0000486
10 ptosis 32 HP:0000508
11 upslanted palpebral fissure 32 HP:0000582
12 delayed speech and language development 32 HP:0000750
13 intellectual disability 32 HP:0001249
14 global developmental delay 32 HP:0001263
15 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
16 generalized hypotonia 32 HP:0001290
17 joint hypermobility 32 HP:0001382
18 ventricular septal defect 32 HP:0001629
19 atrial septal defect 32 HP:0001631
20 small cerebral cortex 32 occasional (7.5%) HP:0002472
21 feeding difficulties 32 HP:0011968
22 camptodactyly 32 HP:0012385
23 clinodactyly 32 HP:0030084

Drugs & Therapeutics for Congenital Heart Defects, Dysmorphic Facial Features, and...

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder

Genetic Tests for Congenital Heart Defects, Dysmorphic Facial Features, and...

Anatomical Context for Congenital Heart Defects, Dysmorphic Facial Features, and...

MalaCards organs/tissues related to Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

41
Heart, Cortex

Publications for Congenital Heart Defects, Dysmorphic Facial Features, and...

Articles related to Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

# Title Authors Year
1
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. ( 28807008 )
2017

Variations for Congenital Heart Defects, Dysmorphic Facial Features, and...

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

75
# Symbol AA change Variation ID SNP ID
1 CDK13 p.Gly714Arg VAR_078598
2 CDK13 p.Gly717Arg VAR_078599
3 CDK13 p.Arg751Gln VAR_078600
4 CDK13 p.Asn842Ser VAR_078601 rs878853160
5 CDK13 p.Lys734Glu VAR_079422
6 CDK13 p.Asn842Asp VAR_079423

ClinVar genetic disease variations for Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK13 NM_003718.4(CDK13): c.2525A> G (p.Asn842Ser) single nucleotide variant Pathogenic rs878853160 GRCh37 Chromosome 7, 40085606: 40085606
2 CDK13 NM_003718.4(CDK13): c.2525A> G (p.Asn842Ser) single nucleotide variant Pathogenic rs878853160 GRCh38 Chromosome 7, 40046007: 40046007
3 CDK13 NM_003718.4(CDK13): c.2149G> A (p.Gly717Arg) single nucleotide variant Pathogenic rs1057519632 GRCh37 Chromosome 7, 40039066: 40039066
4 CDK13 NM_003718.4(CDK13): c.2149G> A (p.Gly717Arg) single nucleotide variant Pathogenic rs1057519632 GRCh38 Chromosome 7, 39999467: 39999467
5 CDK13 NM_031267.3(CDK13): c.2140G> C (p.Gly714Arg) single nucleotide variant Pathogenic rs1057519633 GRCh37 Chromosome 7, 40039057: 40039057
6 CDK13 NM_031267.3(CDK13): c.2140G> C (p.Gly714Arg) single nucleotide variant Pathogenic rs1057519633 GRCh38 Chromosome 7, 39999458: 39999458
7 CDK13 NM_031267.3(CDK13): c.2252G> A (p.Arg751Gln) single nucleotide variant Pathogenic rs1057519634 GRCh37 Chromosome 7, 40041529: 40041529
8 CDK13 NM_031267.3(CDK13): c.2252G> A (p.Arg751Gln) single nucleotide variant Pathogenic rs1057519634 GRCh38 Chromosome 7, 40001930: 40001930
9 CDK13 CDK13, ASN842ASP undetermined variant Pathogenic
10 CDK13 CDK13, VAL874LEU undetermined variant Pathogenic
11 CDK13 NM_003718.4(CDK13): c.2524A> G (p.Asn842Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 40085605: 40085605
12 CDK13 NM_003718.4(CDK13): c.2524A> G (p.Asn842Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 40046006: 40046006

Expression for Congenital Heart Defects, Dysmorphic Facial Features, and...

Search GEO for disease gene expression data for Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder.

Pathways for Congenital Heart Defects, Dysmorphic Facial Features, and...

GO Terms for Congenital Heart Defects, Dysmorphic Facial Features, and...

Sources for Congenital Heart Defects, Dysmorphic Facial Features, and...

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70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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