MCID: MRN003
MIFTS: 40

Marinesco-Sjogren Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases categories

Aliases & Classifications for Marinesco-Sjogren Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 65UMLS, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 49 11 45 47 65
Marinesco-Sjögren Syndrome 21 22 23 51 24
Mss 45 23 67
Marinesco-Garland Syndrome 45 23
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 45
 
Hereditary Oligophrenic Cerebello-Lental Degeneration 23
Marinesco-Sjogren Syndrome-Myopathy 45
Marinesco-Sjogren-Garland Syndrome 45
Marinesco-Sjoegren Syndrome 67
Garland-Moorhouse Syndrome 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 248800
Orphanet51 559
ICD10 via Orphanet28 G11.1
UMLS via Orphanet66 C0024814
MedGen34 C0024814

Summaries for Marinesco-Sjogren Syndrome

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OMIM:49 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 cataract and myopathy, 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.

Genetics Home Reference:23 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:67 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:68 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

GeneReviews summary for mss

Related Diseases for Marinesco-Sjogren Syndrome

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Graphical network of the top 20 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

Symptoms:

 51 (show all 27)
  • cataract/lens opacification
  • strabismus/squint
  • late puberty/hypogonadism/hypogenitalism
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • nystagmus
  • pectus carinatum
  • scoliosis
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • talipes-valgus
  • hyperkinesia/dyskinesia
  • hypertonia/spasticity/rigidity/stiffness
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • microcephaly
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • peripheral neuropathy
  • areflexia/hyporeflexia

HPO human phenotypes related to Marinesco-Sjogren Syndrome:

(show all 55)
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 autosomal recessive inheritance HP:0000007
27 microcephaly HP:0000252
28 strabismus HP:0000486
29 congenital cataract HP:0000519
30 nystagmus HP:0000639
31 hypergonadotropic hypogonadism HP:0000815
32 intellectual disability HP:0001249
33 muscular hypotonia HP:0001252
34 spasticity HP:0001257
35 dysarthria HP:0001260
36 global developmental delay HP:0001263
37 flexion contracture HP:0001371
38 failure to thrive HP:0001508
39 pes planus HP:0001763
40 gait ataxia HP:0002066
41 limb ataxia HP:0002070
42 scoliosis HP:0002650
43 coxa valga HP:0002673
44 kyphosis HP:0002808
45 cubitus valgus HP:0002967
46 myopathy HP:0003198
47 skeletal muscle atrophy HP:0003202
48 elevated serum creatine phosphokinase HP:0003236
49 progressive muscle weakness HP:0003323
50 infantile onset HP:0003593
51 centrally nucleated skeletal muscle fibers HP:0003687
52 short stature HP:0004322
53 cerebellar cortical atrophy HP:0008278
54 short metacarpal HP:0010049
55 short metatarsal HP:0010743

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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-Sjogren Syndrome22 SIL1
2 Marinesco-Sjögren Syndrome24

Anatomical Context for Marinesco-Sjogren Syndrome

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MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

33
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:

38
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
10SIL1SIL1, 5-BP DEL, 598GAAGAdeletionPathogenic
11SIL1NC_000005.10: g.138975444_139033712deldeletionPathogenicGRCh38Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet