MCID: CRD215
MIFTS: 17

Cardioskeletal Syndrome, Kuwaiti Type

Categories: Bone diseases, 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 58
Heart Defects-Limb Shortening Syndrome 60
Cardioskeletal Syndrome Kuwaiti Type 54
Heart Defects and Limb Shortening 54

Characteristics:

Orphanet epidemiological data:

60
heart defects-limb shortening syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cardioskeletal syndrome, kuwaiti type:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 212135
MESH via Orphanet 46 C535850
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C1859327
Orphanet 60 ORPHA1354
MedGen 43 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 bone, and related phenotypes are abnormality of the metaphysis and narrow chest

Description from OMIM: 212135

Related Diseases for Cardioskeletal Syndrome, Kuwaiti Type

Symptoms & Phenotypes for Cardioskeletal Syndrome, Kuwaiti Type

Human phenotypes related to Cardioskeletal Syndrome, Kuwaiti Type:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
2 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
3 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
4 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
5 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
6 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
7 mesomelic/rhizomelic limb shortening 60 33 hallmark (90%) Very frequent (99-80%) HP:0005026
8 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
9 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
10 abnormal mitral valve morphology 60 33 frequent (33%) Frequent (79-30%) HP:0001633
11 abnormality of the pulmonary artery 60 33 frequent (33%) Frequent (79-30%) HP:0004414
12 abnormal tricuspid valve morphology 33 frequent (33%) HP:0001702
13 skeletal dysplasia 33 HP:0002652
14 short stature 33 HP:0004322
15 death in infancy 60 Frequent (79-30%)
16 abnormality of the tricuspid valve 60 Frequent (79-30%)
17 abnormality of cardiovascular system morphology 33 HP:0030680
18 disproportionate short stature 60 Very frequent (99-80%)
19 abnormal heart morphology 33 HP:0001627

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
congenital heart defect

Skel:
dysplasia
vertebral body coronal clefting

Limbs:
short

Clinical features from OMIM:

212135

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:

42
Heart, Bone

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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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