MCID: CNG502
MIFTS: 17

Congenital Heart Defects and Skeletal Malformations Syndrome

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Congenital Heart Defects and Skeletal Malformations Syndrome

MalaCards integrated aliases for Congenital Heart Defects and Skeletal Malformations Syndrome:

Name: Congenital Heart Defects and Skeletal Malformations Syndrome 57 75 6
Chdskm 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
no malignancies detected in patients with germline mutations


Classifications:



External Ids:

OMIM 57 617602

Summaries for Congenital Heart Defects and Skeletal Malformations Syndrome

OMIM : 57 Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017). (617602)

MalaCards based summary : Congenital Heart Defects and Skeletal Malformations Syndrome, is also known as chdskm. An important gene associated with Congenital Heart Defects and Skeletal Malformations Syndrome is ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase). Affiliated tissues include heart, skin and eye.

UniProtKB/Swiss-Prot : 75 Congenital heart defects and skeletal malformations syndrome: An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity.

Related Diseases for Congenital Heart Defects and Skeletal Malformations Syndrome

Symptoms & Phenotypes for Congenital Heart Defects and Skeletal Malformations Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Abdomen Gastrointestinal:
constipation
imperforate anus (1 patient)
rectosigmoid dysmotility (1 patient)
intestinal malrotation (1 patient)

Skeletal Feet:
pes planus

Skin Nails Hair Skin:
thin skin
cutis marmorata
velvety skin

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Mouth:
high-arched palate

Cardiovascular Vascular:
aortic root dilation
coarctation of the aorta, mild (1 patient)

Respiratory Lung:
pneumothorax, recurrent

GenitourinaryInternal GenitaliaMale:
cryptorchidism (1 patient)

Head And Neck Eyes:
deep-set eyes (in younger children)

Skeletal Limbs:
joint hyperextensibility/laxity

Growth Other:
failure to thrive
intrauterine growth retardation (in some patients)

Skeletal Spine:
scoliosis

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Head And Neck Teeth:
dental crowding
dental caries

Skeletal Hands:
finger contractures
fifth-finger clinodactyly
fifth-finger camptodactyly
arachnodactyly (1 patient)

Chest Diaphragm:
diaphragmatic hernia

Neurologic Central Nervous System:
developmental delay (in some patients)

Head And Neck Face:
broad forehead (in younger children)
small chin (in younger children)
elongated face (in adults)
narrow maxilla (in adults)
pointed chin (in adults)

Head And Neck Nose:
small nose (in younger children)
long nose (in adults)
narrow nose (in adults)


Clinical features from OMIM:

617602

Drugs & Therapeutics for Congenital Heart Defects and Skeletal Malformations Syndrome

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects and Skeletal Malformations Syndrome

Genetic Tests for Congenital Heart Defects and Skeletal Malformations Syndrome

Anatomical Context for Congenital Heart Defects and Skeletal Malformations Syndrome

MalaCards organs/tissues related to Congenital Heart Defects and Skeletal Malformations Syndrome:

41
Heart, Skin, Eye

Publications for Congenital Heart Defects and Skeletal Malformations Syndrome

Variations for Congenital Heart Defects and Skeletal Malformations Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects and Skeletal Malformations Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 ABL1 p.Tyr226Cys VAR_079482
2 ABL1 p.Ala337Thr VAR_079483

ClinVar genetic disease variations for Congenital Heart Defects and Skeletal Malformations Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABL1 NM_007313.2(ABL1): c.1066G> A (p.Ala356Thr) single nucleotide variant Pathogenic rs1060499548 GRCh38 Chromosome 9, 130872961: 130872961
2 ABL1 NM_007313.2(ABL1): c.1066G> A (p.Ala356Thr) single nucleotide variant Pathogenic rs1060499548 GRCh37 Chromosome 9, 133748348: 133748348
3 ABL1 NM_007313.2(ABL1): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs1060499547 GRCh37 Chromosome 9, 133738277: 133738277
4 ABL1 NM_007313.2(ABL1): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs1060499547 GRCh38 Chromosome 9, 130862890: 130862890

Expression for Congenital Heart Defects and Skeletal Malformations Syndrome

Search GEO for disease gene expression data for Congenital Heart Defects and Skeletal Malformations Syndrome.

Pathways for Congenital Heart Defects and Skeletal Malformations Syndrome

GO Terms for Congenital Heart Defects and Skeletal Malformations Syndrome

Sources for Congenital Heart Defects and Skeletal Malformations Syndrome

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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