MCID: WRB002
MIFTS: 42

Warburg Micro Syndrome 1

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

Aliases & Classifications for Warburg Micro Syndrome 1

MalaCards integrated aliases for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 53 12 71 28 13 14
Micro Syndrome 53 72 49 71
Warbm1 53 12 71
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 49
Warburg Sjo Fledelius Syndrome 69
Warburg Micro Syndrome 49
Micro Syndrome 1 12
Warbm 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 1

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2510Disease definitionMicro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenitalcataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.EpidemiologySince its initial description, 26 cases of Micro syndrome have been reported in the literature.Clinical descriptionWith exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period.EtiologyMutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. The RAB3GAP gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones. It has been suggested that the hypogenitalism is hypothalamic in origin, and that the ocular and neurodevelopmental defects result from abnormal neurotransmitter vesicular transport and exocytosis.Diagnostic methodsOcular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. Pathognomonic ophthalmologic findings include microphthalmia, microcornea, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment.Differential diagnosisMicro syndrome should be considered in any infant with congenital cataract.Management and treatmentThere is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended.Visit the Orphanet disease page for more resources. Last updated: 1/16/2006

MalaCards based summary : Warburg Micro Syndrome 1, also known as micro syndrome, is related to warburg micro syndrome 2 and warburg micro syndrome 4, and has symptoms including seizures, joint stiffness and agenesis of corpus callosum. 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, kidney and bone.

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.

OMIM : 53 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)

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.

Related Diseases for Warburg Micro Syndrome 1

Diseases in the Warburg Micro Syndrome family:

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

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 2 32.3 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 warburg micro syndrome 4 32.3 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
3 warburg micro syndrome 28.8 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
4 warburg micro syndrome 3 12.3
5 cataract 10.4
6 microcephaly 10.4
7 polyneuropathy 9.9
8 neuronitis 9.9
9 steroid-induced glaucoma 9.7 RAB3GAP1 RAB3GAP2
10 rab18 deficiency 9.5 RAB18 RAB3GAP1 TBC1D20
11 martsolf syndrome 9.4 RAB18 RAB3GAP1 RAB3GAP2
12 spastic diplegia 9.2 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:

53
Head And Neck Eyes:
ptosis
optic atrophy
microphthalmia
microcornea
congenital cataract
more
Head And Neck Head:
microcephaly

Skeletal:
osteoporosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
large ears

Genitourinary External Genitalia Male:
hypogenitalism

Skeletal Limbs:
joint hypermobility (rare)

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

Neurologic Central Nervous System:
hyperreflexia
cerebellar hypoplasia
hypoplasia of the corpus callosum
cerebral atrophy
spastic diplegia
more
Growth Height:
short stature

Head And Neck Face:
micrognathia

Skeletal Spine:
kyphoscoliosis

Skin Nails Hair Hair:
facial hypertrichosis

Growth Other:
postnatal failure to thrive

Skeletal Hands:
joint hypermobility (rare)


Clinical features from OMIM:

600118

Human phenotypes related to Warburg Micro Syndrome 1:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 joint stiffness 31 hallmark (90%) HP:0001387
3 agenesis of corpus callosum 31 HP:0001274
4 high palate 31 hallmark (90%) HP:0000218
5 ptosis 31 HP:0000508
6 intellectual disability 31 HP:0001249
7 muscular hypotonia 31 hallmark (90%) HP:0001252
8 spasticity 31 hallmark (90%) HP:0001257
9 hyperreflexia 31 HP:0001347
10 failure to thrive 31 HP:0001508
11 scoliosis 31 frequent (33%) HP:0002650
12 kyphosis 31 frequent (33%) HP:0002808
13 macrotia 31 frequent (33%) HP:0000400
14 cataract 31 hallmark (90%) HP:0000518
15 global developmental delay 31 hallmark (90%) HP:0001263
16 wide nasal bridge 31 hallmark (90%) HP:0000431
17 short nose 31 hallmark (90%) HP:0003196
18 microcephaly 31 hallmark (90%) HP:0000252
19 anteverted nares 31 hallmark (90%) HP:0000463
20 optic atrophy 31 hallmark (90%) HP:0000648
21 short stature 31 hallmark (90%) HP:0004322
22 abnormality of retinal pigmentation 31 frequent (33%) HP:0007703
23 abnormality of visual evoked potentials 31 frequent (33%) HP:0000649
24 delayed puberty 31 hallmark (90%) HP:0000823
25 osteoporosis 31 HP:0000939
26 intellectual disability, severe 31 hallmark (90%) HP:0010864
27 micrognathia 31 frequent (33%) HP:0000347
28 peripheral neuropathy 31 occasional (7.5%) HP:0009830
29 generalized hirsutism 31 frequent (33%) HP:0002230
30 cryptorchidism 31 hallmark (90%) HP:0000028
31 intrauterine growth retardation 31 frequent (33%) HP:0001511
32 cerebral cortical atrophy 31 frequent (33%) HP:0002120
33 cerebellar hypoplasia 31 HP:0001321
34 short philtrum 31 hallmark (90%) HP:0000322
35 microphthalmia 31 hallmark (90%) HP:0000568
36 deeply set eye 31 HP:0000490
37 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
38 joint hypermobility 31 occasional (7.5%) HP:0001382
39 hypoplasia of penis 31 frequent (33%) HP:0008736
40 microcornea 31 hallmark (90%) HP:0000482
41 hydronephrosis 31 occasional (7.5%) HP:0000126
42 pachygyria 31 hallmark (90%) HP:0001302
43 abnormal localization of kidney 31 occasional (7.5%) HP:0100542
44 aplasia/hypoplasia of the corpus callosum 31 hallmark (90%) HP:0007370
45 lissencephaly 31 hallmark (90%) HP:0001339
46 hypoplasia of the corpus callosum 31 HP:0002079
47 kyphoscoliosis 31 HP:0002751
48 cerebral atrophy 31 HP:0002059
49 spastic diplegia 31 HP:0001264
50 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320

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:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 1 28 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

MalaCards organs/tissues related to Warburg Micro Syndrome 1:

38
Eye, Kidney, Bone

Publications for Warburg Micro Syndrome 1

Articles related to Warburg Micro Syndrome 1:

# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP1 NM_012233.2(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh37 Chromosome 2, 135883820: 135883820
2 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh37 Chromosome 2, 135908052: 135908070
3 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh37 Chromosome 2, 135810033: 135810033
4 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh37 Chromosome 2, 135810052: 135810052
5 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs) deletion Pathogenic rs794727324 GRCh37 Chromosome 2, 135920178: 135920182
6 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh37 Chromosome 2, 135926206: 135926206
7 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh37 Chromosome 2, 135878387: 135878387
8 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh37 Chromosome 2, 135878489: 135878489
9 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh37 Chromosome 2, 135908026: 135908026
10 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh37 Chromosome 2, 135893313: 135893313
11 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh37 Chromosome 2, 135891514: 135891514
12 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh37 Chromosome 2, 135848681: 135848687
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:

# 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 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.67 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
2 intracellular protein transport GO:0006886 9.63 RAB3GAP2 RABGAP1 TBC1D1
3 regulation of GTPase activity GO:0043087 9.58 RAB3GAP1 RAB3GAP2 RABGAP1
4 activation of GTPase activity GO:0090630 9.51 RABGAP1 TBC1D1
5 camera-type eye development GO:0043010 9.49 RAB3GAP1 TBC1D20
6 regulation of vesicle fusion GO:0031338 9.48 RABGAP1 TBC1D1
7 positive regulation of autophagosome assembly GO:2000786 9.43 RAB3GAP1 RAB3GAP2
8 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.32 RAB3GAP1 RAB3GAP2
9 positive regulation of protein lipidation GO:1903061 9.26 RAB3GAP1 RAB3GAP2
10 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.16 RAB3GAP1 RAB3GAP2
11 regulation of cilium assembly GO:1902017 9.13 RABGAP1 TBC1D1 TBC1D20
12 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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