WARBM1
MCID: WRB002
MIFTS: 42

Warburg Micro Syndrome 1 (WARBM1)

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

Aliases & Classifications for Warburg Micro Syndrome 1

MalaCards integrated aliases for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 57 12 75 29 13 6 15
Micro Syndrome 57 76 53 75
Warbm1 57 12 75
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 53
Warburg Sjo Fledelius Syndrome 73
Warburg Micro Syndrome, Type 1 40
Warburg Micro Syndrome 53
Micro Syndrome 1 12
Warbm 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Warburg Micro Syndrome 1, also known as micro syndrome, is related to warburg micro syndrome 4 and warburg micro syndrome 2. 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, and related phenotypes are agenesis of corpus callosum and high palate

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 : 57 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 : 75 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.

Wikipedia : 76 Micro syndrome also known as WARBM, and Warburg�??Sjo�??Fledelius syndrome, is a rare autosomal... more...

Related Diseases for Warburg Micro Syndrome 1

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:

57
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:

32 (show top 50) (show all 58)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 high palate 32 hallmark (90%) HP:0000218
3 ptosis 32 HP:0000508
4 intellectual disability 32 HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 muscular hypotonia 32 hallmark (90%) HP:0001252
7 spasticity 32 hallmark (90%) HP:0001257
8 hyperreflexia 32 HP:0001347
9 failure to thrive 32 HP:0001508
10 scoliosis 32 frequent (33%) HP:0002650
11 kyphosis 32 frequent (33%) HP:0002808
12 macrotia 32 frequent (33%) HP:0000400
13 cataract 32 hallmark (90%) HP:0000518
14 global developmental delay 32 hallmark (90%) HP:0001263
15 wide nasal bridge 32 hallmark (90%) HP:0000431
16 joint stiffness 32 hallmark (90%) HP:0001387
17 short nose 32 hallmark (90%) HP:0003196
18 microcephaly 32 hallmark (90%) HP:0000252
19 anteverted nares 32 hallmark (90%) HP:0000463
20 optic atrophy 32 hallmark (90%) HP:0000648
21 short stature 32 hallmark (90%) HP:0004322
22 abnormality of retinal pigmentation 32 frequent (33%) HP:0007703
23 abnormality of visual evoked potentials 32 frequent (33%) HP:0000649
24 delayed puberty 32 hallmark (90%) HP:0000823
25 osteoporosis 32 HP:0000939
26 intellectual disability, severe 32 hallmark (90%) HP:0010864
27 micrognathia 32 frequent (33%) HP:0000347
28 peripheral neuropathy 32 occasional (7.5%) HP:0009830
29 generalized hirsutism 32 frequent (33%) HP:0002230
30 cryptorchidism 32 hallmark (90%) HP:0000028
31 intrauterine growth retardation 32 frequent (33%) HP:0001511
32 cerebral cortical atrophy 32 frequent (33%) HP:0002120
33 cerebellar hypoplasia 32 HP:0001321
34 short philtrum 32 hallmark (90%) HP:0000322
35 microphthalmia 32 hallmark (90%) HP:0000568
36 deeply set eye 32 HP:0000490
37 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
38 joint hypermobility 32 occasional (7.5%) HP:0001382
39 hypoplasia of penis 32 frequent (33%) HP:0008736
40 microcornea 32 hallmark (90%) HP:0000482
41 hydronephrosis 32 occasional (7.5%) HP:0000126
42 pachygyria 32 hallmark (90%) HP:0001302
43 abnormal localization of kidney 32 occasional (7.5%) HP:0100542
44 aplasia/hypoplasia of the corpus callosum 32 hallmark (90%) HP:0007370
45 generalized hypotonia 32 HP:0001290
46 hypoplasia of the corpus callosum 32 HP:0002079
47 kyphoscoliosis 32 HP:0002751
48 cerebral atrophy 32 HP:0002059
49 spastic diplegia 32 HP:0001264
50 cerebellar vermis hypoplasia 32 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 29 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

MalaCards organs/tissues related to Warburg Micro Syndrome 1:

41
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 50)
# 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.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh38 Chromosome 2, 135168636: 135168636
3 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh37 Chromosome 2, 135878387: 135878387
4 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh38 Chromosome 2, 135120817: 135120817
5 RAB3GAP1 NM_012233.2(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh37 Chromosome 2, 135878489: 135878489
6 RAB3GAP1 NM_012233.2(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh38 Chromosome 2, 135120919: 135120919
7 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh37 Chromosome 2, 135908026: 135908026
8 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh38 Chromosome 2, 135150456: 135150456
9 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh37 Chromosome 2, 135893313: 135893313
10 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh38 Chromosome 2, 135135743: 135135743
11 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh37 Chromosome 2, 135891514: 135891514
12 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh38 Chromosome 2, 135133944: 135133944
13 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh37 Chromosome 2, 135848681: 135848687
14 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh38 Chromosome 2, 135091111: 135091117
15 RAB3GAP1 NM_012233.2(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh37 Chromosome 2, 135883820: 135883820
16 RAB3GAP1 NM_012233.2(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh38 Chromosome 2, 135126250: 135126250
17 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh37 Chromosome 2, 135908052: 135908070
18 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh38 Chromosome 2, 135150482: 135150500
19 RAB3GAP1 NM_012233.2(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh37 Chromosome 2, 135810033: 135810033
20 RAB3GAP1 NM_012233.2(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh38 Chromosome 2, 135052463: 135052463
21 RAB3GAP1 NM_012233.2(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh37 Chromosome 2, 135810052: 135810052
22 RAB3GAP1 NM_012233.2(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh38 Chromosome 2, 135052482: 135052482
23 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh37 Chromosome 2, 135893372: 135893372
24 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh38 Chromosome 2, 135135802: 135135802
25 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh37 Chromosome 2, 135911422: 135911422
26 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh38 Chromosome 2, 135153852: 135153852
27 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs) deletion Pathogenic rs794727324 GRCh37 Chromosome 2, 135920178: 135920182
28 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs) deletion Pathogenic rs794727324 GRCh38 Chromosome 2, 135162608: 135162612
29 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh37 Chromosome 2, 135922199: 135922199
30 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh38 Chromosome 2, 135164629: 135164629
31 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.612delC (p.Leu205Tyrfs) deletion Pathogenic rs886043201 GRCh37 Chromosome 2, 135872915: 135872915
32 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.612delC (p.Leu205Tyrfs) deletion Pathogenic rs886043201 GRCh38 Chromosome 2, 135115345: 135115345
33 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.475_478delACTG (p.Thr159Alafs) deletion Pathogenic rs886043202 GRCh37 Chromosome 2, 135870833: 135870836
34 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.475_478delACTG (p.Thr159Alafs) deletion Pathogenic rs886043202 GRCh38 Chromosome 2, 135113263: 135113266
35 RAB3GAP1 NM_012233.2(RAB3GAP1): c.630_631insC (p.Ile211Hisfs) insertion Pathogenic rs1064794536 GRCh37 Chromosome 2, 135872933: 135872934
36 RAB3GAP1 NM_012233.2(RAB3GAP1): c.630_631insC (p.Ile211Hisfs) insertion Pathogenic rs1064794536 GRCh38 Chromosome 2, 135115363: 135115364
37 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.970delCinsCC (p.Leu324Profs) indel Likely pathogenic GRCh38 Chromosome 2, 135126653: 135126653
38 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.970delCinsCC (p.Leu324Profs) indel Likely pathogenic GRCh37 Chromosome 2, 135884223: 135884223
39 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.429_430insT (p.Lys144Terfs) insertion Pathogenic GRCh38 Chromosome 2, 135113217: 135113218
40 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.429_430insT (p.Lys144Terfs) insertion Pathogenic GRCh37 Chromosome 2, 135870787: 135870788
41 RAB3GAP1 NM_012233.2(RAB3GAP1): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135115293: 135115293
42 RAB3GAP1 NM_012233.2(RAB3GAP1): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135872863: 135872863
43 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs532964185 GRCh38 Chromosome 2, 135130060: 135130060
44 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs532964185 GRCh37 Chromosome 2, 135887630: 135887630
45 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2865_2866insTTCT (p.Pro956PhefsTer15) insertion Pathogenic GRCh38 Chromosome 2, 135168700: 135168701
46 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2865_2866insTTCT (p.Pro956PhefsTer15) insertion Pathogenic GRCh37 Chromosome 2, 135926270: 135926271
47 RAB3GAP1 NM_012233.2(RAB3GAP1): c.469G> T (p.Gly157Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135870827: 135870827
48 RAB3GAP1 NM_012233.2(RAB3GAP1): c.469G> T (p.Gly157Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135113257: 135113257
49 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135890538: 135890538
50 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135132968: 135132968

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 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 11)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.71 RAB18 RAB3GAP2 RABGAP1 TBC1D1
2 positive regulation of GTPase activity GO:0043547 9.67 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
3 regulation of GTPase activity GO:0043087 9.61 RAB3GAP1 RAB3GAP2 RABGAP1
4 activation of GTPase activity GO:0090630 9.49 RABGAP1 TBC1D1
5 camera-type eye development GO:0043010 9.48 RAB3GAP1 TBC1D20
6 positive regulation of autophagosome assembly GO:2000786 9.46 RAB3GAP1 RAB3GAP2
7 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.32 RAB3GAP1 RAB3GAP2
8 positive regulation of protein lipidation GO:1903061 9.26 RAB3GAP1 RAB3GAP2
9 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.16 RAB3GAP1 RAB3GAP2
10 regulation of cilium assembly GO:1902017 9.13 RABGAP1 TBC1D1 TBC1D20
11 lipid droplet 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

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