MARTS
MCID: MRT007
MIFTS: 48

Martsolf Syndrome (MARTS)

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

Aliases & Classifications for Martsolf Syndrome

MalaCards integrated aliases for Martsolf Syndrome:

Name: Martsolf Syndrome 57 12 20 58 72 36 13 44 15 39 70
Cataract-Intellectual Disability-Hypogonadism Syndrome 12 20 58 29 6
Cataract-Mental Retardation-Hypogonadism 57
Marts 72

Characteristics:

Orphanet epidemiological data:

58
cataract-intellectual disability-hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
martsolf syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Martsolf Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1387 Definition This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Epidemiology Less than 20 cases have been described in the literature so far. Clinical description Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism ( micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Etiology Mutations in the RAB3GAP2 gene have been identified in some patients. Genetic counseling Transmission is autosomal recessive.

MalaCards based summary : Martsolf Syndrome, also known as cataract-intellectual disability-hypogonadism syndrome, is related to rab18 deficiency and warburg micro syndrome 1, and has symptoms including finger joint laxity An important gene associated with Martsolf Syndrome is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and RAB geranylgeranylation. Affiliated tissues include eye, tongue and heart, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41.

KEGG : 36 Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia.

UniProtKB/Swiss-Prot : 72 Martsolf syndrome: Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive.

More information from OMIM: 212720

Related Diseases for Martsolf Syndrome

Diseases related to Martsolf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 rab18 deficiency 32.4 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
2 warburg micro syndrome 1 30.5 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB18
3 warburg micro syndrome 30.3 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB3A RAB18
4 warburg micro syndrome 2 30.2 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB18
5 warburg micro syndrome 4 30.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
6 warburg micro syndrome 3 29.9 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB18
7 hypogonadism 10.3
8 cataract 10.3
9 spastic cerebral palsy 10.2 TBC1D20 RAB3GAP2 RAB3GAP1
10 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.2 TBC1D24 CDC16
11 microcephaly 10.2
12 spastic diplegia 10.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
13 developmental and epileptic encephalopathy 16 10.1 TBC1D24 CDC16
14 deafness, autosomal dominant 65 10.1 TBC1D24 CDC16
15 griscelli syndrome 10.1 RPH3A RAB3A RAB18
16 alacrima, achalasia, and mental retardation syndrome 10.1
17 hypogonadotropic hypogonadism 10.1
18 deafness, autosomal recessive 86 10.0 TBC1D24 CDC16
19 lens disease 10.0 TBC1D20 RAB3GAP2 RAB3GAP1 CRYBB3
20 covid-19 10.0
21 spondyloepiphyseal dysplasia tarda, x-linked 9.9 TRAPPC9 TRAPPC2B
22 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
23 legg-calve-perthes disease 9.9
24 chromosome 1p36 deletion syndrome 9.9
25 autosomal recessive disease 9.9
26 scoliosis 9.9
27 spastic quadriplegia 9.9
28 clubfoot 9.9
29 quadriplegia 9.9
30 isolated gonadotropin-releasing hormone deficiency 9.9
31 normosmic congenital hypogonadotropic hypogonadism 9.9
32 autosomal recessive non-syndromic intellectual disability 9.9 TRAPPC9 TRAPPC2B RAB3GAP1 CHM
33 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.9 TLDC2 TBC1D24 NCOA7 MEAK7 CDC16

Graphical network of the top 20 diseases related to Martsolf Syndrome:



Diseases related to Martsolf Syndrome

Symptoms & Phenotypes for Martsolf Syndrome

Human phenotypes related to Martsolf Syndrome:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
6 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
7 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
8 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
9 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
10 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
11 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
12 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
13 furrowed tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000221
14 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
15 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
16 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
17 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
18 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 abnormal distal phalanx morphology of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009832
23 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
24 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
25 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
26 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
27 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
28 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
29 abnormality of the antihelix 58 31 occasional (7.5%) Occasional (29-5%) HP:0009738
30 recurrent respiratory infections 31 HP:0002205
31 pectus carinatum 31 HP:0000768
32 intellectual disability, severe 31 HP:0010864
33 congestive heart failure 31 HP:0001635
34 metatarsus adductus 31 HP:0001840
35 epicanthus 31 HP:0000286
36 pectus excavatum 31 HP:0000767
37 short toe 31 HP:0001831
38 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
39 joint laxity 31 HP:0001388
40 talipes equinovarus 31 HP:0001762
41 hypoplasia of the maxilla 31 HP:0000327
42 intellectual disability, progressive 31 HP:0006887
43 downslanted palpebral fissures 31 HP:0000494
44 micropenis 31 HP:0000054
45 tracheomalacia 31 HP:0002779
46 short metacarpal 31 HP:0010049
47 cardiomyopathy 31 HP:0001638
48 short palm 31 HP:0004279
49 posteriorly rotated ears 31 HP:0000358
50 broad nasal tip 31 HP:0000455

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
high palate
pouty lower lip

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Growth Height:
short stature
height less than 5th percentile

Head And Neck Face:
micrognathia
short philtrum
maxillary hypoplasia, mild

Cardiovascular Heart:
cardiomyopathy
cardiac failure

Head And Neck Nose:
broad nasal tip
low nasal bridge

Skeletal Feet:
talipes valgus
metatarsus varus
clubfoot
short toes

Skeletal Hands:
finger joint laxity
short metacarpals
short phalanges
short palms
broad fingertips

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
cataracts

Genitourinary External Genitalia Male:
small penis

Skeletal Limbs:
thin limbs
slender radii
slender ulnae

Abdomen Gastrointestinal:
feeding problems (infancy)

Respiratory:
recurrent respiratory infections

Head And Neck Head:
microcephaly
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Airways:
tracheomalacia

Head And Neck Ears:
posteriorly rotated ears
prominent antitragus

Skeletal Spine:
lumbar hyperlordosis

Chest Breasts:
prominent nipples

Endocrine Features:
hypogonadotropic hypogonadism

Neurologic Central Nervous System:
mental retardation, severe

Head And Neck Teeth:
malaligned teeth

Growth Weight:
weight less than 5th percentile

Skin Nails Hair Nails:
abnormal toenails

Clinical features from OMIM®:

212720 (Updated 05-Apr-2021)

UMLS symptoms related to Martsolf Syndrome:


finger joint laxity

Drugs & Therapeutics for Martsolf Syndrome

Search Clinical Trials , NIH Clinical Center for Martsolf Syndrome

Cochrane evidence based reviews: martsolf syndrome

Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

# Genetic test Affiliating Genes
1 Cataract-Intellectual Disability-Hypogonadism Syndrome 29 RAB3GAP2

Anatomical Context for Martsolf Syndrome

MalaCards organs/tissues related to Martsolf Syndrome:

40
Eye, Tongue, Heart

Publications for Martsolf Syndrome

Articles related to Martsolf Syndrome:

(show all 26)
# Title Authors PMID Year
1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 61 57 6
23420520 2013
2
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 61 57 6
16532399 2006
3
Martsolf syndrome in Japanese siblings. 61 57
17394201 2007
4
A new case of Martsolf syndrome. 61 57
17515302 2007
5
Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. 61 57
3409931 1988
6
Rab18 and a Rab18 GEF complex are required for normal ER structure. 6
24891604 2014
7
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. 57
2738902 1989
8
Martsolf's syndrome in a non-Jewish boy. 57
2896798 1988
9
Two brothers with Martsolf's syndrome. 57
4045961 1985
10
Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. 57
677168 1978
11
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
12
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 61
32162791 2020
13
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. 61
30856165 2019
14
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 61
29419336 2018
15
RAB18 Deficiency 61
29300443 2018
16
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. 61
27256633 2016
17
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. 61
23176487 2012
18
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 61
21473985 2011
19
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 61
20967465 2011
20
Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. 61
18463892 2008
21
Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. 61
18413245 2008
22
Phenotypic variability in Micro syndrome: report of new cases. 61
18286824 2007
23
[Martsolf syndrome]. 61
17022590 2006
24
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. 61
15216542 2004
25
[Martsolf syndrome]. 61
11528667 2001
26
Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. 61
1776632 1991

Variations for Martsolf Syndrome

ClinVar genetic disease variations for Martsolf Syndrome:

6 (show top 50) (show all 213)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB3GAP1 NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs) Deletion Pathogenic 545408 rs1553437083 GRCh37: 2:135809885-135809885
GRCh38: 2:135052315-135052315
2 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) SNV Pathogenic 100787 rs587777167 GRCh37: 1:220364621-220364621
GRCh38: 1:220191279-220191279
3 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1426_1427del (p.Glu476fs) Deletion Pathogenic 1030254 GRCh37: 1:220364470-220364471
GRCh38: 1:220191128-220191129
4 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1432_1433dup (p.Trp478fs) Microsatellite Pathogenic 1030255 GRCh37: 1:220364463-220364464
GRCh38: 1:220191121-220191122
5 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) Indel Pathogenic 1030256 GRCh37: 1:220346025-220346029
GRCh38: 1:220172683-220172687
6 RAB3GAP2 NM_012414.4(RAB3GAP2):c.304+1G>A SNV Pathogenic 1031202 GRCh37: 1:220387197-220387197
GRCh38: 1:220213855-220213855
7 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) SNV Pathogenic 1820 rs121434310 GRCh37: 1:220338075-220338075
GRCh38: 1:220164733-220164733
8 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) SNV Likely pathogenic 100787 rs587777167 GRCh37: 1:220364621-220364621
GRCh38: 1:220191279-220191279
9 RAB3GAP2 NM_012414.4(RAB3GAP2):c.387-2A>G SNV Likely pathogenic 870510 GRCh37: 1:220384346-220384346
GRCh38: 1:220211004-220211004
10 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu) SNV Likely pathogenic 870511 GRCh37: 1:220364614-220364614
GRCh38: 1:220191272-220191272
11 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn) SNV Likely pathogenic 981015 GRCh37: 1:220330782-220330782
GRCh38: 1:220157440-220157440
12 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
13 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) SNV Uncertain significance 463027 rs1553276414 GRCh37: 1:220363839-220363839
GRCh38: 1:220190497-220190497
14 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) SNV Uncertain significance 463031 rs778851334 GRCh37: 1:220326589-220326589
GRCh38: 1:220153247-220153247
15 RAB3GAP2 NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) SNV Uncertain significance 463028 rs138809681 GRCh37: 1:220406141-220406141
GRCh38: 1:220232799-220232799
16 RAB3GAP2 NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) SNV Uncertain significance 463030 rs1553278790 GRCh37: 1:220386305-220386305
GRCh38: 1:220212963-220212963
17 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) SNV Uncertain significance 295647 rs368216093 GRCh37: 1:220345270-220345270
GRCh38: 1:220171928-220171928
18 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1470G>A SNV Uncertain significance 295622 rs555263194 GRCh37: 1:220323123-220323123
GRCh38: 1:220149781-220149781
19 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2643T>C SNV Uncertain significance 295604 rs886046007 GRCh37: 1:220321950-220321950
GRCh38: 1:220148608-220148608
20 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*537G>C SNV Uncertain significance 295634 rs886046015 GRCh37: 1:220324056-220324056
GRCh38: 1:220150714-220150714
21 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) SNV Uncertain significance 295661 rs763764406 GRCh37: 1:220366647-220366647
GRCh38: 1:220193305-220193305
22 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2102C>A SNV Uncertain significance 295617 rs149913096 GRCh37: 1:220322491-220322491
GRCh38: 1:220149149-220149149
23 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-48A>G SNV Uncertain significance 295674 rs767297724 GRCh37: 1:220445727-220445727
GRCh38: 1:220272385-220272385
24 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3868-8A>G SNV Uncertain significance 295639 rs886046018 GRCh37: 1:220325114-220325114
GRCh38: 1:220151772-220151772
25 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1143A>G SNV Uncertain significance 295628 rs865932881 GRCh37: 1:220323450-220323450
GRCh38: 1:220150108-220150108
26 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 463026 rs188522997 GRCh37: 1:220366594-220366594
GRCh38: 1:220193252-220193252
27 RAB3GAP2 NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) SNV Uncertain significance 565975 rs749444902 GRCh37: 1:220384186-220384186
GRCh38: 1:220210844-220210844
28 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) SNV Uncertain significance 580491 rs149563712 GRCh37: 1:220363770-220363770
GRCh38: 1:220190428-220190428
29 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1631+6G>A SNV Uncertain significance 643354 rs780059285 GRCh37: 1:220363713-220363713
GRCh38: 1:220190371-220190371
30 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) SNV Uncertain significance 643940 rs150834670 GRCh37: 1:220341014-220341014
GRCh38: 1:220167672-220167672
31 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) SNV Uncertain significance 295658 rs886046021 GRCh37: 1:220363750-220363750
GRCh38: 1:220190408-220190408
32 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) SNV Uncertain significance 659150 rs1444884870 GRCh37: 1:220364504-220364504
GRCh38: 1:220191162-220191162
33 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) SNV Uncertain significance 531895 rs760241426 GRCh37: 1:220335582-220335582
GRCh38: 1:220162240-220162240
34 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*108T>A SNV Uncertain significance 295637 rs886046016 GRCh37: 1:220324485-220324485
GRCh38: 1:220151143-220151143
35 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1335C>T SNV Uncertain significance 295624 rs747221160 GRCh37: 1:220323258-220323258
GRCh38: 1:220149916-220149916
36 RAB3GAP2 NM_012414.4(RAB3GAP2):c.612+15T>C SNV Uncertain significance 295669 rs777576498 GRCh37: 1:220383715-220383715
GRCh38: 1:220210373-220210373
37 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2550G>C SNV Uncertain significance 295606 rs886046009 GRCh37: 1:220322043-220322043
GRCh38: 1:220148701-220148701
38 RAB3GAP2 NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) SNV Uncertain significance 295670 rs886046024 GRCh37: 1:220386232-220386232
GRCh38: 1:220212890-220212890
39 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) SNV Uncertain significance 295660 rs769450409 GRCh37: 1:220364620-220364620
GRCh38: 1:220191278-220191278
40 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2769G>T SNV Uncertain significance 295603 rs886046006 GRCh37: 1:220321824-220321824
GRCh38: 1:220148482-220148482
41 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) SNV Uncertain significance 295656 rs761157075 GRCh37: 1:220357485-220357485
GRCh38: 1:220184143-220184143
42 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1453T>G SNV Uncertain significance 295623 rs146743192 GRCh37: 1:220323140-220323140
GRCh38: 1:220149798-220149798
43 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2450G>T SNV Uncertain significance 295611 rs568052992 GRCh37: 1:220322143-220322143
GRCh38: 1:220148801-220148801
44 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1131-4T>C SNV Uncertain significance 295663 rs752780415 GRCh37: 1:220366725-220366725
GRCh38: 1:220193383-220193383
45 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) SNV Uncertain significance 295638 rs886046017 GRCh37: 1:220324996-220324996
GRCh38: 1:220151654-220151654
46 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2518A>G SNV Uncertain significance 295607 rs528100310 GRCh37: 1:220322075-220322075
GRCh38: 1:220148733-220148733
47 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) SNV Uncertain significance 295649 rs886046020 GRCh37: 1:220345354-220345354
GRCh38: 1:220172012-220172012
48 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-86T>C SNV Uncertain significance 295676 rs535968000 GRCh37: 1:220445765-220445765
GRCh38: 1:220272423-220272423
49 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2347T>C SNV Uncertain significance 295613 rs886046010 GRCh37: 1:220322246-220322246
GRCh38: 1:220148904-220148904
50 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-87A>G SNV Uncertain significance 295677 rs576041163 GRCh37: 1:220445766-220445766
GRCh38: 1:220272424-220272424

UniProtKB/Swiss-Prot genetic disease variations for Martsolf Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 RAB3GAP2 p.Gly1052Cys VAR_029881 rs121434310

Expression for Martsolf Syndrome

Search GEO for disease gene expression data for Martsolf Syndrome.

Pathways for Martsolf Syndrome

Pathways related to Martsolf Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 TRAPPC9 TBC1D24 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
2 11.31 RAB3A RAB18 CHM
3 11.1 TBC1D24 TBC1D20 RABGAP1
4 11.05 TRAPPC9 RAB3GAP2 RAB3GAP1 RAB3A RAB18 CHM
5 10.78 RAB3GAP2 RAB3GAP1 RAB18

GO Terms for Martsolf Syndrome

Cellular components related to Martsolf Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.65 RPH3A RAB3GAP2 RAB3GAP1 RAB3A PEX11B
2 endoplasmic reticulum membrane GO:0005789 9.63 UBXN4 TBC1D20 REEP4 RAB3GAP2 RAB3GAP1 RAB18
3 TRAPP complex GO:0030008 8.96 TRAPPC9 TRAPPC2B
4 endoplasmic reticulum tubular network GO:0071782 8.8 REEP4 RAB3GAP1 RAB18

Biological processes related to Martsolf Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 9.67 RABGAP1 RAB3GAP2 RAB3GAP1
2 regulation of cilium assembly GO:1902017 9.61 TBC1D24 TBC1D20 RABGAP1
3 regulation of short-term neuronal synaptic plasticity GO:0048172 9.51 RAB3GAP1 RAB3A
4 positive regulation of autophagosome assembly GO:2000786 9.48 RAB3GAP2 RAB3GAP1
5 endoplasmic reticulum tubular network organization GO:0071786 9.46 REEP4 RAB18
6 lipid droplet organization GO:0034389 9.43 TBC1D20 RAB3GAP1 RAB18
7 positive regulation of GTPase activity GO:0043547 9.43 TBC1D24 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 CHM
8 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.4 RAB3GAP2 RAB3GAP1
9 positive regulation of protein lipidation GO:1903061 9.37 RAB3GAP2 RAB3GAP1
10 negative regulation of oxidative stress-induced neuron death GO:1903204 9.33 TLDC2 NCOA7 MEAK7
11 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.32 RAB3GAP2 RAB3GAP1
12 intracellular protein transport GO:0006886 9.1 RPH3A RABGAP1 RAB3GAP2 RAB3A RAB18 CHM

Molecular functions related to Martsolf Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.35 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 CHM
2 GTPase activator activity GO:0005096 9.1 TBC1D24 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 CHM

Sources for Martsolf Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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