MSS
MCID: MRN003
MIFTS: 41

Marinesco-Sjogren Syndrome (MSS)

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

Aliases & Classifications for Marinesco-Sjogren Syndrome

MalaCards integrated aliases for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 57 12 53 37 13 55 15 40 73
Marinesco-Sjögren Syndrome 24 25 59 29 6
Mss 57 53 25 75
Marinesco-Garland Syndrome 12 53 25
Hereditary Oligophrenic Cerebello-Lental Degeneration 12 25
Garland-Moorhouse Syndrome 12 25
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 53
Oligophrenic Cerebellolenticular Degeneration 12
Marinesco-Sjogren Syndrome-Myopathy 53
Marinesco-Sjogren-Garland Syndrome 53
Marinesco-Sjoegren Syndrome 75
Marinescosj�gren Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
marinesco-sjögren syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:



Summaries for Marinesco-Sjogren Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to cataract and 3-methylglutaconic aciduria, type iii, and has symptoms including gait ataxia, cerebellar ataxia and muscle spasticity. 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 eye, bone and skeletal muscle, and related phenotypes are nystagmus and intellectual disability

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

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.

OMIM : 57 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 : 75 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 : 76 Marinesco�??Sjögren syndrome (MSS), sometimes spelled Marinescu�??Sjögren syndrome, is a rare autosomal... more...

GeneReviews: NBK1192

Related Diseases for Marinesco-Sjogren Syndrome

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:

57
Head And Neck Eyes:
nystagmus
strabismus
congenital cataracts

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

Neurologic Central Nervous System:
spasticity
dysarthria
gait ataxia
limb ataxia
cerebellar atrophy
more
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:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
7 dysphonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001618
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
12 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
13 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
14 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
15 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
16 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
17 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
18 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
19 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
20 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
21 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
22 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
23 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
24 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
25 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
26 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
27 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
28 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
29 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
30 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
31 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
32 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
33 abnormality of finger 59 32 frequent (33%) Frequent (79-30%) HP:0001167
34 metatarsus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0010508
35 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
36 avascular necrosis of the capital femoral epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0005743
37 abnormal levels of creatine kinase in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0040081
38 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
39 muscle flaccidity 59 32 frequent (33%) Frequent (79-30%) HP:0010547
40 abnormality of the cerebellar vermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002334
41 aplasia/hypoplasia involving the skeletal musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001460
42 external genital hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003241
43 abnormal aldolase level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012400
44 failure to thrive 32 HP:0001508
45 neurological speech impairment 59 Very frequent (99-80%)
46 kyphosis 32 HP:0002808
47 pes planus 32 HP:0001763
48 short stature 32 HP:0004322
49 hypertonia 59 Frequent (79-30%)
50 flexion contracture 32 HP:0001371

UMLS symptoms related to Marinesco-Sjogren Syndrome:


gait ataxia, cerebellar ataxia, muscle spasticity

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 29 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

41
Eye, Bone, Skeletal Muscle, Cortex

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

(show all 23)
# Title Authors Year
1
Neuroprotective modulation of the unfolded protein response in Marinesco-Sjögren syndrome: PERK signaling inhibition and beyond. ( 30531072 )
2019
2
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. ( 28190459 )
2017
3
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation. ( 25982182 )
2015
4
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. ( 24176978 )
2013
5
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype. ( 23062754 )
2013
6
Marinesco-Sjogren syndrome, fanfare, and more. ( 18207737 )
2008
7
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. ( 18285827 )
2008
8
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. ( 18395226 )
2008
9
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. ( 16282978 )
2005
10
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome. ( 15623732 )
2004
11
Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation? ( 9179171 )
1997
12
Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome. ( 9386772 )
1997
13
Marinesco Sjogren syndrome : a case report. ( 29509156 )
1997
14
Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. ( 8907346 )
1996
15
General anesthesia for Marinesco-Sjögren syndrome. ( 28921150 )
1994
16
Marinesco-Sjögren syndrome: report of one case. ( 1514415 )
1992
17
Myopathy in Marinesco-Sjogren syndrome. ( 3469098 )
1987
18
Two cases of Marinesco-Sjogren syndrome. ( 711664 )
1978
19
Possible linkage between the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. ( 1024623 )
1976
20
Marinesco-Sjogren syndrome with myopathy. ( 5386591 )
1969
21
The Marinesco-Sjogren syndrome. Hereditary cerebello-lental degeneration with mental retardation. ( 5658670 )
1968
22
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. ( 14012309 )
1962
23
[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 top 50) (show all 86)
# 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+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 GRCh38 Chromosome 5, 139026799: 139026799
5 SIL1 NM_022464.4(SIL1): c.645+2T> C single nucleotide variant Pathogenic rs548535414 GRCh37 Chromosome 5, 138362488: 138362488
6 SIL1 NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs119456965 GRCh37 Chromosome 5, 138386649: 138386649
7 SIL1 NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs119456965 GRCh38 Chromosome 5, 139050960: 139050960
8 SIL1 NM_022464.4(SIL1): c.865_1029del single nucleotide variant Pathogenic rs777752978 GRCh38 Chromosome 5, 138951170: 138951170
9 SIL1 NM_022464.4(SIL1): c.865_1029del single nucleotide variant Pathogenic rs777752978 GRCh37 Chromosome 5, 138286859: 138286859
10 SIL1 NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs119456966 GRCh37 Chromosome 5, 138282880: 138282880
11 SIL1 NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs119456966 GRCh38 Chromosome 5, 138947191: 138947191
12 SIL1 NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro) single nucleotide variant Pathogenic rs119456967 GRCh37 Chromosome 5, 138282822: 138282822
13 SIL1 NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro) single nucleotide variant Pathogenic rs119456967 GRCh38 Chromosome 5, 138947133: 138947133
14 SIL1 NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs) duplication Pathogenic rs587776544 GRCh38 Chromosome 5, 138951264: 138951264
15 SIL1 NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs) duplication Pathogenic rs587776544 GRCh37 Chromosome 5, 138286953: 138286953
16 SIL1 NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs) deletion Pathogenic rs869320725 GRCh37 Chromosome 5, 138362528: 138362532
17 SIL1 NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs) deletion Pathogenic rs869320725 GRCh38 Chromosome 5, 139026839: 139026843
18 SIL1 NC_000005.10: g.138975444_139033712del58269 deletion Pathogenic GRCh38 Chromosome 5, 138975444: 139033712
19 SIL1 NM_022464.4(SIL1): c.153A> G (p.Thr51=) single nucleotide variant Benign rs3088052 GRCh37 Chromosome 5, 138456815: 138456815
20 SIL1 NM_022464.4(SIL1): c.153A> G (p.Thr51=) single nucleotide variant Benign rs3088052 GRCh38 Chromosome 5, 139121126: 139121126
21 SIL1 NM_022464.4(SIL1): c.368C> T (p.Thr123Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs115800498 GRCh37 Chromosome 5, 138378394: 138378394
22 SIL1 NM_022464.4(SIL1): c.368C> T (p.Thr123Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs115800498 GRCh38 Chromosome 5, 139042705: 139042705
23 SIL1 NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs774441811 GRCh37 Chromosome 5, 138362675: 138362675
24 SIL1 NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs774441811 GRCh38 Chromosome 5, 139026986: 139026986
25 SIL1 NM_022464.4(SIL1): c.900C> T (p.Phe300=) single nucleotide variant Benign/Likely benign rs35080367 GRCh38 Chromosome 5, 138951300: 138951300
26 SIL1 NM_022464.4(SIL1): c.900C> T (p.Phe300=) single nucleotide variant Benign/Likely benign rs35080367 GRCh37 Chromosome 5, 138286989: 138286989
27 SIL1 NM_022464.4(SIL1): c.394A> C (p.Lys132Gln) single nucleotide variant Benign/Likely benign rs61745568 GRCh37 Chromosome 5, 138378368: 138378368
28 SIL1 NM_022464.4(SIL1): c.394A> C (p.Lys132Gln) single nucleotide variant Benign/Likely benign rs61745568 GRCh38 Chromosome 5, 139042679: 139042679
29 SIL1 NM_022464.4(SIL1): c.-6C> G single nucleotide variant Benign/Likely benign rs11555154 GRCh37 Chromosome 5, 138463538: 138463538
30 SIL1 NM_022464.4(SIL1): c.-6C> G single nucleotide variant Benign/Likely benign rs11555154 GRCh38 Chromosome 5, 139127849: 139127849
31 SIL1 NM_001037633.1(SIL1): c.1205delG (p.Gly402Alafs) deletion Pathogenic rs886043087 GRCh37 Chromosome 5, 138282987: 138282987
32 SIL1 NM_001037633.1(SIL1): c.1205delG (p.Gly402Alafs) deletion Pathogenic rs886043087 GRCh38 Chromosome 5, 138947298: 138947298
33 SIL1 NM_022464.4(SIL1): c.1351G> A (p.Gly451Ser) single nucleotide variant Likely benign rs34214251 GRCh37 Chromosome 5, 138282841: 138282841
34 SIL1 NM_022464.4(SIL1): c.1351G> A (p.Gly451Ser) single nucleotide variant Likely benign rs34214251 GRCh38 Chromosome 5, 138947152: 138947152
35 SIL1 NM_022464.4(SIL1): c.1029+6T> C single nucleotide variant Benign/Likely benign rs57028146 GRCh37 Chromosome 5, 138286854: 138286854
36 SIL1 NM_022464.4(SIL1): c.1029+6T> C single nucleotide variant Benign/Likely benign rs57028146 GRCh38 Chromosome 5, 138951165: 138951165
37 SIL1 NM_022464.4(SIL1): c.1160C> T (p.Ala387Val) single nucleotide variant Uncertain significance rs753439841 GRCh37 Chromosome 5, 138283032: 138283032
38 SIL1 NM_022464.4(SIL1): c.1160C> T (p.Ala387Val) single nucleotide variant Uncertain significance rs753439841 GRCh38 Chromosome 5, 138947343: 138947343
39 SIL1 NM_022464.4(SIL1): c.933G> A (p.Gly311=) single nucleotide variant Conflicting interpretations of pathogenicity rs61744666 GRCh37 Chromosome 5, 138286956: 138286956
40 SIL1 NM_022464.4(SIL1): c.933G> A (p.Gly311=) single nucleotide variant Conflicting interpretations of pathogenicity rs61744666 GRCh38 Chromosome 5, 138951267: 138951267
41 SIL1 NM_022464.4(SIL1): c.191C> T (p.Ala64Val) single nucleotide variant Uncertain significance rs777387984 GRCh37 Chromosome 5, 138456777: 138456777
42 SIL1 NM_022464.4(SIL1): c.191C> T (p.Ala64Val) single nucleotide variant Uncertain significance rs777387984 GRCh38 Chromosome 5, 139121088: 139121088
43 SIL1 NM_022464.4(SIL1): c.-29C> G single nucleotide variant Uncertain significance rs886059982 GRCh38 Chromosome 5, 139198287: 139198287
44 SIL1 NM_022464.4(SIL1): c.-29C> G single nucleotide variant Uncertain significance rs886059982 GRCh37 Chromosome 5, 138533976: 138533976
45 SIL1 NM_022464.4(SIL1): c.*30C> T single nucleotide variant Uncertain significance rs371494585 GRCh37 Chromosome 5, 138282776: 138282776
46 SIL1 NM_022464.4(SIL1): c.*30C> T single nucleotide variant Uncertain significance rs371494585 GRCh38 Chromosome 5, 138947087: 138947087
47 SIL1 NM_022464.4(SIL1): c.454-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs58624842 GRCh37 Chromosome 5, 138362687: 138362687
48 SIL1 NM_022464.4(SIL1): c.454-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs58624842 GRCh38 Chromosome 5, 139026998: 139026998
49 SIL1 NM_022464.4(SIL1): c.274C> T (p.Arg92Trp) single nucleotide variant Benign/Likely benign rs149242794 GRCh37 Chromosome 5, 138386706: 138386706
50 SIL1 NM_022464.4(SIL1): c.274C> T (p.Arg92Trp) single nucleotide variant Benign/Likely benign rs149242794 GRCh38 Chromosome 5, 139051017: 139051017

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:

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Marinesco-Sjogren Syndrome

Cellular components related to Marinesco-Sjogren Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.8 FA2H INPP5K SIL1

Sources for Marinesco-Sjogren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....