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

Aliases & Descriptions for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 54 50 24 13 52 69 23 25 56 29
Mss 50 25 66
Marinesco-Garland Syndrome 50 25
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 50
Hereditary Oligophrenic Cerebello-Lental Degeneration 25
Marinesco-Sjogren Syndrome-Myopathy 50
Marinesco-Sjogren-Garland Syndrome 50
Marinesco-Sjoegren Syndrome 66
Garland-Moorhouse Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
marinesco-sjögren syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
marinesco-sjogren syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 248800
Orphanet 56 ORPHA559
ICD10 via Orphanet 34 G11.1
UMLS via Orphanet 70 C0024814
MedGen 40 C0024814

Summaries for Marinesco-Sjogren Syndrome

OMIM : 54 Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts,... (248800) more...

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

UniProtKB/Swiss-Prot : 66 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... more...

GeneReviews: NBK1192

Related Diseases for Marinesco-Sjogren Syndrome

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:

id Related Disease Score Top Affiliating Genes
1 congenital cataracts, facial dysmorphism, and neuropathy 11.2
2 cataract 10.2
3 myopathy 10.1
4 cerebrotendinous xanthomatosis 10.1
5 ataxia 10.0
6 cerebellar ataxia 10.0
7 benign lymphoepithelial lesion of salivary gland 9.8 OPA3 SIL1
8 corneal dystrophy, lattice type i 9.7 OPA3 SIL1

Graphical network of the top 20 diseases related to Marinesco-Sjogren Syndrome:



Diseases related to Marinesco-Sjogren Syndrome

Symptoms & Phenotypes for Marinesco-Sjogren Syndrome

Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

Human phenotypes related to Marinesco-Sjogren Syndrome:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 gait ataxia 32 HP:0002066
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 muscular hypotonia 32 HP:0001252
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 failure to thrive 32 HP:0001508
8 scoliosis 32 HP:0002650
9 kyphosis 32 HP:0002808
10 global developmental delay 32 HP:0001263
11 pes planus 32 HP:0001763
12 microcephaly 32 HP:0000252
13 short stature 32 HP:0004322
14 flexion contracture 32 HP:0001371
15 myopathy 32 HP:0003198
16 elevated serum creatine phosphokinase 32 HP:0003236
17 skeletal muscle atrophy 32 HP:0003202
18 strabismus 32 HP:0000486
19 coxa valga 32 HP:0002673
20 cubitus valgus 32 HP:0002967
21 limb ataxia 32 HP:0002070
22 hypergonadotropic hypogonadism 32 HP:0000815
23 short metacarpal 32 HP:0010049
24 short metatarsal 32 HP:0010743
25 progressive muscle weakness 32 HP:0003323
26 congenital cataract 32 HP:0000519
27 cerebellar cortical atrophy 32 HP:0008278
28 centrally nucleated skeletal muscle fibers 32 HP:0003687

UMLS symptoms related to Marinesco-Sjogren Syndrome:


cerebellar ataxia, muscle spasticity, gait ataxia

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Marinesco-Sjogren Syndrome

Genetic Tests for Marinesco-Sjogren Syndrome

Genetic tests related to Marinesco-Sjogren Syndrome:

id Genetic test Affiliating Genes
1 Marinesco-Sjögren Syndrome 29
2 Marinesco-Sjogren Syndrome 24 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

39
Skeletal Muscle, Eye

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Marinesco-Sjogren Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 SIL1 SIL1, 4-BP DUP, 506AAGA duplication Pathogenic
2 SIL1 NM_022464.4(SIL1): c.645+1G> A single nucleotide variant Pathogenic rs794726659 GRCh37 Chromosome 5, 138362489: 138362489
3 SIL1 NM_022464.4(SIL1): c.645+2T> C single nucleotide variant Pathogenic rs548535414 GRCh38 Chromosome 5, 139026799: 139026799
4 SIL1 NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs119456965 GRCh37 Chromosome 5, 138386649: 138386649
5 SIL1 NM_022464.4(SIL1): c.865_1029del single nucleotide variant Pathogenic rs777752978 GRCh38 Chromosome 5, 138951170: 138951170
6 SIL1 NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs119456966 GRCh37 Chromosome 5, 138282880: 138282880
7 SIL1 NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro) single nucleotide variant Pathogenic rs119456967 GRCh37 Chromosome 5, 138282822: 138282822
8 SIL1 NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs) duplication Pathogenic rs587776544 GRCh38 Chromosome 5, 138951264: 138951264
9 SIL1 NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs) deletion Pathogenic rs869320725 GRCh37 Chromosome 5, 138362528: 138362532
10 SIL1 NC_000005.10: g.138975444_139033712del58269 deletion Pathogenic GRCh38 Chromosome 5, 138975444: 139033712
11 SIL1 NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs774441811 GRCh37 Chromosome 5, 138362675: 138362675
12 SIL1 NM_001037633.1(SIL1): c.1205delG (p.Gly402Alafs) deletion Pathogenic rs886043087 GRCh37 Chromosome 5, 138282987: 138282987

Expression for Marinesco-Sjogren Syndrome

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

Pathways for Marinesco-Sjogren Syndrome

GO Terms for Marinesco-Sjogren Syndrome

Sources for Marinesco-Sjogren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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