MSS
MCID: MRN003
MIFTS: 33

Marinesco-Sjogren Syndrome (MSS) malady

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

Aliases & Classifications for Marinesco-Sjogren Syndrome

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Aliases & Descriptions for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 52 48 24 12 50 68
Marinesco-Sjögren Syndrome 23 25 54 27
Mss 48 25 70
Marinesco-Garland Syndrome 48 25
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 48
 
Hereditary Oligophrenic Cerebello-Lental Degeneration 25
Marinesco-Sjogren Syndrome-Myopathy 48
Marinesco-Sjogren-Garland Syndrome 48
Marinesco-Sjoegren Syndrome 70
Garland-Moorhouse Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
marinesco-sjogren syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 248800
Orphanet54 ORPHA559
ICD10 via Orphanet31 G11.1
UMLS via Orphanet69 C0024814
MedGen37 C0024814

Summaries for Marinesco-Sjogren Syndrome

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OMIM:52 Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts,... (248800) more...

MalaCards based summary: Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to congenital cataracts, facial dysmorphism, and neuropathy and cataract, and has symptoms including cerebellar ataxia, cerebellar ataxia and muscle spasticity. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor). Affiliated tissues include skeletal muscle and eye.

UniProtKB/Swiss-Prot:70 Marinesco-Sjoegren syndrome: Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress-induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS.

Wikipedia:71 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

GeneReviews for NBK1192

Related Diseases for Marinesco-Sjogren Syndrome

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Diseases in the Marinesco-Sjogren Syndrome family:

Marinesco-Sjogren-Like Syndrome

Diseases related to Marinesco-Sjogren Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital cataracts, facial dysmorphism, and neuropathy11.2
2cataract10.2
3myopathy10.1
4cerebrotendinous xanthomatosis10.1
5cerebellar ataxia10.0
6ataxia10.0
7benign lymphoepithelial lesion of salivary gland9.8OPA3, SIL1
8corneal dystrophy, lattice type i9.7OPA3, SIL1

Graphical network of diseases related to Marinesco-Sjogren Syndrome:



Diseases related to marinesco-sjogren syndrome

Symptoms & Phenotypes for Marinesco-Sjogren Syndrome

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Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

Human phenotypes related to Marinesco-Sjogren Syndrome:

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 strabismus64 HP:0000486
3 congenital cataract64 HP:0000519
4 nystagmus64 HP:0000639
5 hypergonadotropic hypogonadism64 HP:0000815
6 intellectual disability64 HP:0001249
7 muscular hypotonia64 HP:0001252
8 spasticity64 HP:0001257
9 dysarthria64 HP:0001260
10 global developmental delay64 HP:0001263
11 flexion contracture64 HP:0001371
12 failure to thrive64 HP:0001508
13 pes planus64 HP:0001763
14 gait ataxia64 HP:0002066
15 limb ataxia64 HP:0002070
16 scoliosis64 HP:0002650
17 coxa valga64 HP:0002673
18 kyphosis64 HP:0002808
19 cubitus valgus64 HP:0002967
20 myopathy64 HP:0003198
21 skeletal muscle atrophy64 HP:0003202
22 elevated serum creatine phosphokinase64 HP:0003236
23 progressive muscle weakness64 HP:0003323
24 centrally nucleated skeletal muscle fibers64 HP:0003687
25 short stature64 HP:0004322
26 cerebellar cortical atrophy64 HP:0008278
27 short metacarpal64 HP:0010049
28 short metatarsal64 HP:0010743

UMLS symptoms related to Marinesco-Sjogren Syndrome:


cerebellar ataxia, muscle spasticity, gait ataxia

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Marinesco-Sjogren Syndrome

Genetic Tests for Marinesco-Sjogren Syndrome

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Genetic tests related to Marinesco-Sjogren Syndrome:

id Genetic test Affiliating Genes
1 Marinesco-Sjögren Syndrome27
2 Marinesco-Sjogren Syndrome24 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

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MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

36
Skeletal muscle, Eye

Publications for Marinesco-Sjogren Syndrome

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Articles related to Marinesco-Sjogren Syndrome:

idTitleAuthorsYear
1
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. (24176978)
2013
2
Marinesco-Sjogren syndrome, fanfare, and more. (18207737)
2008
3
Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation? (9179171)
1997
4
Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. (8907346)
1996
5
Myopathy in Marinesco-Sjogren syndrome. (3469098)
1987
6
Two cases of Marinesco-Sjogren syndrome. (711664)
1978
7
Marinesco-Sjogren syndrome with myopathy. (5386591)
1969
8
The Marinesco-Sjogren syndrome. Hereditary cerebello-lental degeneration with mental retardation. (5658670)
1968
9
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. (14012309)
1962
10
On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms]. (13703570)
1961

Variations for Marinesco-Sjogren Syndrome

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Clinvar genetic disease variations for Marinesco-Sjogren Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SIL1NM_ 001037633.1(SIL1): c.460C> T (p.Gln154Ter)SNVPathogenicrs774441811GRCh37Chr 5, 138362675: 138362675
2SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenic
3SIL1NM_ 022464.4(SIL1): c.645+1G> ASNVPathogenicrs794726659GRCh37Chr 5, 138362489: 138362489
4SIL1NM_ 022464.4(SIL1): c.645+2T> CSNVPathogenicrs548535414GRCh38Chr 5, 139026799: 139026799
5SIL1NM_ 001037633.1(SIL1): c.331C> T (p.Arg111Ter)SNVPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
6SIL1NM_ 022464.4(SIL1): c.865_ 1029delSNVPathogenicrs777752978GRCh38Chr 5, 138951170: 138951170
7SIL1NM_ 001037633.1(SIL1): c.1312C> T (p.Gln438Ter)SNVPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
8SIL1NM_ 001037633.1(SIL1): c.1370T> C (p.Leu457Pro)SNVPathogenicrs119456967GRCh37Chr 5, 138282822: 138282822
9SIL1NM_ 001037633.1(SIL1): c.936dupG (p.Leu313Alafs)duplicationPathogenicrs587776544GRCh38Chr 5, 138951264: 138951264
10SIL1NM_ 001037633.1(SIL1): c.603_ 607delGAAGA (p.Glu201Aspfs)deletionPathogenicrs869320725GRCh37Chr 5, 138362528: 138362532
11SIL1NC_ 000005.10: g.138975444_ 139033712del58269deletionPathogenicGRCh38Chr 5, 138975444: 139033712
12SIL1NM_ 001037633.1(SIL1): c.1205delG (p.Gly402Alafs)deletionPathogenicrs886043087GRCh37Chr 5, 138282987: 138282987

Expression for genes affiliated with Marinesco-Sjogren Syndrome

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Search GEO for disease gene expression data for Marinesco-Sjogren Syndrome.

Pathways for genes affiliated with Marinesco-Sjogren Syndrome

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GO Terms for genes affiliated with Marinesco-Sjogren Syndrome

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Sources for Marinesco-Sjogren Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet