MCID: CRD215
MIFTS: 17

Cardioskeletal Syndrome, Kuwaiti Type

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cardioskeletal Syndrome, Kuwaiti Type

MalaCards integrated aliases for Cardioskeletal Syndrome, Kuwaiti Type:

Name: Cardioskeletal Syndrome, Kuwaiti Type 57
Heart Defects-Limb Shortening Syndrome 59
Cardioskeletal Syndrome Kuwaiti Type 53
Heart Defects and Limb Shortening 53

Characteristics:

Orphanet epidemiological data:

59
heart defects-limb shortening syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cardioskeletal syndrome, kuwaiti type:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212135
Orphanet 59 ORPHA1354
MESH via Orphanet 45 C535850
UMLS via Orphanet 74 C1859327
ICD10 via Orphanet 34 Q87.2
MedGen 42 C1859327

Summaries for Cardioskeletal Syndrome, Kuwaiti Type

MalaCards based summary : Cardioskeletal Syndrome, Kuwaiti Type, is also known as heart defects-limb shortening syndrome. Affiliated tissues include heart, and related phenotypes are kyphosis and abnormality of the metaphysis

Description from OMIM: 212135

Related Diseases for Cardioskeletal Syndrome, Kuwaiti Type

Symptoms & Phenotypes for Cardioskeletal Syndrome, Kuwaiti Type

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
congenital heart defect

Skel:
dysplasia
vertebral body coronal clefting

Limbs:
short


Clinical features from OMIM:

212135

Human phenotypes related to Cardioskeletal Syndrome, Kuwaiti Type:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
2 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
3 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
4 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
5 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
6 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
7 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
8 abnormality of the pulmonary artery 59 32 frequent (33%) Frequent (79-30%) HP:0004414
9 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
10 mesomelic/rhizomelic limb shortening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005026
11 skeletal dysplasia 32 HP:0002652
12 short stature 32 HP:0004322
13 death in infancy 59 Frequent (79-30%)
14 abnormality of the mitral valve 59 Frequent (79-30%)
15 abnormality of the tricuspid valve 59 Frequent (79-30%)
16 abnormality of cardiovascular system morphology 32 HP:0030680
17 disproportionate short stature 59 Very frequent (99-80%)
18 abnormal heart morphology 32 HP:0001627
19 abnormal mitral valve morphology 32 frequent (33%) HP:0001633
20 abnormal tricuspid valve morphology 32 frequent (33%) HP:0001702

Drugs & Therapeutics for Cardioskeletal Syndrome, Kuwaiti Type

Search Clinical Trials , NIH Clinical Center for Cardioskeletal Syndrome, Kuwaiti Type

Genetic Tests for Cardioskeletal Syndrome, Kuwaiti Type

Anatomical Context for Cardioskeletal Syndrome, Kuwaiti Type

MalaCards organs/tissues related to Cardioskeletal Syndrome, Kuwaiti Type:

41
Heart

Publications for Cardioskeletal Syndrome, Kuwaiti Type

Variations for Cardioskeletal Syndrome, Kuwaiti Type

Expression for Cardioskeletal Syndrome, Kuwaiti Type

Search GEO for disease gene expression data for Cardioskeletal Syndrome, Kuwaiti Type.

Pathways for Cardioskeletal Syndrome, Kuwaiti Type

GO Terms for Cardioskeletal Syndrome, Kuwaiti Type

Sources for Cardioskeletal Syndrome, Kuwaiti Type

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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