CHDFIDD
MCID: CNG501
MIFTS: 25

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 56 73 29 6
Chdfidd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
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 : 73 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 triiodothyronine receptor auxiliary protein. 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

More information 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 11.8
2 triiodothyronine receptor auxiliary protein 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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
2 microcephaly 31 occasional (7.5%) HP:0000252
3 small cerebral cortex 31 occasional (7.5%) HP:0002472
4 seizures 31 very rare (1%) HP:0001250
5 hypertelorism 31 HP:0000316
6 low-set ears 31 HP:0000369
7 clinodactyly 31 HP:0030084
8 intellectual disability 31 HP:0001249
9 ptosis 31 HP:0000508
10 global developmental delay 31 HP:0001263
11 wide nasal bridge 31 HP:0000431
12 delayed speech and language development 31 HP:0000750
13 feeding difficulties 31 HP:0011968
14 ventricular septal defect 31 HP:0001629
15 short philtrum 31 HP:0000322
16 generalized hypotonia 31 HP:0001290
17 strabismus 31 HP:0000486
18 epicanthus 31 HP:0000286
19 narrow mouth 31 HP:0000160
20 atrial septal defect 31 HP:0001631
21 thin upper lip vermilion 31 HP:0000219
22 posteriorly rotated ears 31 HP:0000358
23 upslanted palpebral fissure 31 HP:0000582
24 joint hypermobility 31 HP:0001382
25 curly hair 31 HP:0002212
26 hypoplasia of the corpus callosum 31 HP:0002079
27 camptodactyly 31 HP:0012385
28 short palpebral fissure 31 HP:0012745
29 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
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

Head And Neck Nose:
broad nasal bridge

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:
ventricular septal defect
atrial septal defect
pulmonary valve abnormalities

Skeletal:
joint hypermobility

Head And Neck Mouth:
thin upper lip
small mouth

Muscle Soft Tissue:
hypotonia

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...

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

# Genetic test Affiliating Genes
1 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 29 CDK13

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:

40
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 PMID Year
1
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 56 6
29021403 2018
2
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 56 6
27479907 2016
3
CDK13-Related Disorder 6
30702837 2019
4
Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13. 61
31440507 2019

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

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

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDK13 NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)SNV Pathogenic 375737 rs1057519632 7:40039066-40039066 7:39999467-39999467
2 CDK13 NM_003718.5(CDK13):c.2140G>C (p.Gly714Arg)SNV Pathogenic 375738 rs1057519633 7:40039057-40039057 7:39999458-39999458
3 CDK13 NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)SNV Pathogenic 375739 rs1057519634 7:40041529-40041529 7:40001930-40001930
4 CDK13 CDK13, ASN842ASPundetermined variant Pathogenic 488421
5 CDK13 CDK13, VAL874LEUundetermined variant Pathogenic 488422
6 CDK13 NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)SNV Pathogenic/Likely pathogenic 235887 rs878853160 7:40085606-40085606 7:40046007-40046007
7 CDK13 NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)SNV Likely pathogenic 522794 rs1554333853 7:40085605-40085605 7:40046006-40046006
8 CDK13 NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu)SNV Likely pathogenic 625525 rs1562722163 7:40041523-40041523 7:40001924-40001924
9 CDK13 NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu)SNV Likely pathogenic 689751 7:40087446-40087446 7:40047847-40047847
10 CDK13 NM_003718.5(CDK13):c.806del (p.Ser269fs)deletion Likely pathogenic 800796 7:39991046-39991046 7:39951447-39951447
11 CDK13 NM_003718.5(CDK13):c.181del (p.Leu61fs)deletion Conflicting interpretations of pathogenicity 521173 rs1554317002 7:39990420-39990420 7:39950821-39950821
12 CDK13 NM_003718.5(CDK13):c.4097G>A (p.Arg1366His)SNV Uncertain significance 545696 rs3801237 7:40134137-40134137 7:40094538-40094538
13 CDK13 NM_003718.5(CDK13):c.484dup (p.Ala162fs)duplication Uncertain significance 504021 rs1405252481 7:39990716-39990717 7:39951117-39951118

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

73
# 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 rs155433385

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....