MCID: MRN003
MIFTS: 38

Marinesco-Sjogren Syndrome

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

Aliases & Classifications for Marinesco-Sjogren Syndrome

MalaCards integrated aliases for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 53 12 49 36 13 51 69 23 24 55 28
Mss 53 49 24 71
Marinesco-Garland Syndrome 12 49 24
Hereditary Oligophrenic Cerebello-Lental Degeneration 12 24
Garland-Moorhouse Syndrome 12 24
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 49
Marinesco-Sjogren Syndrome-Myopathy 49
Marinesco-Sjogren-Garland Syndrome 49
Marinesco-Sjoegren Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
marinesco-sjögren syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
marinesco-sjogren syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Marinesco-Sjogren Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 559Disease definitionMarinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenitalcataract, and delayed psychomotor development.EpidemiologyPrevalence is most likely below 1 to 9/1 000 000. Disease onset occurs in infancy.Clinical descriptionDysarthria, nystagmus, muscle weakness and hypotonia are frequent symptoms. Areflexia is associated with a demyelinating peripheral neuropathy. Some patients show episodes of rhabdomyolysis with sustained or episodic elevation of serum creatin kinase. Hypergonadotropic hypogonadism is a frequently associated feature. Muscle pathology consists of extensive neurogenic atrophy and myopathic changes with rimmed vacuoles. Cerebellar cortical atrophy with vacuolated or binuclear Purkinje cells is also observed.EtiologyIt has been suggested that the MSS with myoglobinuria and congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndromes are genetically identical as they both map to chromosome 18qter. In contrast, a locus for classical MSS has been assigned to chromosome 5q31 and mutations have recently been identified in SIL1, a gene encoding a factor involved in proper protein folding. Loss of SIL1 function results in accumulation of unfolded proteins, harmful to the cell.Diagnostic methodsDiagnosis is based on clinical symptoms. Ophthalmologic examination should be performed to detect cataracts and MRI (Magnetic Resonance Imaging) scan allows investigation of cerebellar atrophy particularly involving the vermis. Muscle biopsy findings are generally non-specific.Antenatal diagnosisPrenatal diagnosis with molecular genetic techniques can be performed if a mutation is known in the family.Management and treatmentTreatment is symptomatic. Cataracts often require surgical removal to preserve vision. Hormonal replacement therapy may be needed if hypogonadism is present. Physical and occupational therapy are crucial.PrognosisPatients can survive to old age, with varying disability.Visit the Orphanet disease page for more resources. Last updated: 6/6/2006

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

Disease Ontology : 12 An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.

OMIM : 53 Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; 604168), which is caused by mutation in the CTDP1 gene (604927) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (Lagier-Tourenne et al., 2003). (248800)

UniProtKB/Swiss-Prot : 71 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 : 72 Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal... 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cataract 29.3 OPA3 SIL1
2 congenital cataracts, facial dysmorphism, and neuropathy 11.3
3 gillespie syndrome 11.3
4 mesomelia-synostoses syndrome 11.2
5 short-rib thoracic dysplasia 9 with or without polydactyly 10.9
6 marshall-smith syndrome 10.9
7 multiple synostoses syndrome 1 10.9
8 sjogren syndrome 10.5
9 myopathy 10.2
10 ataxia and polyneuropathy, adult-onset 10.0
11 aceruloplasminemia 10.0
12 ataxia-oculomotor apraxia 3 10.0

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
cerebellar ataxia
gait ataxia
spasticity
dysarthria
limb ataxia
more
Growth Other:
failure to thrive
growth retardation

Head And Neck Head:
microcephaly

Skeletal Limbs:
coxa valga
cubitus valgus

Skeletal Hands:
short metacarpals

Laboratory Abnormalities:
increased serum creatine kinase

Endocrine Features:
hypergonadotrophic hypogonadism

Head And Neck Eyes:
nystagmus
strabismus
congenital cataracts

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia
muscle atrophy
muscle weakness, progressive
emg shows myopathic changes
type 1 fiber predominance
more
Skeletal Feet:
short metatarsals
pes planovalgus

Skeletal:
skeletal deformities due to severe myopathy and hypotonia


Clinical features from OMIM:

248800

Human phenotypes related to Marinesco-Sjogren Syndrome:

55 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
7 dysphonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001618
8 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
9 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
10 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
11 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
12 pectus carinatum 55 31 frequent (33%) Frequent (79-30%) HP:0000768
13 dyskinesia 55 31 frequent (33%) Frequent (79-30%) HP:0100660
14 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
16 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
17 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
18 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
19 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
20 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673
21 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
22 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
23 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
24 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
25 cerebellar hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001321
26 rigidity 55 31 frequent (33%) Frequent (79-30%) HP:0002063
27 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
28 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
29 abnormal lactate dehydrogenase activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0045040
30 areflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001284
31 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
32 hyporeflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001265
33 abnormality of finger 55 31 frequent (33%) Frequent (79-30%) HP:0001167
34 metatarsus valgus 55 31 frequent (33%) Frequent (79-30%) HP:0010508
35 muscular dystrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003560
36 avascular necrosis of the capital femoral epiphysis 55 31 frequent (33%) Frequent (79-30%) HP:0005743
37 muscle flaccidity 55 31 frequent (33%) Frequent (79-30%) HP:0010547
38 abnormality of the cerebellar vermis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002334
39 muscle stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0003552
40 aplasia/hypoplasia involving the skeletal musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0001460
41 external genital hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003241
42 abnormal aldolase level 55 31 hallmark (90%) Very frequent (99-80%) HP:0012400
43 abnormal levels of creatine kinase in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0040081
44 gait ataxia 31 HP:0002066
45 failure to thrive 31 HP:0001508
46 neurological speech impairment 55 Very frequent (99-80%)
47 kyphosis 31 HP:0002808
48 pes planus 31 HP:0001763
49 short stature 31 HP:0004322
50 hypertonia 55 Frequent (79-30%)

UMLS symptoms related to Marinesco-Sjogren Syndrome:


gait ataxia, muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Marinesco-Sjögren Syndrome 28 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

38
Skeletal Muscle, Bone, Eye

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIL1 NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs774441811 GRCh37 Chromosome 5, 138362675: 138362675
2 SIL1 SIL1, 4-BP DUP, 506AAGA duplication Pathogenic
3 SIL1 NM_022464.4(SIL1): c.645+1G> A single nucleotide variant Pathogenic rs794726659 GRCh38 Chromosome 5, 139026800: 139026800
4 SIL1 NM_022464.4(SIL1): c.645+2T> C single nucleotide variant Pathogenic rs548535414 GRCh37 Chromosome 5, 138362488: 138362488
5 SIL1 NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs119456965 GRCh37 Chromosome 5, 138386649: 138386649
6 SIL1 NM_022464.4(SIL1): c.865_1029del single nucleotide variant Pathogenic rs777752978 GRCh38 Chromosome 5, 138951170: 138951170
7 SIL1 NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs119456966 GRCh37 Chromosome 5, 138282880: 138282880
8 SIL1 NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro) single nucleotide variant Pathogenic rs119456967 GRCh37 Chromosome 5, 138282822: 138282822
9 SIL1 NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs) duplication Pathogenic rs587776544 GRCh38 Chromosome 5, 138951264: 138951264
10 SIL1 NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs) deletion Pathogenic rs869320725 GRCh38 Chromosome 5, 139026839: 139026843
11 SIL1 NC_000005.10: g.138975444_139033712del58269 deletion Pathogenic GRCh38 Chromosome 5, 138975444: 139033712
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

Pathways related to Marinesco-Sjogren Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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