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

MARTS MCID: MRT007 MIFTS: 42	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 ⁵³ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Cataract-Intellectual Disability-Hypogonadism Syndrome ⁵³ ⁵⁹

Cataract-Mental Retardation-Hypogonadism ⁵⁷

Marts ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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: ³⁴

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: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 212720

Orphanet ⁵⁹ ORPHA1387

UMLS via Orphanet ⁷⁴ C0796037

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C0796037

KEGG ³⁷ H00797

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 33927004 more

UMLS ⁷³ C0796037

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Summaries for Martsolf Syndrome

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1387Disease definitionThis syndrome is characterized by the association of intellectual deficit, congenitalcataract, and hypogonadotropic hypogonadism.EpidemiologyLess than 20 cases have been described in the literature so far.Clinical descriptionBesides 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).EtiologyMutations in the RAB3GAP2 gene have been identified in some patients.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Martsolf Syndrome, also known as cataract-intellectual disability-hypogonadism syndrome, is related to rab18 deficiency and warburg micro syndrome, 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 Golgi-to-ER retrograde transport and RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include heart, eye and tongue, and related phenotypes are malar flattening and high palate

UniProtKB/Swiss-Prot : ⁷⁵ Martsolf syndrome: Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive.

Description 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	31.5	RAB18 RAB3GAP1
2	warburg micro syndrome	29.8	IARS2 RAB18 RAB3GAP1 RAB3GAP2
3	pulmonary alveolar microlithiasis	10.3
4	fatty liver disease, nonalcoholic 1	10.1
5	lipid metabolism disorder	10.0
6	steroid-induced glaucoma	9.9	RAB3GAP1 RAB3GAP2
7	colorectal cancer	9.9
8	fish-eye disease	9.9
9	cervical cancer	9.9
10	spondyloocular syndrome	9.9
11	brain injury	9.9
12	cutaneous leishmaniasis	9.9
13	traumatic brain injury	9.9
14	colitis	9.9
15	obstructive nephropathy	9.9
16	xerophthalmia	9.9
17	pleurisy	9.9
18	meningoencephalitis	9.9
19	cryptococcosis	9.9
20	renovascular hypertension	9.9
21	post-traumatic stress disorder	9.9
22	tularemia	9.9
23	peanut allergy	9.9
24	adenoma	9.9
25	hyperthyroidism	9.9
26	leishmaniasis	9.9
27	amyloidosis	9.9
28	al amyloidosis	9.9
29	warburg micro syndrome 1	9.8	RAB18 RAB3GAP1 RAB3GAP2
30	warburg micro syndrome 4	9.8	RAB18 RAB3GAP1 RAB3GAP2
31	spastic diplegia	9.8	RAB18 RAB3GAP1 RAB3GAP2
32	microcephaly	9.6	RAB18 RAB3GAP1 RAB3GAP2
33	warburg micro syndrome 2	9.3	MIR664A RAB18 RAB3GAP1 RAB3GAP2 SNORA36B

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

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Symptoms & Phenotypes for Martsolf Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Respiratory:
recurrent respiratory infections

Growth Height:
short stature
height less than 5th percentile

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
broad nasal tip
low nasal bridge

Respiratory Airways:
tracheomalacia

Skeletal Spine:
lumbar hyperlordosis

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
cataracts

Endocrine Features:
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
small penis

Skeletal Limbs:
thin limbs
slender radii
slender ulnae

Abdomen Gastrointestinal:
feeding problems (infancy)

Head And Neck Mouth:
high palate
pouty lower lip

Head And Neck Head:
microcephaly
brachycephaly

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

Cardiovascular Heart:
cardiomyopathy
cardiac failure

Chest Breasts:
prominent nipples

Head And Neck Ears:
posteriorly rotated ears
prominent antitragus

Skeletal Feet:
clubfoot
metatarsus varus
short toes
talipes valgus

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

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

Human phenotypes related to Martsolf Syndrome:

⁵⁹ ³² (show top 50) (show all 57)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	malar flattening ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000272
2	high palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000218
3	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
4	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
5	hyperlordosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003307
6	cataract ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000518
7	depressed nasal bridge ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005280
8	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
9	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
10	feeding difficulties in infancy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008872
11	brachycephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000248
12	micrognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000347
13	everted lower lip vermilion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000232
14	cryptorchidism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000028
15	low posterior hairline ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002162
16	abnormal dermatoglyphics ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007477
17	hypogonadotrophic hypogonadism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000044
18	cerebral cortical atrophy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002120
19	short philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000322
20	abnormality of the antihelix ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0009738
21	low-set, posteriorly rotated ears ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000368
22	prematurely aged appearance ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007495
23	midface retrusion ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011800
24	abnormality of the distal phalanx of finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009832
25	hypotelorism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000601
26	ulnar deviation of finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009465
27	furrowed tongue ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000221
28	abnormal toenail morphology ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008388
29	misalignment of teeth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000692
30	pectus excavatum ³²			HP:0000767
31	recurrent respiratory infections ³²			HP:0002205
32	pectus carinatum ³²			HP:0000768
33	intellectual disability, severe ³²			HP:0010864
34	short palm ³²			HP:0004279
35	epicanthus ³²			HP:0000286
36	congestive heart failure ³²			HP:0001635
37	metatarsus adductus ³²			HP:0001840
38	short toe ³²			HP:0001831
39	cardiomyopathy ³²			HP:0001638
40	joint laxity ³²			HP:0001388
41	talipes equinovarus ³²			HP:0001762
42	intellectual disability, progressive ³²			HP:0006887
43	hypoplasia of the maxilla ³²			HP:0000327
44	downslanted palpebral fissures ³²			HP:0000494
45	broad nasal tip ³²			HP:0000455
46	abnormality of the hand ⁵⁹		Frequent (79-30%)
47	prominent nipples ³²			HP:0004405
48	tracheomalacia ³²			HP:0002779
49	short metacarpal ³²			HP:0010049
50	micropenis ³²			HP:0000054

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

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Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

#	Genetic test	Affiliating Genes
1	Martsolf Syndrome ²⁹	RAB3GAP2

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Anatomical Context for Martsolf Syndrome

MalaCards organs/tissues related to Martsolf Syndrome:

⁴¹

Heart, Eye, Tongue, Brain, Liver

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Publications for Martsolf Syndrome

Articles related to Martsolf Syndrome:

#	Title	Authors	Year
1	Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? ( 29419336 )		2018
2	Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ( 23420520 )	Handley M.T....Aligianis I.A.	2013
3	Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. ( 18413245 )	Sakane A....Sasaki T.	2008
4	Martsolf syndrome in Japanese siblings. ( 17394201 )	Ehara H....Ohno K.	2007
5	A new case of Martsolf syndrome. ( 17515302 )	Bora E....Ozkinay F.	2007
6	Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. ( 16532399 )	Aligianis I.A....Maher E.R.	2006
7	Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. ( 3409931 )	Hennekam R.C....Bijlsma J.B.	1988

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Genes for Martsolf Syndrome

Genes related to Martsolf Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAB3GAP2	RAB3 GTPase Activating Non-Catalytic Protein Subunit 2	Protein Coding	1699.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	29300443 16532399 23420520
2	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	767.47	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ GeneCards inferred via : Publications (show sections)	29300443
3	IARS2	Isoleucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	17.57	GeneCards inferred via : Variants (show sections)
4	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	17.27	GeneCards inferred via : Publications (show sections)
5	MIR664A	MicroRNA 664a	RNA Gene	7.37	GeneCards inferred via : Variants (show sections)
6	SNORA36B	Small Nucleolar RNA, H/ACA Box 36B	RNA Gene	7.37	GeneCards inferred via : Variants (show sections)

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Variations for Martsolf Syndrome

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

⁷⁵

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

ClinVar genetic disease variations for Martsolf Syndrome:

⁶ (show top 50) (show all 212)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3154G> T (p.Gly1052Cys)	single nucleotide variant	Pathogenic	rs121434310	GRCh37	Chromosome 1, 220338075: 220338075
2	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3154G> T (p.Gly1052Cys)	single nucleotide variant	Pathogenic	rs121434310	GRCh38	Chromosome 1, 220164733: 220164733
3	RAB3GAP2	NM_012414.3(RAB3GAP2): c.1276C> T (p.Arg426Cys)	single nucleotide variant	Likely pathogenic	rs587777167	GRCh37	Chromosome 1, 220364621: 220364621
4	RAB3GAP2	NM_012414.3(RAB3GAP2): c.1276C> T (p.Arg426Cys)	single nucleotide variant	Likely pathogenic	rs587777167	GRCh38	Chromosome 1, 220191279: 220191279
5	RAB3GAP2	NM_012414.3(RAB3GAP2): c.774A> G (p.Leu258=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs576411922	GRCh37	Chromosome 1, 220375655: 220375655
6	RAB3GAP2	NM_012414.3(RAB3GAP2): c.774A> G (p.Leu258=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs576411922	GRCh38	Chromosome 1, 220202313: 220202313
7	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=)	single nucleotide variant	Benign/Likely benign	rs2577126	GRCh37	Chromosome 1, 220356184: 220356184
8	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=)	single nucleotide variant	Benign/Likely benign	rs2577126	GRCh38	Chromosome 1, 220182842: 220182842
9	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala)	single nucleotide variant	Benign/Likely benign	rs12045447	GRCh37	Chromosome 1, 220344453: 220344453
10	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala)	single nucleotide variant	Benign/Likely benign	rs12045447	GRCh38	Chromosome 1, 220171111: 220171111
11	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr)	single nucleotide variant	Benign/Likely benign	rs2289189	GRCh37	Chromosome 1, 220331205: 220331205
12	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr)	single nucleotide variant	Benign/Likely benign	rs2289189	GRCh38	Chromosome 1, 220157863: 220157863
13	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=)	single nucleotide variant	Benign/Likely benign	rs11547779	GRCh37	Chromosome 1, 220330672: 220330672
14	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=)	single nucleotide variant	Benign/Likely benign	rs11547779	GRCh38	Chromosome 1, 220157330: 220157330
15	RAB3GAP2	NM_012414.3(RAB3GAP2): c.4060A> G (p.Ile1354Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs59190330	GRCh37	Chromosome 1, 220324715: 220324715
16	RAB3GAP2	NM_012414.3(RAB3GAP2): c.4060A> G (p.Ile1354Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs59190330	GRCh38	Chromosome 1, 220151373: 220151373
17	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3924G> C (p.Thr1308=)	single nucleotide variant	Benign	rs73098539	GRCh37	Chromosome 1, 220325050: 220325050
18	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3924G> C (p.Thr1308=)	single nucleotide variant	Benign	rs73098539	GRCh38	Chromosome 1, 220151708: 220151708
19	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201613456	GRCh37	Chromosome 1, 220356264: 220356264
20	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201613456	GRCh38	Chromosome 1, 220182922: 220182922
21	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe)	single nucleotide variant	Uncertain significance	rs139337049	GRCh37	Chromosome 1, 220355619: 220355619
22	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe)	single nucleotide variant	Uncertain significance	rs139337049	GRCh38	Chromosome 1, 220182277: 220182277
23	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149842844	GRCh37	Chromosome 1, 220324983: 220324983
24	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149842844	GRCh38	Chromosome 1, 220151641: 220151641
25	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2923_2925delCTT	deletion	Benign	rs3217443	GRCh38	Chromosome 1, 220148326: 220148328
26	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2923_2925delCTT	deletion	Benign	rs3217443	GRCh37	Chromosome 1, 220321668: 220321670
27	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2518A> G	single nucleotide variant	Uncertain significance	rs528100310	GRCh38	Chromosome 1, 220148733: 220148733
28	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2518A> G	single nucleotide variant	Uncertain significance	rs528100310	GRCh37	Chromosome 1, 220322075: 220322075
29	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2450G> T	single nucleotide variant	Uncertain significance	rs568052992	GRCh38	Chromosome 1, 220148801: 220148801
30	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2450G> T	single nucleotide variant	Uncertain significance	rs568052992	GRCh37	Chromosome 1, 220322143: 220322143
31	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2347T> C	single nucleotide variant	Uncertain significance	rs886046010	GRCh38	Chromosome 1, 220148904: 220148904
32	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*2347T> C	single nucleotide variant	Uncertain significance	rs886046010	GRCh37	Chromosome 1, 220322246: 220322246
33	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2338_2339delAT	deletion	Uncertain significance	rs886046011	GRCh38	Chromosome 1, 220148912: 220148913
34	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2338_2339delAT	deletion	Uncertain significance	rs886046011	GRCh37	Chromosome 1, 220322254: 220322255
35	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2098_2101delAAAT	deletion	Uncertain significance	rs886046013	GRCh38	Chromosome 1, 220149150: 220149153
36	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2098_2101delAAAT	deletion	Uncertain significance	rs886046013	GRCh37	Chromosome 1, 220322492: 220322495
37	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*1143A> G	single nucleotide variant	Uncertain significance	rs865932881	GRCh38	Chromosome 1, 220150108: 220150108
38	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*1143A> G	single nucleotide variant	Uncertain significance	rs865932881	GRCh37	Chromosome 1, 220323450: 220323450
39	RAB3GAP2	NM_012414.3(RAB3GAP2): c.798_799dupAA	duplication	Uncertain significance	rs374222775	GRCh38	Chromosome 1, 220150452: 220150453
40	RAB3GAP2	NM_012414.3(RAB3GAP2): c.798_799dupAA	duplication	Uncertain significance	rs374222775	GRCh37	Chromosome 1, 220323794: 220323795
41	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*537G> C	single nucleotide variant	Uncertain significance	rs886046015	GRCh38	Chromosome 1, 220150714: 220150714
42	RAB3GAP2	NM_012414.3(RAB3GAP2): c.*537G> C	single nucleotide variant	Uncertain significance	rs886046015	GRCh37	Chromosome 1, 220324056: 220324056
43	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp)	single nucleotide variant	Uncertain significance	rs886046017	GRCh38	Chromosome 1, 220151654: 220151654
44	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp)	single nucleotide variant	Uncertain significance	rs886046017	GRCh37	Chromosome 1, 220324996: 220324996
45	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg)	single nucleotide variant	Uncertain significance	rs151244742	GRCh38	Chromosome 1, 220164744: 220164744
46	RAB3GAP2	NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg)	single nucleotide variant	Uncertain significance	rs151244742	GRCh37	Chromosome 1, 220338086: 220338086
47	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile)	single nucleotide variant	Uncertain significance	rs753147106	GRCh38	Chromosome 1, 220171939: 220171939
48	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile)	single nucleotide variant	Uncertain significance	rs753147106	GRCh37	Chromosome 1, 220345281: 220345281
49	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140146408	GRCh38	Chromosome 1, 220182263: 220182263
50	RAB3GAP2	NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140146408	GRCh37	Chromosome 1, 220355605: 220355605

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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	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶	11.95	RAB18 RAB3GAP1 RAB3GAP2
2	RAB GEFs exchange GTP for GDP on RABs ⁶⁶	11.09	RAB18 RAB3GAP1 RAB3GAP2
3	COPI-independent Golgi-to-ER retrograde traffic ⁶⁶	10.25	RAB18 RAB3GAP1 RAB3GAP2

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	endoplasmic reticulum membrane	GO:0005789	9.13	RAB18 RAB3GAP1 RAB3GAP2
2	endoplasmic reticulum tubular network	GO:0071782	8.62	RAB18 RAB3GAP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of GTPase activity	GO:0043087	9.37	RAB3GAP1 RAB3GAP2
2	lipid droplet organization	GO:0034389	9.32	RAB18 RAB3GAP1
3	positive regulation of autophagosome assembly	GO:2000786	9.26	RAB3GAP1 RAB3GAP2
4	positive regulation of endoplasmic reticulum tubular network organization	GO:1903373	9.16	RAB3GAP1 RAB3GAP2
5	positive regulation of protein lipidation	GO:1903061	8.96	RAB3GAP1 RAB3GAP2
6	establishment of protein localization to endoplasmic reticulum membrane	GO:0097051	8.62	RAB3GAP1 RAB3GAP2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Rab GTPase binding	GO:0017137	8.96	RAB3GAP1 RAB3GAP2
2	Rab guanyl-nucleotide exchange factor activity	GO:0017112	8.62	RAB3GAP1 RAB3GAP2

Sources

Sources for Martsolf Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Martsolf Syndrome:

UMLS symptoms related to Martsolf Syndrome:

Drugs & Therapeutics for Martsolf Syndrome

Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

Anatomical Context for Martsolf Syndrome

MalaCards organs/tissues related to Martsolf Syndrome:

Publications for Martsolf Syndrome

Articles related to Martsolf Syndrome:

Genes for Martsolf Syndrome

Genes related to Martsolf Syndrome (2 elite genes):

Variations for Martsolf Syndrome

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

ClinVar 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