WARBM1
MCID: WRB002
MIFTS: 51

Warburg Micro Syndrome 1 (WARBM1)

Categories: Eye diseases, Fetal 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 72 29 13 6 15
Micro Syndrome 57 73 20 58 72 6
Warbm1 57 12 72
Warburg Micro Syndrome 20 58
Warbm 20 58
Warburg Sjo Fledelius Syndrome 70
Warburg Micro Syndrome, Type 1 39
Micro Syndrome 1 12

Characteristics:

Orphanet epidemiological data:

58
micro syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Warburg Micro Syndrome 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2510 Definition Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Epidemiology Since its initial description, 26 cases of Micro syndrome have been reported in the literature. Clinical description With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Etiology Mutations 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 methods Ocular 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 diagnosis Micro syndrome should be considered in any infant with congenital cataract. Management and treatment There is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended.

MalaCards based summary : Warburg Micro Syndrome 1, also known as micro syndrome, is related to warburg micro syndrome 4 and warburg micro syndrome 3. 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 Autophagy Pathway. Affiliated tissues include eye, cerebellum and kidney, and related phenotypes are spasticity 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Warburg Micro syndrome (WARBM), also known as Micro syndrome, is a rare autosomal recessive genetic... more...

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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 4 31.5 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
2 warburg micro syndrome 3 30.4 ZNF718 ZNF595 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3D
3 warburg micro syndrome 2 30.4 ZNF718 ZNF595 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3D
4 martsolf syndrome 30.3 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB3D RAB18
5 microphthalmia 29.7 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
6 rab18 deficiency 29.6 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
7 spastic diplegia 29.6 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
8 warburg micro syndrome 28.4 ZRANB3 ZNF718 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
9 cataract 10.3
10 alacrima, achalasia, and mental retardation syndrome 10.2
11 microcephaly 10.2
12 3-methylglutaconic aciduria, type iii 10.1
13 nondisjunction 10.1
14 ataxia and polyneuropathy, adult-onset 10.1
15 autosomal recessive disease 10.1
16 polyneuropathy 10.1
17 hypogonadism 10.0
18 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
19 neuropathy 10.0
20 polymicrogyria 10.0
21 hypotonia 10.0
22 spastic cerebral palsy 9.8 TBC1D20 RAB3GAP2 RAB3GAP1
23 chromosome 1p36 deletion syndrome 9.8
24 ptosis 9.8
25 peripheral nervous system disease 9.8
26 spasticity 9.8
27 lens disease 9.8 TBC1D20 RAB3GAP2 RAB3GAP1
28 atrial standstill 1 9.7
29 coloboma of macula 9.7
30 retinal detachment 9.7
31 cerebrooculofacioskeletal syndrome 1 9.7
32 cryptorchidism, unilateral or bilateral 9.7
33 neu-laxova syndrome 1 9.7
34 smith-lemli-opitz syndrome 9.7
35 opitz gbbb syndrome, type i 9.7
36 microphthalmia, syndromic 1 9.7
37 yemenite deaf-blind hypopigmentation syndrome 9.7
38 cerebrooculofacioskeletal syndrome 2 9.7
39 cerebrooculofacioskeletal syndrome 4 9.7
40 charcot-marie-tooth disease 9.7
41 cortical blindness 9.7
42 male infertility 9.7
43 sensory peripheral neuropathy 9.7
44 cockayne syndrome 9.7
45 cutis laxa 9.7
46 hypertrichosis 9.7
47 infertility 9.7
48 fundus dystrophy 9.7
49 rubella 9.7
50 toxoplasmosis 9.7

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

Human phenotypes related to Warburg Micro Syndrome 1:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
7 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
10 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
11 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
12 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
13 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
14 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
15 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
16 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
17 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
18 aplasia/hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007370
19 pachygyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001302
20 cerebral visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100704
21 hypotonia 31 hallmark (90%) HP:0001252
22 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
23 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
24 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
25 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
26 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
27 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
28 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
29 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
30 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
31 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
32 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
33 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000060
34 hypoplastic labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000064
35 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
36 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
37 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
38 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
39 retinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000480
40 joint hypermobility 31 occasional (7.5%) HP:0001382
41 overlapping toe 31 occasional (7.5%) HP:0001845
42 seizure 31 occasional (7.5%) HP:0001250
43 intellectual disability 31 HP:0001249
44 seizures 58 Occasional (29-5%)
45 agenesis of corpus callosum 31 HP:0001274
46 hyperreflexia 31 HP:0001347
47 failure to thrive 31 HP:0001508
48 ptosis 31 HP:0000508
49 muscular hypotonia 58 Very frequent (99-80%)
50 osteoporosis 31 HP:0000939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
cerebellar hypoplasia
hypoplasia of the corpus callosum
cerebral atrophy
spastic diplegia
more
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia

Skin Nails Hair Hair:
facial hypertrichosis

Genitourinary External Genitalia Male:
hypogenitalism

Skeletal Limbs:
joint hypermobility (rare)

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

Head And Neck Eyes:
ptosis
optic atrophy
microphthalmia
microcornea
deep-set eyes
more
Growth Height:
short stature

Skeletal:
osteoporosis

Skeletal Spine:
kyphoscoliosis

Head And Neck Ears:
large ears

Growth Other:
postnatal failure to thrive

Skeletal Hands:
joint hypermobility (rare)

Clinical features from OMIM®:

600118 (Updated 20-May-2021)

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:

40
Eye, Cerebellum, Kidney, Cortex

Publications for Warburg Micro Syndrome 1

Articles related to Warburg Micro Syndrome 1:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 6 57 61
23420520 2013
2
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 61 6 57
20512159 2010
3
Warburg Micro syndrome in a Turkish boy. 61 6 57
17351351 2007
4
Phenotypic variability in Micro syndrome: report of new cases. 57 6 61
18286824 2007
5
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. 6 61 57
15696165 2005
6
MICRO syndrome: an entity distinct from COFS syndrome. 57 6 61
15216543 2004
7
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? 61 6 57
10465117 1999
8
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. 57 6 61
8249951 1993
9
X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. 57 6
8958326 1996
10
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. 6 61
26421802 2016
11
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 6 61
24239381 2013
12
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 6 61
21473985 2011
13
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 6 61
20967465 2011
14
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. 61 57
15216542 2004
15
Micro syndrome in Muslim Pakistan children. 57 61
11237903 2001
16
A second family with Micro syndrome. 57 61
10532171 1999
17
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
18
Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. 6
20584031 2010
19
Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia. 57
4839026 1974
20
MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME. 57
14339397 1965
21
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report. 61
33466118 2021
22
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I. 61
32248620 2021
23
[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. 61
33306828 2020
24
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. 61
32740904 2020
25
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
26
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 61
32162791 2020
27
Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria. 61
32477580 2020
28
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. 61
32599602 2020
29
Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B. 61
30721447 2019
30
Rab18: new insights into the function of an essential protein. 61
30830238 2019
31
[Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child]. 61
30022763 2018
32
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 61
29419336 2018
33
RAB18 Deficiency 61
29300443 2018
34
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. 61
29675078 2017
35
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. 61
28677370 2017
36
TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. 61
27487390 2016
37
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. 61
27256633 2016
38
Consanguinity as an Adjunct Diagnostic Tool. 61
26138576 2016
39
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. 61
26607784 2016
40
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. 61
26879639 2016
41
Warburg micro syndrome in siblings from India. 61
27195044 2016
42
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. 61
27764520 2016
43
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). 61
26596647 2015
44
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 61
26063829 2015
45
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
46
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. 61
25899426 2015
47
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 61
25779931 2015
48
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. 61
27081543 2015
49
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION. 61
26852512 2015
50
Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. 61
25476608 2014

Variations for Warburg Micro Syndrome 1

ClinVar genetic disease variations for Warburg Micro Syndrome 1:

6 (show top 50) (show all 449)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB3GAP1 NM_012233.3(RAB3GAP1):c.649-2A>G SNV Pathogenic 7057 rs730882183 GRCh37: 2:135878387-135878387
GRCh38: 2:135120817-135120817
2 RAB3GAP1 NM_012233.3(RAB3GAP1):c.748+1G>A SNV Pathogenic 7058 rs587776651 GRCh37: 2:135878489-135878489
GRCh38: 2:135120919-135120919
3 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) SNV Pathogenic 7059 rs137853052 GRCh37: 2:135908026-135908026
GRCh38: 2:135150456-135150456
4 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) SNV Pathogenic 7060 rs137853053 GRCh37: 2:135893313-135893313
GRCh38: 2:135135743-135135743
5 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) SNV Pathogenic 7061 rs267606996 GRCh37: 2:135891514-135891514
GRCh38: 2:135133944-135133944
6 RAB3GAP1 NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) Indel Pathogenic 7062 rs730882184 GRCh37: 2:135848681-135848687
GRCh38: 2:135091111-135091117
7 RAB18 RAB18, EX2DEL Deletion Pathogenic 30248 GRCh37:
GRCh38:
8 RAB3GAP1 NM_012233.3(RAB3GAP1):c.899+1G>A SNV Pathogenic 100769 rs587777152 GRCh37: 2:135883820-135883820
GRCh38: 2:135126250-135126250
9 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) Duplication Pathogenic 100770 rs587777153 GRCh37: 2:135908047-135908048
GRCh38: 2:135150477-135150478
10 TBC1D20 NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter) SNV Pathogenic 100774 rs587777157 GRCh37: 20:428590-428590
GRCh38: 20:447946-447946
11 TBC1D20 NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter) SNV Pathogenic 100775 rs587777158 GRCh37: 20:425739-425739
GRCh38: 20:445095-445095
12 TBC1D20 NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs) Deletion Pathogenic 100776 rs587777159 GRCh37: 20:422672-422673
GRCh38: 20:442028-442029
13 TBC1D20 NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) SNV Pathogenic 100777 rs587777160 GRCh37: 20:420988-420988
GRCh38: 20:440344-440344
14 TBC1D20 NM_144628.2(TBC1D20):c.71-?_*1+?del Deletion Pathogenic 100778 GRCh37:
GRCh38: 20:435480-448074
15 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) SNV Pathogenic 100788 rs587777168 GRCh37: 1:220364463-220364463
GRCh38: 1:220191121-220191121
16 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) SNV Pathogenic 100789 rs587777169 GRCh37: 1:220327318-220327318
GRCh38: 1:220153976-220153976
17 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) SNV Pathogenic 100790 rs587777170 GRCh37: 1:220340637-220340637
GRCh38: 1:220167295-220167295
18 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) SNV Pathogenic 211979 rs797045905 GRCh37: 2:135922199-135922199
GRCh38: 2:135164629-135164629
19 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) Duplication Pathogenic 436479 rs1553275687 GRCh37: 1:220356064-220356065
GRCh38: 1:220182722-220182723
20 RAB3GAP1 NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) Insertion Pathogenic 420527 rs1064794536 GRCh37: 2:135872933-135872934
GRCh38: 2:135115363-135115364
21 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1237-2A>G SNV Pathogenic 623318 rs1558792168 GRCh37: 2:135890463-135890463
GRCh38: 2:135132893-135132893
22 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) SNV Pathogenic 623319 rs1558805900 GRCh37: 2:135920556-135920556
GRCh38: 2:135162986-135162986
23 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) SNV Pathogenic 635325 rs1573585099 GRCh37: 2:135893487-135893487
GRCh38: 2:135135917-135135917
24 RAB3GAP1 NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) Duplication Pathogenic 522788 rs1553444644 GRCh37: 2:135870786-135870787
GRCh38: 2:135113216-135113217
25 RAB3GAP1 NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) SNV Pathogenic 561095 rs1558782178 GRCh37: 2:135870827-135870827
GRCh38: 2:135113257-135113257
26 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) SNV Pathogenic 191126 rs766629205 GRCh37: 2:135887600-135887600
GRCh38: 2:135130030-135130030
27 RAB3GAP1 NM_012233.3(RAB3GAP1):c.520C>T (p.Arg174Ter) SNV Pathogenic 997639 GRCh37: 2:135872823-135872823
GRCh38: 2:135115253-135115253
28 RAB18 NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) SNV Pathogenic 30247 rs387906832 GRCh37: 10:27798806-27798806
GRCh38: 10:27509877-27509877
29 RAB18 NM_021252.5(RAB18):c.274_276AGA[1] (p.Arg93del) Microsatellite Pathogenic 30249 rs587776875 GRCh37: 10:27822677-27822679
GRCh38: 10:27533748-27533750
30 RAB18 NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) SNV Pathogenic 30250 rs387906833 GRCh37: 10:27826978-27826978
GRCh38: 10:27538049-27538049
31 RAB3GAP2 NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) Deletion Pathogenic 30782 rs1553278569 GRCh37: 1:220384146-220384154
GRCh38: 1:220210804-220210812
32 RAB18 NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) SNV Pathogenic 100768 rs587777151 GRCh37: 10:27822688-27822688
GRCh38: 10:27533759-27533759
33 RAB3GAP1 NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) SNV Pathogenic 100771 rs587777154 GRCh37: 2:135810033-135810033
GRCh38: 2:135052463-135052463
34 RAB3GAP1 NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) SNV Pathogenic 100772 rs587777155 GRCh37: 2:135810052-135810052
GRCh38: 2:135052482-135052482
35 RAB3GAP1 NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) SNV Pathogenic 545409 rs1553444935 GRCh37: 2:135872863-135872863
GRCh38: 2:135115293-135115293
36 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) SNV Pathogenic 545410 rs532964185 GRCh37: 2:135887630-135887630
GRCh38: 2:135130060-135130060
37 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) Insertion Pathogenic 545411 rs1553450718 GRCh37: 2:135926270-135926271
GRCh38: 2:135168700-135168701
38 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) SNV Pathogenic 100787 rs587777167 GRCh37: 1:220364621-220364621
GRCh38: 1:220191279-220191279
39 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) Deletion Pathogenic 7056 rs730882182 GRCh37: 2:135926202-135926202
GRCh38: 2:135168632-135168632
40 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) SNV Pathogenic 591696 rs1558805781 GRCh37: 2:135920417-135920417
GRCh38: 2:135162847-135162847
41 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) SNV Pathogenic 1047919 GRCh37: 2:135892887-135892887
GRCh38: 2:135135317-135135317
42 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1555-1G>A SNV Pathogenic 800519 rs1573584395 GRCh37: 2:135893133-135893133
GRCh38: 2:135135563-135135563
43 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) SNV Pathogenic 560923 rs1558792256 GRCh37: 2:135890538-135890538
GRCh38: 2:135132968-135132968
44 RAB3GAP1 NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) SNV Likely pathogenic 800891 rs764260054 GRCh37: 2:135872862-135872862
GRCh38: 2:135115292-135115292
45 RAB3GAP2 NM_012414.4(RAB3GAP2):c.713-2A>G SNV Likely pathogenic 208607 rs797045103 GRCh37: 1:220375718-220375718
GRCh38: 1:220202376-220202376
46 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) SNV Conflicting interpretations of pathogenicity 436467 rs141436429 GRCh37: 2:135926351-135926351
GRCh38: 2:135168781-135168781
47 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) SNV Conflicting interpretations of pathogenicity 235683 rs139337049 GRCh37: 1:220355619-220355619
GRCh38: 1:220182277-220182277
48 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 463026 rs188522997 GRCh37: 1:220366594-220366594
GRCh38: 1:220193252-220193252
49 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*547A>G SNV Uncertain significance 331143 rs886054856 GRCh37: 2:135926898-135926898
GRCh38: 2:135169328-135169328
50 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) SNV Uncertain significance 331126 rs201430480 GRCh37: 2:135888230-135888230
GRCh38: 2:135130660-135130660

Expression for Warburg Micro Syndrome 1

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

Pathways for Warburg Micro Syndrome 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB18
2 11.72 RAB3D RAB2A RAB18
3 11.29 RAB3GAP2 RAB3GAP1 RAB18
4 11.04 TBC1D20 RABGAP1
5 10.94 RAB3D RAB2A RAB18
6 10.25 RAB3GAP2 RAB3GAP1 RAB18

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 9.35 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
2 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.16 TBC1D20 RAB2A
3 endoplasmic reticulum tubular network GO:0071782 8.62 RAB3GAP1 RAB18

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.71 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
2 intracellular protein transport GO:0006886 9.67 RABGAP1 RAB3GAP2 RAB3D RAB18
3 regulation of GTPase activity GO:0043087 9.5 RABGAP1 RAB3GAP2 RAB3GAP1
4 camera-type eye development GO:0043010 9.48 TBC1D20 RAB3GAP1
5 regulation of cilium assembly GO:1902017 9.46 TBC1D20 RABGAP1
6 positive regulation of autophagosome assembly GO:2000786 9.43 RAB3GAP2 RAB3GAP1
7 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP2 RAB3GAP1
8 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP2 RAB3GAP1
9 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP2 RAB3GAP1
10 lipid droplet organization GO:0034389 8.8 TBC1D20 RAB3GAP1 RAB18

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.5 RAB3D RAB2A RAB18
2 GTPase activity GO:0003924 9.33 RAB3D RAB2A RAB18
3 GDP binding GO:0019003 9.26 RAB2A RAB18
4 small GTPase binding GO:0031267 9.26 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
5 GTPase activator activity GO:0005096 8.92 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1

Sources for Warburg Micro Syndrome 1

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