MCID: SCR022
MIFTS: 15

Sacral Meningocele Conotruncal Heart Defects

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sacral Meningocele Conotruncal Heart Defects

MalaCards integrated aliases for Sacral Meningocele Conotruncal Heart Defects:

Name: Sacral Meningocele Conotruncal Heart Defects 52 71
Kousseff Syndrome 52 58
Sacral Meningocele, Conotruncal Heart Defects, and Minor Anomalies of Head and Neck 52
Sacral Meningocele-Conotruncal Heart Defects Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
kousseff syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2931444
Orphanet 58 ORPHA2351
UMLS 71 C2931444

Summaries for Sacral Meningocele Conotruncal Heart Defects

MalaCards based summary : Sacral Meningocele Conotruncal Heart Defects, also known as kousseff syndrome, is related to digeorge syndrome and velocardiofacial syndrome. Affiliated tissues include heart and thymus.

Related Diseases for Sacral Meningocele Conotruncal Heart Defects

Diseases related to Sacral Meningocele Conotruncal Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 10.4
2 velocardiofacial syndrome 10.3
3 myelomeningocele 10.3
4 cleft palate, isolated 10.2
5 neural tube defects 10.2
6 hydrocephalus 10.2
7 ventricular septal defect 10.2
8 heart septal defect 10.2
9 tetralogy of fallot 10.1
10 renal hypodysplasia/aplasia 1 10.1
11 meningocele 10.1
12 microcephaly 10.1

Graphical network of the top 20 diseases related to Sacral Meningocele Conotruncal Heart Defects:



Diseases related to Sacral Meningocele Conotruncal Heart Defects

Symptoms & Phenotypes for Sacral Meningocele Conotruncal Heart Defects

Drugs & Therapeutics for Sacral Meningocele Conotruncal Heart Defects

Search Clinical Trials , NIH Clinical Center for Sacral Meningocele Conotruncal Heart Defects

Genetic Tests for Sacral Meningocele Conotruncal Heart Defects

Anatomical Context for Sacral Meningocele Conotruncal Heart Defects

MalaCards organs/tissues related to Sacral Meningocele Conotruncal Heart Defects:

40
Heart, Thymus

Publications for Sacral Meningocele Conotruncal Heart Defects

Articles related to Sacral Meningocele Conotruncal Heart Defects:

# Title Authors PMID Year
1
Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome. 61
22380655 2012
2
Kousseff syndrome: a causally heterogeneous disorder. 61
14708106 2004
3
Kousseff syndrome caused by deletion of chromosome 22q11-13. 61
12376934 2002
4
Microdeletion 22q11.2, Kousseff syndrome and spina bifida. 61
12002140 2002
5
Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome). 61
4050868 1985

Variations for Sacral Meningocele Conotruncal Heart Defects

Expression for Sacral Meningocele Conotruncal Heart Defects

Search GEO for disease gene expression data for Sacral Meningocele Conotruncal Heart Defects.

Pathways for Sacral Meningocele Conotruncal Heart Defects

GO Terms for Sacral Meningocele Conotruncal Heart Defects

Sources for Sacral Meningocele Conotruncal Heart Defects

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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