CHDFIDD
MCID: CNG501
MIFTS: 20

Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder (CHDFIDD)

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, also known as chdfidd, is related to heart disease. 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 hypertelorism and agenesis of corpus callosum

Description from OMIM: 617360

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

Diseases related to Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 heart disease 10.3

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 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
3 clinodactyly 32 HP:0030084
4 ptosis 32 HP:0000508
5 intellectual disability 32 HP:0001249
6 global developmental delay 32 HP:0001263
7 wide nasal bridge 32 HP:0000431
8 delayed speech and language development 32 HP:0000750
9 microcephaly 32 occasional (7.5%) HP:0000252
10 feeding difficulties 32 HP:0011968
11 strabismus 32 HP:0000486
12 epicanthus 32 HP:0000286
13 atrial septal defect 32 HP:0001631
14 short philtrum 32 HP:0000322
15 joint hypermobility 32 HP:0001382
16 narrow mouth 32 HP:0000160
17 upslanted palpebral fissure 32 HP:0000582
18 ventricular septal defect 32 HP:0001629
19 thin upper lip vermilion 32 HP:0000219
20 generalized hypotonia 32 HP:0001290
21 posteriorly rotated ears 32 HP:0000358
22 camptodactyly 32 HP:0012385
23 small cerebral cortex 32 occasional (7.5%) HP:0002472
24 delayed ability to walk 32 HP:0031936

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...

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 rs105751963
2 CDK13 p.Gly717Arg VAR_078599 rs105751963
3 CDK13 p.Arg751Gln VAR_078600 rs105751963
4 CDK13 p.Asn842Ser VAR_078601 rs878853160
5 CDK13 p.Lys734Glu VAR_079422 rs106479573
6 CDK13 p.Asn842Asp VAR_079423

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

6 (show all 14)
# 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_003718.4(CDK13): c.2252G> A (p.Arg751Gln) single nucleotide variant Pathogenic rs1057519634 GRCh37 Chromosome 7, 40041529: 40041529
8 CDK13 NM_003718.4(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
13 CDK13 NM_003718.4(CDK13): c.4097G> A (p.Arg1366His) single nucleotide variant Uncertain significance rs3801237 GRCh37 Chromosome 7, 40134137: 40134137
14 CDK13 NM_003718.4(CDK13): c.4097G> A (p.Arg1366His) single nucleotide variant Uncertain significance rs3801237 GRCh38 Chromosome 7, 40094538: 40094538

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...

3 CDC
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11 DGIdb
17 ExPASy
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33 ICD10
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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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