MCID: WRB002
MIFTS: 41

Warburg Micro Syndrome 1

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

Aliases & Classifications for Warburg Micro Syndrome 1

MalaCards integrated aliases for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 54 12 24 71 29 13 14
Warbm1 12 71
Warburg Sjo Fledelius Syndrome 69
Micro Syndrome 1 12
Micro Syndrome 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 1

OMIM : 54
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). (600118)

MalaCards based summary : Warburg Micro Syndrome 1, also known as warbm1, is related to warburg micro syndrome and polyneuropathy, and has symptoms including congenital cataract, short stature and failure to thrive. An important gene associated with Warburg Micro Syndrome 1 is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include eye, bone and kidney.

UniProtKB/Swiss-Prot : 71 Warburg micro syndrome 1: 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.

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.

Related Diseases for Warburg Micro Syndrome 1

Diseases in the Warburg Micro Syndrome family:

Warburg Micro Syndrome 2 Warburg Micro Syndrome 1
Warburg Micro Syndrome 3 Warburg Micro Syndrome 4

Diseases related to Warburg Micro Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 10.0
2 polyneuropathy 9.8
3 neuronitis 9.8
4 null-cell leukemia 9.6 RAB3GAP1 RAB3GAP2
5 martsolf syndrome 9.2 RAB18 RAB3GAP1 RAB3GAP2
6 neurodegeneration with brain iron accumulation 1 8.9 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
7 spastic hemiplegia 8.9 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
8 uv-sensitive syndrome 8.8 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 1:



Diseases related to Warburg Micro Syndrome 1

Symptoms & Phenotypes for Warburg Micro Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
congenital cataract
optic atrophy
ptosis
microphthalmia
microcornea
more
Neurologic- Central Nervous System:
hypotonia
mental retardation
hyperreflexia
cerebral atrophy
cerebellar hypoplasia
more
Head And Neck- Face:
micrognathia

Skin Nails & Hair- Hair:
facial hypertrichosis

Skeletal:
osteoporosis

Genitourinary- External Genitalia Male:
hypogenitalism

Skeletal- Hands:
joint hypermobility (rare)

Skeletal- Feet:
deformities of metatarsal bones (rare)
overlapping toes (rare)

Growth- Height:
short stature

Head And Neck- Head:
microcephaly

Head And Neck- Ears:
large ears

Skeletal- Spine:
kyphoscoliosis

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Other:
postnatal failure to thrive

Skeletal- Limbs:
joint hypermobility (rare)


Clinical features from OMIM:

600118

Human phenotypes related to Warburg Micro Syndrome 1:

32 (show top 50) (show all 58)
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 short stature 32 hallmark (90%) HP:0004322
3 failure to thrive 32 HP:0001508
4 scoliosis 32 frequent (33%) HP:0002650
5 optic atrophy 32 hallmark (90%) HP:0000648
6 intellectual disability, severe 32 hallmark (90%) HP:0010864
7 hyperreflexia 32 HP:0001347
8 spasticity 32 hallmark (90%) HP:0001257
9 cerebral atrophy 32 HP:0002059
10 seizures 32 occasional (7.5%) HP:0001250
11 ptosis 32 HP:0000508
12 microcephaly 32 hallmark (90%) HP:0000252
13 micrognathia 32 frequent (33%) HP:0000347
14 peripheral neuropathy 32 occasional (7.5%) HP:0009830
15 kyphosis 32 frequent (33%) HP:0002808
16 facial hypertrichosis 32 HP:0002219
17 intrauterine growth retardation 32 frequent (33%) HP:0001511
18 kyphoscoliosis 32 HP:0002751
19 microphthalmia 32 hallmark (90%) HP:0000568
20 cerebellar hypoplasia 32 HP:0001321
21 pachygyria 32 hallmark (90%) HP:0001302
22 short nose 32 hallmark (90%) HP:0003196
23 anteverted nares 32 hallmark (90%) HP:0000463
24 osteoporosis 32 HP:0000939
25 global developmental delay 32 hallmark (90%) HP:0001263
26 hydronephrosis 32 occasional (7.5%) HP:0000126
27 microcornea 32 hallmark (90%) HP:0000482
28 hypoplastic labia minora 32 frequent (33%) HP:0000064
29 cryptorchidism 32 hallmark (90%) HP:0000028
30 short philtrum 32 hallmark (90%) HP:0000322
31 cortical visual impairment 32 hallmark (90%) HP:0100704
32 intellectual disability 32 HP:0001249
33 hypoplasia of the corpus callosum 32 HP:0002079
34 cataract 32 hallmark (90%) HP:0000518
35 joint hypermobility 32 occasional (7.5%) HP:0001382
36 agenesis of corpus callosum 32 HP:0001274
37 cerebral cortical atrophy 32 frequent (33%) HP:0002120
38 delayed puberty 32 hallmark (90%) HP:0000823
39 wide nasal bridge 32 hallmark (90%) HP:0000431
40 lissencephaly 32 hallmark (90%) HP:0001339
41 joint stiffness 32 hallmark (90%) HP:0001387
42 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
43 high palate 32 hallmark (90%) HP:0000218
44 muscular hypotonia 32 hallmark (90%) HP:0001252
45 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
46 spastic diplegia 32 HP:0001264
47 retinal coloboma 32 occasional (7.5%) HP:0000480
48 generalized hirsutism 32 frequent (33%) HP:0002230
49 macrotia 32 frequent (33%) HP:0000400
50 clitoral hypoplasia 32 frequent (33%) HP:0000060

Drugs & Therapeutics for Warburg Micro Syndrome 1

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 1

Genetic Tests for Warburg Micro Syndrome 1

Genetic tests related to Warburg Micro Syndrome 1:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 1 29 24 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

MalaCards organs/tissues related to Warburg Micro Syndrome 1:

39
Eye, Bone, Kidney

Publications for Warburg Micro Syndrome 1

Articles related to Warburg Micro Syndrome 1:

id Title Authors Year
1
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
2
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. ( 25332050 )
2014

Variations for Warburg Micro Syndrome 1

ClinVar genetic disease variations for Warburg Micro Syndrome 1:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh37 Chromosome 2, 135926206: 135926206
2 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh37 Chromosome 2, 135878387: 135878387
3 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh37 Chromosome 2, 135878489: 135878489
4 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh37 Chromosome 2, 135908026: 135908026
5 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh37 Chromosome 2, 135893313: 135893313
6 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh37 Chromosome 2, 135891514: 135891514
7 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh37 Chromosome 2, 135848681: 135848687
8 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh37 Chromosome 2, 135883820: 135883820
9 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh37 Chromosome 2, 135908052: 135908070
10 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh37 Chromosome 2, 135810033: 135810033
11 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh37 Chromosome 2, 135810052: 135810052
12 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs) deletion Pathogenic rs794727324 GRCh38 Chromosome 2, 135162608: 135162612
13 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh38 Chromosome 2, 135164629: 135164629
14 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.612delC (p.Leu205Tyrfs) deletion Pathogenic rs886043201 GRCh37 Chromosome 2, 135872915: 135872915
15 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.475_478delACTG (p.Thr159Alafs) deletion Pathogenic rs886043202 GRCh37 Chromosome 2, 135870833: 135870836
16 RAB3GAP1 NM_012233.2(RAB3GAP1): c.630_631insC (p.Ile211Hisfs) insertion Pathogenic rs1064794536 GRCh38 Chromosome 2, 135115363: 135115364

Expression for Warburg Micro Syndrome 1

Search GEO for disease gene expression data for Warburg Micro Syndrome 1.

Pathways for Warburg Micro Syndrome 1

GO Terms for Warburg Micro Syndrome 1

Cellular components related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 endomembrane system GO:0012505 9.16 RABGAP1 TBC1D1
3 endoplasmic reticulum tubular network GO:0071782 8.62 RAB18 RAB3GAP1

Biological processes related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.76 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
2 intracellular protein transport GO:0006886 9.65 RAB3GAP2 RABGAP1 TBC1D1
3 regulation of GTPase activity GO:0043087 9.58 RAB3GAP1 RAB3GAP2 RABGAP1
4 activation of GTPase activity GO:0090630 9.52 RABGAP1 TBC1D1
5 camera-type eye development GO:0043010 9.51 RAB3GAP1 TBC1D20
6 regulation of vesicle fusion GO:0031338 9.49 RABGAP1 TBC1D1
7 positive regulation of autophagosome assembly GO:2000786 9.43 RAB3GAP1 RAB3GAP2
8 positive regulation of protein lipidation GO:1903061 9.37 RAB3GAP1 RAB3GAP2
9 regulation of cilium assembly GO:1902017 9.33 RABGAP1 TBC1D1 TBC1D20
10 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.32 RAB3GAP1 RAB3GAP2
11 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
12 lipid particle organization GO:0034389 9.13 RAB18 RAB3GAP1 TBC1D20
13 membrane organization GO:0061024 9.1 RAB18 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20

Molecular functions related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.35 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20
2 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
3 Rab GTPase binding GO:0017137 9.02 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20

Sources for Warburg Micro Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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