MCID: MRN003
MIFTS: 35

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 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 short-rib thoracic dysplasia 9 with or without polydactyly, 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.

Genetics Home Reference:25 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.

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
2short-rib thoracic dysplasia 9 with or without polydactyly11.1
3marshall-smith syndrome11.1
4cataract10.2
5myopathy10.1
6cerebellar ataxia10.0
7ataxia10.0
8corneal dystrophy, groenouw type i9.5OPA3, 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 45)
id Description HPO Frequency HPO Source Accession
1 abnormality of the genital system64 hallmark (90%) HP:0000078
2 strabismus64 hallmark (90%) HP:0000486
3 cataract64 hallmark (90%) HP:0000518
4 muscular hypotonia64 hallmark (90%) HP:0001252
5 neurological speech impairment64 hallmark (90%) HP:0002167
6 incoordination64 hallmark (90%) HP:0002311
7 myopathy64 hallmark (90%) HP:0003198
8 short stature64 hallmark (90%) HP:0004322
9 aplasia/hypoplasia of the cerebellum64 hallmark (90%) HP:0007360
10 cognitive impairment64 hallmark (90%) HP:0100543
11 nystagmus64 typical (50%) HP:0000639
12 pectus carinatum64 typical (50%) HP:0000768
13 brachydactyly syndrome64 typical (50%) HP:0001156
14 abnormality of the metacarpal bones64 typical (50%) HP:0001163
15 hypertonia64 typical (50%) HP:0001276
16 muscle weakness64 typical (50%) HP:0001324
17 talipes64 typical (50%) HP:0001883
18 scoliosis64 typical (50%) HP:0002650
19 skeletal muscle atrophy64 typical (50%) HP:0003202
20 abnormality of the hip bone64 typical (50%) HP:0003272
21 abnormality of movement64 typical (50%) HP:0100022
22 microcephaly64 occasional (7.5%) HP:0000252
23 optic atrophy64 occasional (7.5%) HP:0000648
24 reduced tendon reflexes64 occasional (7.5%) HP:0001315
25 peripheral neuropathy64 occasional (7.5%) HP:0009830
26 congenital cataract64 HP:0000519
27 hypergonadotropic hypogonadism64 HP:0000815
28 intellectual disability64 HP:0001249
29 spasticity64 HP:0001257
30 dysarthria64 HP:0001260
31 global developmental delay64 HP:0001263
32 flexion contracture64 HP:0001371
33 failure to thrive64 HP:0001508
34 pes planus64 HP:0001763
35 gait ataxia64 HP:0002066
36 limb ataxia64 HP:0002070
37 coxa valga64 HP:0002673
38 kyphosis64 HP:0002808
39 cubitus valgus64 HP:0002967
40 elevated serum creatine phosphokinase64 HP:0003236
41 progressive muscle weakness64 HP:0003323
42 centrally nucleated skeletal muscle fibers64 HP:0003687
43 cerebellar cortical atrophy64 HP:0008278
44 short metacarpal64 HP:0010049
45 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
Eye, Skeletal muscle, Bone, Cerebellum

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, 506AAGAduplicationPathogenicChr na, -1: -1
3SIL1NM_022464.4(SIL1): c.645+1G> ASNVPathogenicrs794726659GRCh37Chr 5, 138362489: 138362489
4SIL1NM_022464.4(SIL1): c.645+2T> CSNVPathogenicrs548535414GRCh37Chr 5, 138362488: 138362488
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)deletionPathogenicrs869320725GRCh38Chr 5, 139026839: 139026843
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