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

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:



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

Related Diseases for Martsolf Syndrome

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



Diseases related to Martsolf Syndrome

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

Drugs & Therapeutics for Martsolf Syndrome

Search Clinical Trials , NIH Clinical Center for Martsolf Syndrome

Genetic Tests for Martsolf Syndrome

Genetic tests related to Martsolf Syndrome:

# Genetic test Affiliating Genes
1 Martsolf Syndrome 29 RAB3GAP2

Anatomical Context for Martsolf Syndrome

MalaCards organs/tissues related to Martsolf Syndrome:

41
Heart, Eye, Tongue, Brain, Liver

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 )
2013
3
Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. ( 18413245 )
2008
4
Martsolf syndrome in Japanese siblings. ( 17394201 )
2007
5
A new case of Martsolf syndrome. ( 17515302 )
2007
6
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. ( 16532399 )
2006
7
Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. ( 3409931 )
1988

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

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
11.95 RAB18 RAB3GAP1 RAB3GAP2
2 11.09 RAB18 RAB3GAP1 RAB3GAP2
3 10.25 RAB18 RAB3GAP1 RAB3GAP2

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 for Martsolf Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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