Martsolf Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111586

OMIM® ⁵⁷ 212720

KEGG ³⁶ H00797

MeSH ⁴⁴ C536028

SNOMED-CT ⁶⁷ 722380003

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷¹ C0796037

Orphanet ⁵⁸ ORPHA1387

MedGen ⁴¹ C0796037

UMLS ⁷⁰ C0796037

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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

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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:

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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

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Drugs & Therapeutics for Martsolf Syndrome

Search Clinical Trials , NIH Clinical Center for Martsolf Syndrome

Cochrane evidence based reviews: martsolf syndrome

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Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

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

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Anatomical Context for Martsolf Syndrome

MalaCards organs/tissues related to Martsolf Syndrome:

⁴⁰

Eye, Tongue, Heart

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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	Handley MT...Aligianis IA	23420520	2013
2	Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. ⁶¹ ⁵⁷ ⁶	Aligianis IA...Maher ER	16532399	2006
3	Martsolf syndrome in Japanese siblings. ⁶¹ ⁵⁷	Ehara H...Ohno K	17394201	2007
4	A new case of Martsolf syndrome. ⁶¹ ⁵⁷	Bora E...Ozkinay F	17515302	2007
5	Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. ⁶¹ ⁵⁷	Hennekam RC...Bijlsma JB	3409931	1988
6	Rab18 and a Rab18 GEF complex are required for normal ER structure. ⁶	Gerondopoulos A...Barr FA	24891604	2014
7	Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. ⁵⁷	Harbord MG...Wilson J	2738902	1989
8	Martsolf's syndrome in a non-Jewish boy. ⁵⁷	Strisciuglio P...Di Maio S	2896798	1988
9	Two brothers with Martsolf's syndrome. ⁵⁷	Sanchez JM...Freilij H	4045961	1985
10	Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. ⁵⁷	Martsolf JT...Haworth JC	677168	1978
11	Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. ⁶¹	Xu W...Balasubramanian R	32376645	2020
12	Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. ⁶¹	Hozhabri H...Dehghani M	32162791	2020
13	ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. ⁶¹	Handley MT...FitzPatrick DR	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	Gumus E	29419336	2018
15	RAB18 Deficiency ⁶¹	Handley M...Sheridan E	29300443	2018
16	Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. ⁶¹	Trkova M...Liskova P	27256633	2016
17	RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. ⁶¹	Handley MT...Aligianis IA	23176487	2012
18	Loss-of-function mutations in RAB18 cause Warburg micro syndrome. ⁶¹	Bem D...Aligianis IA	21473985	2011
19	A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ⁶¹	Borck G...Kubisch C	20967465	2011
20	Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. ⁶¹	Corbeel L...Freson K	18463892	2008
21	Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. ⁶¹	Sakane A...Sasaki T	18413245	2008
22	Phenotypic variability in Micro syndrome: report of new cases. ⁶¹	Abdel-Salam GM...Aligianis IA	18286824	2007
23	[Martsolf syndrome]. ⁶¹	Izumikawa Y	17022590	2006
24	Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. ⁶¹	Derbent M...Saatci U	15216542	2004
25	[Martsolf syndrome]. ⁶¹	Izumikawa Y	11528667	2001
26	Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. ⁶¹	Temtamy SA...Sinbawy AH	1776632	1991

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Genes for Martsolf Syndrome

Genes related to Martsolf Syndrome (2 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAB3GAP2	RAB3 GTPase Activating Non-Catalytic Protein Subunit 2	Protein Coding	1719.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16532399 23420520
2	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	766.35	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	23420520
3	TBC1D20	TBC1 Domain Family Member 20	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	14.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	TLDC2	TBC/LysM-Associated Domain Containing 2	Protein Coding	6.67	DISEASES inferred ¹⁵
6	MEAK7	MTOR Associated Protein, Eak-7 Homolog	Protein Coding	6.34	DISEASES inferred ¹⁵
7	REEP4	Receptor Accessory Protein 4	Protein Coding	6.22	DISEASES inferred ¹⁵
8	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	6.04	DISEASES inferred ¹⁵
9	FEZ2	Fasciculation And Elongation Protein Zeta 2	Protein Coding	6.02	DISEASES inferred ¹⁵
10	RPH3A	Rabphilin 3A	Protein Coding	5.84	DISEASES inferred ¹⁵
11	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.81	DISEASES inferred ¹⁵
12	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	5.62	DISEASES inferred ¹⁵
13	CDC16	Cell Division Cycle 16	Protein Coding	5.6	DISEASES inferred ¹⁵
14	UBXN4	UBX Domain Protein 4	Protein Coding	5.59	DISEASES inferred ¹⁵
15	RABGAP1	RAB GTPase Activating Protein 1	Protein Coding	5.58	DISEASES inferred ¹⁵
16	CHM	CHM Rab Escort Protein	Protein Coding	5.55	DISEASES inferred ¹⁵
17	TRAPPC2B	Trafficking Protein Particle Complex Subunit 2B	Protein Coding	5.53	DISEASES inferred ¹⁵
18	NCOA7	Nuclear Receptor Coactivator 7	Protein Coding	5.5	DISEASES inferred ¹⁵
19	PEX11B	Peroxisomal Biogenesis Factor 11 Beta	Protein Coding	5.47	DISEASES inferred ¹⁵
20	CRYBB3	Crystallin Beta B3	Protein Coding	5.46	DISEASES inferred ¹⁵
21	USP6	Ubiquitin Specific Peptidase 6	Protein Coding	5.42	DISEASES inferred ¹⁵
22	RAB3D	RAB3D, Member RAS Oncogene Family	Protein Coding	5.38	DISEASES inferred ¹⁵
23	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	5.38	DISEASES inferred ¹⁵
24	ZNF469	Zinc Finger Protein 469	Protein Coding	5.31	DISEASES inferred ¹⁵
25	TRAPPC2	Trafficking Protein Particle Complex Subunit 2	Protein Coding	5.24	DISEASES inferred ¹⁵

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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

Sources

Expression for Martsolf Syndrome

Search GEO for disease gene expression data for Martsolf Syndrome.

Sources

Pathways for Martsolf Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	12.71	TRAPPC9 TBC1D24 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
2	RAB geranylgeranylation ⁶⁵	11.31	RAB3A RAB18 CHM
3	TBC/RABGAPs ⁶⁵	11.1	TBC1D24 TBC1D20 RABGAP1
4	RAB GEFs exchange GTP for GDP on RABs ⁶⁵	11.05	TRAPPC9 RAB3GAP2 RAB3GAP1 RAB3A RAB18 CHM
5	COPI-independent Golgi-to-ER retrograde traffic ⁶⁵	10.78	RAB3GAP2 RAB3GAP1 RAB18

Sources

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

Sources for Martsolf Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Martsolf Syndrome (MARTS)

Aliases & Classifications for Martsolf Syndrome

MalaCards integrated aliases for Martsolf Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Martsolf Syndrome

Related Diseases for Martsolf Syndrome

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

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

Symptoms & Phenotypes for Martsolf Syndrome

Human phenotypes related to Martsolf Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Martsolf Syndrome:

Drugs & Therapeutics for Martsolf Syndrome

Cochrane evidence based reviews: martsolf syndrome

Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

Anatomical Context for Martsolf Syndrome

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Publications for Martsolf Syndrome

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Genes for Martsolf Syndrome

Genes related to Martsolf Syndrome (2 elite genes):

Variations for Martsolf Syndrome

ClinVar genetic disease variations for Martsolf Syndrome:

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

Expression for Martsolf Syndrome

Pathways for Martsolf Syndrome

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

GO Terms for Martsolf Syndrome

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

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

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

Sources for Martsolf Syndrome