Aliases & Classifications for Rab18 Deficiency

MalaCards integrated aliases for Rab18 Deficiency:

Name: Rab18 Deficiency 24 25

Summaries for Rab18 Deficiency

Genetics Home Reference : 25 RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause.

MalaCards based summary : Rab18 Deficiency is related to warburg micro syndrome and martsolf syndrome. An important gene associated with Rab18 Deficiency is RAB18 (RAB18, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include brain and eye.

GeneReviews: NBK475670

Related Diseases for Rab18 Deficiency

Diseases related to Rab18 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 27.7 RAB18 RAB3GAP1 TBC1D20
2 martsolf syndrome 9.1 RAB18 RAB3GAP1
3 microcephaly 9.0 RAB3GAP1 TBC1D20
4 warburg micro syndrome 2 8.8 RAB18 RAB3GAP1 TBC1D20
5 warburg micro syndrome 1 8.8 RAB18 RAB3GAP1 TBC1D20
6 warburg micro syndrome 4 8.7 RAB18 RAB3GAP1 TBC1D20
7 spastic diplegia 8.7 RAB18 RAB3GAP1 TBC1D20

Graphical network of the top 20 diseases related to Rab18 Deficiency:



Diseases related to Rab18 Deficiency

Symptoms & Phenotypes for Rab18 Deficiency

Drugs & Therapeutics for Rab18 Deficiency

Search Clinical Trials , NIH Clinical Center for Rab18 Deficiency

Genetic Tests for Rab18 Deficiency

Anatomical Context for Rab18 Deficiency

MalaCards organs/tissues related to Rab18 Deficiency:

41
Brain, Eye

Publications for Rab18 Deficiency

Articles related to Rab18 Deficiency:

# Title Authors Year
1
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. ( 26063829 )
2015
2
RAB18 Deficiency ( 29300443 )
1993

Variations for Rab18 Deficiency

Expression for Rab18 Deficiency

Search GEO for disease gene expression data for Rab18 Deficiency.

Pathways for Rab18 Deficiency

Pathways related to Rab18 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 RAB18 RAB3GAP1 TBC1D20
2
Show member pathways
11.88 RAB18 RAB3GAP1
3 10.91 RAB18 RAB3GAP1
4 10.07 RAB18 RAB3GAP1

GO Terms for Rab18 Deficiency

Cellular components related to Rab18 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.13 RAB18 RAB3GAP1 TBC1D20
2 endoplasmic reticulum tubular network GO:0071782 8.62 RAB18 RAB3GAP1

Biological processes related to Rab18 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.26 RAB3GAP1 TBC1D20
2 brain development GO:0007420 9.16 RAB18 RAB3GAP1
3 camera-type eye development GO:0043010 8.96 RAB3GAP1 TBC1D20
4 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

Molecular functions related to Rab18 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.96 RAB3GAP1 TBC1D20
2 Rab GTPase binding GO:0017137 8.62 RAB3GAP1 TBC1D20

Sources for Rab18 Deficiency

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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