MCID: MLT170
MIFTS: 8

Multiple Congenital Anomalies/dysmorphic Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Multiple Congenital Anomalies/dysmorphic Syndrome

MalaCards integrated aliases for Multiple Congenital Anomalies/dysmorphic Syndrome:

Name: Multiple Congenital Anomalies/dysmorphic Syndrome 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA68341

Summaries for Multiple Congenital Anomalies/dysmorphic Syndrome

MalaCards based summary : Multiple Congenital Anomalies/dysmorphic Syndrome is related to multiple congenital anomalies/dysmorphic syndrome-intellectual disability and genetic multiple congenital anomalies/dysmorphic syndrome. An important gene associated with Multiple Congenital Anomalies/dysmorphic Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N).

Related Diseases for Multiple Congenital Anomalies/dysmorphic Syndrome

Diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 12.6
2 genetic multiple congenital anomalies/dysmorphic syndrome 12.5
3 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 12.5
4 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 12.5
5 lethal multiple congenital anomalies/dysmorphic syndrome 12.5
6 genetic lethal multiple congenital anomalies/dysmorphic syndrome 12.5
7 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 12.5
8 multiple congenital anomalies/dysmorphic syndrome without intellectual disability 12.5
9 acromegaloid facial appearance syndrome 11.3
10 microcephalic primordial dwarfism, montreal type 11.3
11 elsahy-waters syndrome 11.3
12 cleft-limb-heart malformation syndrome 11.3
13 genitopalatocardiac syndrome 11.3
14 macrosomia with microphthalmia, lethal 11.3
15 manitoba oculotrichoanal syndrome 11.3
16 mcdonough syndrome 11.3
17 subaortic stenosis--short stature syndrome 11.3
18 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.3
19 zechi-ceide syndrome 11.3
20 multiple congenital anomalies-hypotonia-seizures syndrome 11.3
21 arachnodactyly - intellectual disability - dysmorphism 11.3
22 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.3
23 cortical blindness-intellectual disability-polydactyly syndrome 11.3
24 epiphyseal dysplasia hearing loss dysmorphism 11.3
25 intellectual disability - athetosis - microphthalmia 11.3
26 kozlowski-krajewska syndrome 11.3
27 thakker-donnai syndrome 11.3

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome:



Diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome

Symptoms & Phenotypes for Multiple Congenital Anomalies/dysmorphic Syndrome

Drugs & Therapeutics for Multiple Congenital Anomalies/dysmorphic Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies/dysmorphic Syndrome

Genetic Tests for Multiple Congenital Anomalies/dysmorphic Syndrome

Anatomical Context for Multiple Congenital Anomalies/dysmorphic Syndrome

Publications for Multiple Congenital Anomalies/dysmorphic Syndrome

Variations for Multiple Congenital Anomalies/dysmorphic Syndrome

ClinVar genetic disease variations for Multiple Congenital Anomalies/dysmorphic Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGN NM_176787.5(PIGN):c.548_549+6deldeletion Pathogenic/Likely pathogenic 264637 rs779636222 18:59821772-59821779 18:62154539-62154546
2 PIGN NM_176787.5(PIGN):c.674+1G>ASNV Likely pathogenic 505688 rs1555694770 18:59815446-59815446 18:62148213-62148213

Expression for Multiple Congenital Anomalies/dysmorphic Syndrome

Search GEO for disease gene expression data for Multiple Congenital Anomalies/dysmorphic Syndrome.

Pathways for Multiple Congenital Anomalies/dysmorphic Syndrome

GO Terms for Multiple Congenital Anomalies/dysmorphic Syndrome

Sources for Multiple Congenital Anomalies/dysmorphic 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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