WARBM3
MCID: WRB004
MIFTS: 41

Warburg Micro Syndrome 3 (WARBM3)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Warburg Micro Syndrome 3

Summaries for Warburg Micro Syndrome 3

OMIM : 56 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). For a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118. (614222)

MalaCards based summary : Warburg Micro Syndrome 3, also known as micro syndrome 3, is related to martsolf syndrome and rab18 deficiency, and has symptoms including seizures An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include testes, cortex and eye, and related phenotypes are seizures and nystagmus

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.

UniProtKB/Swiss-Prot : 73 Warburg micro syndrome 3: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.

Related Diseases for Warburg Micro Syndrome 3

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 3:



Diseases related to Warburg Micro Syndrome 3

Symptoms & Phenotypes for Warburg Micro Syndrome 3

Human phenotypes related to Warburg Micro Syndrome 3:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 nystagmus 31 HP:0000639
3 narrow palate 31 HP:0000189
4 macrotia 31 HP:0000400
5 short nose 31 HP:0003196
6 micrognathia 31 HP:0000347
7 cerebral cortical atrophy 31 HP:0002120
8 optic atrophy 31 HP:0000648
9 flexion contracture 31 HP:0001371
10 decreased muscle mass 31 HP:0003199
11 brachycephaly 31 HP:0000248
12 spastic tetraplegia 31 HP:0002510
13 wide intermamillary distance 31 HP:0006610
14 postnatal growth retardation 31 HP:0008897
15 ventriculomegaly 31 HP:0002119
16 kyphoscoliosis 31 HP:0002751
17 microphthalmia 31 HP:0000568
18 clinodactyly of the 5th finger 31 HP:0004209
19 decreased testicular size 31 HP:0008734
20 micropenis 31 HP:0000054
21 downturned corners of mouth 31 HP:0002714
22 developmental cataract 31 HP:0000519
23 scrotal hypoplasia 31 HP:0000046
24 hypoplastic labia minora 31 HP:0000064
25 low anterior hairline 31 HP:0000294
26 blepharophimosis 31 HP:0000581
27 hypoplasia of the corpus callosum 31 HP:0002079
28 microcornea 31 HP:0000482
29 polymicrogyria 31 HP:0002126
30 ankle clonus 31 HP:0011448
31 hypertrichosis 31 HP:0000998
32 intellectual disability, profound 31 HP:0002187
33 postnatal microcephaly 31 HP:0005484
34 muscular hypotonia of the trunk 31 HP:0008936
35 shallow anterior chamber 31 HP:0000594

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
polymicrogyria
enlarged ventricles
hypoplastic corpus callosum
cortical atrophy
more
Head And Neck Mouth:
narrow palate
downturned corners of mouth

Head And Neck Face:
micrognathia
short prominent overhanging philtrum

Growth Height:
postnatal growth retardation

Skin Nails Hair Hair:
low anterior hairline
centrally placed hair whorl
hypertrichosis of upper back

Chest Breasts:
widely spaced nipples

Head And Neck Ears:
large ears

Skeletal Hands:
flexion contractures of fingers
cortical thumbs
bilateral fifth finger clinodactyly

Head And Neck Teeth:
prominent secondary alveolar ridges

Skeletal Limbs:
distal limb contractures

Muscle Soft Tissue:
decreased muscle mass, especially distally

Head And Neck Eyes:
nystagmus
microphthalmia
microcornea
shallow anterior chamber
cataract, congenital
more
Head And Neck Nose:
short nose
prominent root of nose

Head And Neck Head:
brachycephaly
postnatal microcephaly

Skeletal Spine:
kyphoscoliosis

Neurologic Peripheral Nervous System:
ankle clonus
increased deep tendon responses of lower extremities

Skeletal Skull:
microcephaly, postnatal

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

Genitourinary Internal Genitalia Male:
small testes
retractile testes
soft testes

Genitourinary External Genitalia Female:
fused, hypoplastic labia minora

Skeletal Feet:
externally rotated feet in valgus position

Clinical features from OMIM:

614222

UMLS symptoms related to Warburg Micro Syndrome 3:


seizures

MGI Mouse Phenotypes related to Warburg Micro Syndrome 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 EXO1 GSK3B HACD1 PRNP RAB2A RAB3A
2 nervous system MP:0003631 9.65 GSK3B PRNP RAB18 RAB3A RAB3D RAB3GAP1
3 vision/eye MP:0005391 9.17 PRNP RAB18 RAB3GAP2 STK38L TBC1D1 TBC1D20

Drugs & Therapeutics for Warburg Micro Syndrome 3

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 3

Genetic Tests for Warburg Micro Syndrome 3

Genetic tests related to Warburg Micro Syndrome 3:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 3 29 RAB18

Anatomical Context for Warburg Micro Syndrome 3

MalaCards organs/tissues related to Warburg Micro Syndrome 3:

40
Testes, Cortex, Eye

Publications for Warburg Micro Syndrome 3

Articles related to Warburg Micro Syndrome 3:

# Title Authors PMID Year
1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 56 6
23420520 2013
2
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 56 6
21473985 2011
3
MICRO syndrome: an entity distinct from COFS syndrome. 56 6
15216543 2004
4
RAB18 Deficiency 6
29300443 2018
5
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 56
20512159 2010
6
Micro syndrome in Muslim Pakistan children. 56
11237903 2001

Variations for Warburg Micro Syndrome 3

ClinVar genetic disease variations for Warburg Micro Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB18 NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)SNV Pathogenic 30247 rs387906832 10:27798806-27798806 10:27509877-27509877
2 RAB18 RAB18, EX2DELdeletion Pathogenic 30248
3 RAB18 NM_021252.5(RAB18):c.274_276AGA[1] (p.Arg93del)short repeat Pathogenic 30249 rs587776875 10:27822677-27822679 10:27533748-27533750
4 RAB18 NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)SNV Pathogenic 30250 rs387906833 10:27826978-27826978 10:27538049-27538049
5 RAB18 NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)SNV Pathogenic 100768 rs587777151 10:27822688-27822688 10:27533759-27533759

UniProtKB/Swiss-Prot genetic disease variations for Warburg Micro Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 RAB18 p.Leu24Gln VAR_066495 rs387906832

Expression for Warburg Micro Syndrome 3

Search GEO for disease gene expression data for Warburg Micro Syndrome 3.

Pathways for Warburg Micro Syndrome 3

Pathways related to Warburg Micro Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 RAB3A RAB18
2
Show member pathways
12.5 RAB3D RAB3A RAB2A RAB18 GSK3B
3 11.21 RAB3GAP2 RAB3GAP1 RAB3A RAB18
4 10.78 RAB3GAP2 RAB3GAP1 RAB18
5 10.74 RAB3D RAB3A RAB2A RAB18

GO Terms for Warburg Micro Syndrome 3

Cellular components related to Warburg Micro Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynapse GO:0098794 9.33 RAB3GAP1 PRNP GSK3B
2 endoplasmic reticulum membrane GO:0005789 9.17 TYRO3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
3 endoplasmic reticulum tubular network GO:0071782 8.96 RAB3GAP1 RAB18

Biological processes related to Warburg Micro Syndrome 3 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.72 TBC1D20 RAB3GAP2 RAB3GAP1 GSK3B AGFG1
2 regulation of exocytosis GO:0017157 9.54 RAB3D RAB3A
3 vesicle docking involved in exocytosis GO:0006904 9.52 RAB3D RAB3A
4 negative regulation of calcineurin-NFAT signaling cascade GO:0070885 9.51 PRNP GSK3B
5 acrosome assembly GO:0001675 9.49 TBC1D20 AGFG1
6 regulation of short-term neuronal synaptic plasticity GO:0048172 9.48 RAB3GAP1 RAB3A
7 positive regulation of autophagosome assembly GO:2000786 9.46 RAB3GAP2 RAB3GAP1
8 positive regulation of regulated secretory pathway GO:1903307 9.43 RAB3D RAB3A
9 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.4 RAB3GAP2 RAB3GAP1
10 positive regulation of protein lipidation GO:1903061 9.37 RAB3GAP2 RAB3GAP1
11 lipid droplet organization GO:0034389 9.33 TBC1D20 RAB3GAP1 RAB18
12 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.26 RAB3GAP2 RAB3GAP1
13 Rab protein signal transduction GO:0032482 9.26 RAB3D RAB3A RAB2A RAB18
14 intracellular protein transport GO:0006886 9.1 TBC1D1 RAB3GAP2 RAB3D RAB3A RAB2A RAB18

Molecular functions related to Warburg Micro Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.62 RAB3D RAB3A RAB2A RAB18
2 GTPase activity GO:0003924 9.46 RAB3D RAB3A RAB2A RAB18
3 GTP-dependent protein binding GO:0030742 9.37 RAB3D RAB3A
4 myosin V binding GO:0031489 9.26 RAB3D RAB3A
5 Rab GTPase binding GO:0017137 9.26 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1
6 GTPase activator activity GO:0005096 9.02 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 AGFG1

Sources for Warburg Micro Syndrome 3

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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