CHDFIDD
MCID: CNG501
MIFTS: 21

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 58 76 6
Chdfidd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

33
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 : 76 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 cdk13-related disorder and 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 agenesis of corpus callosum and microcephaly

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 cdk13-related disorder 11.1
2 heart disease 10.3

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

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

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 33 occasional (7.5%) HP:0001274
2 microcephaly 33 occasional (7.5%) HP:0000252
3 small cerebral cortex 33 occasional (7.5%) HP:0002472
4 hypertelorism 33 HP:0000316
5 clinodactyly 33 HP:0030084
6 ptosis 33 HP:0000508
7 intellectual disability 33 HP:0001249
8 global developmental delay 33 HP:0001263
9 wide nasal bridge 33 HP:0000431
10 delayed speech and language development 33 HP:0000750
11 feeding difficulties 33 HP:0011968
12 strabismus 33 HP:0000486
13 epicanthus 33 HP:0000286
14 atrial septal defect 33 HP:0001631
15 short philtrum 33 HP:0000322
16 joint hypermobility 33 HP:0001382
17 narrow mouth 33 HP:0000160
18 upslanted palpebral fissure 33 HP:0000582
19 ventricular septal defect 33 HP:0001629
20 thin upper lip vermilion 33 HP:0000219
21 generalized hypotonia 33 HP:0001290
22 posteriorly rotated ears 33 HP:0000358
23 camptodactyly 33 HP:0012385
24 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
short palpebral fissures
more
Skeletal Hands:
clinodactyly
camptodactyly
prominent fetal pads

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Face:
short philtrum

Skin Nails Hair Hair:
curly hair

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
intellectual disability
global developmental delay
seizures (in some patients)
agenesis of the corpus callosum (in some patients)
delayed walking
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)

Clinical features from OMIM:

617360

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:

42
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:

76
# 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 rs1554333853 GRCh37 Chromosome 7, 40085605: 40085605
12 CDK13 NM_003718.4(CDK13): c.2524A> G (p.Asn842Asp) single nucleotide variant Likely pathogenic rs1554333853 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
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
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46 MESH via Orphanet
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50 NCI
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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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