CHDSKM
MCID: CNG502
MIFTS: 21

Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM)

Categories: Bone diseases, Genetic 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 56 73 6
Chdskm 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
no malignancies detected in patients with germline mutations


HPO:

31
congenital heart defects and skeletal malformations syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects and Skeletal Malformations Syndrome

OMIM : 56 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, and related phenotypes are global developmental delay and cryptorchidism

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Congenital Heart Defects and Skeletal Malformations Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 cryptorchidism 31 very rare (1%) HP:0000028
3 intrauterine growth retardation 31 very rare (1%) HP:0001511
4 coarctation of aorta 31 very rare (1%) HP:0001680
5 arachnodactyly 31 very rare (1%) HP:0001166
6 anal atresia 31 very rare (1%) HP:0002023
7 intestinal malrotation 31 very rare (1%) HP:0002566
8 pectus excavatum 31 HP:0000767
9 high palate 31 HP:0000218
10 failure to thrive 31 HP:0001508
11 constipation 31 HP:0002019
12 scoliosis 31 HP:0002650
13 carious teeth 31 HP:0000670
14 pes planus 31 HP:0001763
15 short nose 31 HP:0003196
16 short stature 31 HP:0004322
17 ventricular septal defect 31 HP:0001629
18 thin skin 31 HP:0000963
19 atrial septal defect 31 HP:0001631
20 broad forehead 31 HP:0000337
21 hypospadias 31 HP:0000047
22 deeply set eye 31 HP:0000490
23 short chin 31 HP:0000331
24 dental crowding 31 HP:0000678
25 pointed chin 31 HP:0000307
26 congenital diaphragmatic hernia 31 HP:0000776
27 long nose 31 HP:0003189
28 cutis marmorata 31 HP:0000965
29 finger clinodactyly 31 HP:0040019
30 camptodactyly 31 HP:0012385
31 pneumothorax 31 HP:0002107
32 narrow nose 31 HP:0000460
33 soft skin 31 HP:0000977
34 narrow maxilla 31 HP:0002010

Symptoms via clinical synopsis from OMIM:

56
Chest External Features:
pectus excavatum

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

Skeletal Feet:
pes planus

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

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

Genitourinary Internal Genitalia Male:
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

Skin Nails Hair Skin:
thin skin
cutis marmorata
velvety skin

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:

40
Heart, Skin, Eye

Publications for Congenital Heart Defects and Skeletal Malformations Syndrome

Articles related to Congenital Heart Defects and Skeletal Malformations Syndrome:

# Title Authors PMID Year
1
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 56 6
28288113 2017

Variations for Congenital Heart Defects and Skeletal Malformations Syndrome

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABL1 NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr)SNV Pathogenic 374794 rs1060499548 9:133748348-133748348 9:130872961-130872961
2 ABL1 NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)SNV Pathogenic 374795 rs1060499547 9:133738277-133738277 9:130862890-130862890

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

73
# Symbol AA change Variation ID SNP ID
1 ABL1 p.Tyr226Cys VAR_079482 rs106049954
2 ABL1 p.Ala337Thr VAR_079483 rs106049954

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 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
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