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 53 72
Kousseff Syndrome 53 59
Sacral Meningocele, Conotruncal Heart Defects, and Minor Anomalies of Head and Neck 53
Sacral Meningocele-Conotruncal Heart Defects Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
kousseff syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2931444
Orphanet 59 ORPHA2351
UMLS 72 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 14)
# 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 congenital hydrocephalus 10.2
10 tetralogy of fallot 10.1
11 renal hypodysplasia/aplasia 1 10.1
12 meningocele 10.1
13 microcephaly 10.1
14 transposition of the great arteries 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:

41
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. 38
22380655 2012
2
Kousseff syndrome: a causally heterogeneous disorder. 38
14708106 2004
3
Kousseff syndrome caused by deletion of chromosome 22q11-13. 38
12376934 2002
4
Microdeletion 22q11.2, Kousseff syndrome and spina bifida. 38
12002140 2002
5
Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome). 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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