MCID: MRN003
MIFTS: 37

Marinesco-Sjogren Syndrome 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 50 46 23 12 48 66
Marinesco-Sjögren Syndrome 22 24 52 25
Mss 46 24 68
Marinesco-Garland Syndrome 46 24
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 46
 
Hereditary Oligophrenic Cerebello-Lental Degeneration 24
Marinesco-Sjogren Syndrome-Myopathy 46
Marinesco-Sjogren-Garland Syndrome 46
Marinesco-Sjoegren Syndrome 68
Garland-Moorhouse Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
marinesco-sjogren syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 248800
Orphanet52 ORPHA559
UMLS via Orphanet67 C0024814
ICD10 via Orphanet29 G11.1
MedGen35 C0024814

Summaries for Marinesco-Sjogren Syndrome

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OMIM:50 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 short-rib thoracic dysplasia 9 with or without polydactyly and marshall-smith syndrome, and has symptoms including abnormality of the genital system, strabismus and cataract. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor). Affiliated tissues include eye, skeletal muscle and bone, and related mouse phenotype behavior/neurological.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life.

Wikipedia:69 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

GeneReviews summary 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
1short-rib thoracic dysplasia 9 with or without polydactyly10.9
2marshall-smith syndrome10.9
3cataract10.3
4congenital cataracts, facial dysmorphism, and neuropathy10.3
5myopathy10.3
6colorectal cancer10.2
7cerebrotendinous xanthomatosis10.2
8cerebellar ataxia10.1
9ataxia10.1
10corneal dystrophy, groenouw type i8.9OPA3, PHB2, SIL1

Graphical network of diseases related to Marinesco-Sjogren Syndrome:



Diseases related to marinesco-sjogren syndrome

Symptoms for Marinesco-Sjogren Syndrome

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Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

HPO human phenotypes related to Marinesco-Sjogren Syndrome:

(show all 53)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 strabismus hallmark (90%) HP:0000486
3 cataract hallmark (90%) HP:0000518
4 muscular hypotonia hallmark (90%) HP:0001252
5 neurological speech impairment hallmark (90%) HP:0002167
6 incoordination hallmark (90%) HP:0002311
7 myopathy hallmark (90%) HP:0003198
8 short stature hallmark (90%) HP:0004322
9 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
10 cognitive impairment hallmark (90%) HP:0100543
11 nystagmus typical (50%) HP:0000639
12 pectus carinatum typical (50%) HP:0000768
13 brachydactyly syndrome typical (50%) HP:0001156
14 abnormality of the metacarpal bones typical (50%) HP:0001163
15 hypertonia typical (50%) HP:0001276
16 muscle weakness typical (50%) HP:0001324
17 talipes typical (50%) HP:0001883
18 scoliosis typical (50%) HP:0002650
19 skeletal muscle atrophy typical (50%) HP:0003202
20 abnormality of the hip bone typical (50%) HP:0003272
21 abnormality of movement typical (50%) HP:0100022
22 microcephaly occasional (7.5%) HP:0000252
23 optic atrophy occasional (7.5%) HP:0000648
24 reduced tendon reflexes occasional (7.5%) HP:0001315
25 peripheral neuropathy occasional (7.5%) HP:0009830
26 microcephaly HP:0000252
27 strabismus HP:0000486
28 congenital cataract HP:0000519
29 nystagmus HP:0000639
30 hypergonadotropic hypogonadism HP:0000815
31 intellectual disability HP:0001249
32 muscular hypotonia HP:0001252
33 spasticity HP:0001257
34 dysarthria HP:0001260
35 global developmental delay HP:0001263
36 flexion contracture HP:0001371
37 failure to thrive HP:0001508
38 pes planus HP:0001763
39 gait ataxia HP:0002066
40 limb ataxia HP:0002070
41 scoliosis HP:0002650
42 coxa valga HP:0002673
43 kyphosis HP:0002808
44 cubitus valgus HP:0002967
45 myopathy HP:0003198
46 skeletal muscle atrophy HP:0003202
47 elevated serum creatine phosphokinase HP:0003236
48 progressive muscle weakness HP:0003323
49 centrally nucleated skeletal muscle fibers HP:0003687
50 short stature HP:0004322
51 cerebellar cortical atrophy HP:0008278
52 short metacarpal HP:0010049
53 short metatarsal 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 Syndrome25
2 Marinesco-Sjogren Syndrome23 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

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MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

34
Eye, Skeletal muscle, Bone, Cerebellum

Animal Models for Marinesco-Sjogren Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marinesco-Sjogren Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5OPA3, PHB2, SIL1

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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SIL1NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter)single nucleotide variantPathogenicrs774441811GRCh37Chr 5, 138362675: 138362675
2SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenic
3SIL1NM_022464.4(SIL1): c.645+1G> Asingle nucleotide variantPathogenicrs794726659GRCh37Chr 5, 138362489: 138362489
4SIL1NM_022464.4(SIL1): c.645+2T> Csingle nucleotide variantPathogenicrs548535414GRCh38Chr 5, 139026799: 139026799
5SIL1NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
6SIL1NM_022464.4(SIL1): c.865_1029delsingle nucleotide variantPathogenicrs777752978GRCh38Chr 5, 138951170: 138951170
7SIL1NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
8SIL1NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro)single nucleotide variantPathogenicrs119456967GRCh37Chr 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

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet