MSS
MCID: MRN003
MIFTS: 53

Marinesco-Sjogren Syndrome (MSS)

Categories: Bone diseases, Endocrine 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 59 37 13 55 15 40 72
Marinesco-Sjögren Syndrome 75 24 25 29 6
Mss 57 53 25 74
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 74

Characteristics:

Orphanet epidemiological data:

59
marinesco-sjogren 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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080195
OMIM 57 248800
KEGG 37 H01284
ICD10 via Orphanet 34 G11.1
UMLS via Orphanet 73 C0024814
Orphanet 59 ORPHA559
MedGen 42 C0024814
UMLS 72 C0024814

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: 559DefinitionMarinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, 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 marshall-smith syndrome and gillespie syndrome, and has symptoms including gait ataxia, muscle spasticity and cerebellar ataxia. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Unfolded Protein Response (UPR). Affiliated tissues include eye, skeletal muscle and bone, and related phenotypes are intellectual disability and ataxia

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. Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria). Affected individuals may have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, puberty is either delayed or absent.

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)

KEGG : 37
Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome.

UniProtKB/Swiss-Prot : 74 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 : 75 Marinesco-Sjogren syndrome (MSS), sometimes spelled Marinescu-Sjogren 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 top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 marshall-smith syndrome 11.9
2 gillespie syndrome 11.6
3 congenital cataracts, facial dysmorphism, and neuropathy 11.6
4 mesomelia-synostoses syndrome 11.5
5 short-rib thoracic dysplasia 9 with or without polydactyly 11.2
6 multiple synostoses syndrome 1 11.2
7 sjogren syndrome 10.9
8 cataract 10.7
9 hypogonadism 10.6
10 hypogonadotropism 10.6
11 myopathy 10.5
12 neuropathy 10.5
13 ataxia and polyneuropathy, adult-onset 10.5
14 aceruloplasminemia 10.5
15 peripheral nervous system disease 10.5
16 muscular dystrophy 10.5
17 spasticity 10.5
18 colorectal cancer 10.4
19 cerebellar hypoplasia 10.4
20 muscular dystrophy, congenital, lmna-related 10.4
21 microcephaly 10.4
22 cerebrotendinous xanthomatosis 10.3
23 xanthomatosis 10.3
24 congenital toxoplasmosis 10.3
25 autosomal dominant cerebellar ataxia 10.3
26 toxoplasmosis 10.3
27 autosomal recessive cerebellar ataxia 10.3
28 optic atrophy 3, autosomal dominant 10.2
29 3-methylglutaconic aciduria, type iii 10.2
30 alacrima, achalasia, and mental retardation syndrome 10.2
31 autosomal recessive disease 10.2
32 visual epilepsy 10.2
33 neuromuscular disease 10.2
34 pathologic nystagmus 10.2
35 pnpla6-related disorders 10.2
36 hypotonia 10.2
37 seizure disorder 10.2
38 adenocarcinoma 10.2
39 lynch syndrome 10.2
40 amyotrophic lateral sclerosis 1 10.1
41 coloboma of macula 10.1
42 hyperostosis frontalis interna 10.1
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.1
44 strabismus 10.1
45 abetalipoproteinemia 10.1
46 dandy-walker syndrome 10.1
47 chylomicron retention disease 10.1
48 muscular dystrophy-dystroglycanopathy , type a, 4 10.1
49 vitamin e, familial isolated deficiency of 10.1
50 kearns-sayre syndrome 10.1

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



Diseases related to Marinesco-Sjogren Syndrome

Symptoms & Phenotypes for Marinesco-Sjogren Syndrome

Human phenotypes related to Marinesco-Sjogren Syndrome:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
5 dysphonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001618
6 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
9 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
10 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
11 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
12 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
13 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
14 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
15 abnormality of the cerebellar vermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002334
16 aplasia/hypoplasia involving the skeletal musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001460
17 external genital hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003241
18 abnormal aldolase level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012400
19 abnormal circulating creatine kinase concentration 32 hallmark (90%) HP:0040081
20 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
21 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
22 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
23 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
24 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
25 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
26 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
27 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
28 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
29 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
30 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
31 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
32 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
33 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
34 abnormality of finger 59 32 frequent (33%) Frequent (79-30%) HP:0001167
35 metatarsus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0010508
36 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
37 avascular necrosis of the capital femoral epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0005743
38 muscle flaccidity 59 32 frequent (33%) Frequent (79-30%) HP:0010547
39 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
40 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
41 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
42 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
43 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
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

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

UMLS symptoms related to Marinesco-Sjogren Syndrome:


gait ataxia, muscle spasticity, cerebellar ataxia

MGI Mouse Phenotypes related to Marinesco-Sjogren Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 ATF6 ERN1 HSP90B1 HSPA5 INPP5K OPA3
2 growth/size/body region MP:0005378 9.5 ATF6 ERN1 HSP90B1 HSPA5 INPP5K OPA3
3 mortality/aging MP:0010768 9.28 ATF6 ERN1 HSP90B1 HSPA5 INPP5K OPA3

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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, Skeletal Muscle, Bone, Cortex, Brain

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

(show top 50) (show all 165)
# Title Authors PMID Year
1
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. 9 38 4 8 71
16282977 2005
2
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. 9 38 4 8 71
16282978 2005
3
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. 38 4 8 71
20111056 2010
4
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. 38 4 8 71
18285827 2008
5
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 4 8 71
17309654 2007
6
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. 38 8 71
24631270 2014
7
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 38 8 71
10665502 2000
8
A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree. 38 4 71
17026626 2006
9
Marinesco-Sjögren syndrome in a male with mild dysmorphism. 38 4 8
15633176 2005
10
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. 38 4 8
14512967 2003
11
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 8 71
12692552 2003
12
A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. 38 4 8
3683758 1987
13
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 38 8
19440741 2010
14
Marinesco-Sjögren Syndrome 38 71
20301371 2006
15
Genetic landmarks through philately: Georges Marinesco (1863-1938). 38 8
12974734 2003
16
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. 38 8
12414825 2002
17
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. 38 8
11805249 2002
18
Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. 38 8
9638664 1998
19
Marinesco-Sjögren syndrome in a Bedouin family. 38 8
9449477 1997
20
Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. 38 8
8907346 1996
21
Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. 38 8
1491754 1992
22
Congenital muscular dystrophy in Marinesco-Sjögren syndrome. 38 8
1930423 1991
23
Muscle pathology in Marinesco-Sjögren syndrome. 38 8
2522540 1989
24
Myopathy in Marinesco-Sjogren syndrome. 38 8
3469098 1987
25
The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco. 38 8
3904448 1985
26
Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder. 38 8
3974903 1985
27
Marinesco-Sjögren syndrome. Report of an autopsy. 38 8
4647150 1972
28
[Marinesco-Sjogren syndrome. 1st anatomo-clinical study]. 38 8
5849252 1965
29
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. 38 8
14012309 1962
30
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. 38 4
28052128 2017
31
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome. 38 4
27106665 2016
32
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region. 38 4
27544240 2016
33
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. 38 4
26260654 2015
34
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation. 38 4
25982182 2015
35
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. 38 4
24362440 2014
36
A nationwide survey on Marinesco-Sjögren syndrome in Japan. 38 4
24755310 2014
37
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex. 38 4
24473200 2014
38
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. 38 4
24176978 2013
39
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 38 4
21873089 2012
40
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. 38 4
19471582 2009
41
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. 38 4
18395226 2008
42
Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. 38 4
16151599 2006
43
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome. 38 4
15623732 2004
44
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. 8
14517542 2003
45
Orthopaedic manifestations of Marinesco-Sjögren syndrome. 38 4
11961464 2002
46
Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome. 38 4
9386772 1997
47
Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. 8
830450 1977
48
An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. 8
13053231 1953
49
Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. 8
14792949 1950
50
Analysis of protein-coding genetic variation in 60,706 humans. 4
27535533 2016

Variations for Marinesco-Sjogren Syndrome

ClinVar genetic disease variations for Marinesco-Sjogren Syndrome:

6 (show all 45)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SIL1 SIL1, 4-BP DUP, 506AAGA duplication Pathogenic
2 SIL1 NM_001037633.2(SIL1): c.645+1G> A single nucleotide variant Pathogenic 5:138362489-138362489 5:139026800-139026800
3 SIL1 NM_001037633.2(SIL1): c.645+2T> C single nucleotide variant Pathogenic 5:138362488-138362488 5:139026799-139026799
4 SIL1 NM_001037633.2(SIL1): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic 5:138386649-138386649 5:139050960-139050960
5 SIL1 NM_022464.4(SIL1): c.865_1029del single nucleotide variant Pathogenic 5:138286859-138286859 5:138951170-138951170
6 SIL1 NM_001037633.2(SIL1): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs119456966 5:138282880-138282880 5:138947191-138947191
7 SIL1 NM_001037633.2(SIL1): c.1370T> C (p.Leu457Pro) single nucleotide variant Pathogenic 5:138282822-138282822 5:138947133-138947133
8 SIL1 NM_001037633.2(SIL1): c.936dup (p.Leu313fs) duplication Pathogenic 5:138286953-138286953 5:138951264-138951264
9 SIL1 NM_001037633.2(SIL1): c.598_602GAAGA[1] (p.Glu201fs) short repeat Pathogenic 5:138362528-138362532 5:139026839-139026843
10 SIL1 nsv1197592 deletion Pathogenic 5:138311134-138369402 5:138975444-139033712
11 SIL1 NM_001037633.2(SIL1): c.947dup (p.Arg317fs) duplication Pathogenic 5:138286941-138286941 5:138951253-138951253
12 SIL1 NM_001037633.2(SIL1): c.454-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs58624842 5:138362687-138362687 5:139026998-139026998
13 SIL1 NM_001037633.2(SIL1): c.368C> T (p.Thr123Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs115800498 5:138378394-138378394 5:139042705-139042705
14 SIL1 NM_001037633.2(SIL1): c.933G> A (p.Gly311=) single nucleotide variant Conflicting interpretations of pathogenicity rs61744666 5:138286956-138286956 5:138951267-138951267
15 SIL1 NM_001037633.2(SIL1): c.699T> C (p.Asn233=) single nucleotide variant Conflicting interpretations of pathogenicity rs140891877 5:138356928-138356928 5:139021239-139021239
16 SIL1 NM_001037633.2(SIL1): c.487C> T (p.Pro163Ser) single nucleotide variant Uncertain significance 5:138362648-138362648 5:139026959-139026959
17 SIL1 NM_001037633.2(SIL1): c.192C> T (p.Ala64=) single nucleotide variant Uncertain significance 5:138456776-138456776 5:139121087-139121087
18 SIL1 NM_001037633.2(SIL1): c.164A> G (p.Glu55Gly) single nucleotide variant Uncertain significance 5:138456804-138456804 5:139121115-139121115
19 SIL1 NM_001037633.2(SIL1): c.-180T> A single nucleotide variant Uncertain significance 5:138534039-138534039 5:139198350-139198350
20 SIL1 NM_001037633.2(SIL1): c.-186C> T single nucleotide variant Uncertain significance 5:138534045-138534045 5:139198356-139198356
21 SIL1 NM_001037633.2(SIL1): c.-194G> C single nucleotide variant Uncertain significance 5:138534053-138534053 5:139198364-139198364
22 SIL1 NM_001037633.2(SIL1): c.1060C> T (p.Gln354Ter) single nucleotide variant Uncertain significance 5:138283132-138283132 5:138947443-138947443
23 SIL1 NM_001037633.2(SIL1): c.*68del deletion Uncertain significance 5:138282738-138282738 5:138947049-138947049
24 SIL1 NM_001037633.2(SIL1): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs779649580 5:138282871-138282871 5:138947182-138947182
25 SIL1 NM_001037633.2(SIL1): c.615G> A (p.Ala205=) single nucleotide variant Uncertain significance 5:138362520-138362520 5:139026831-139026831
26 SIL1 NM_001037633.2(SIL1): c.196G> A (p.Val66Ile) single nucleotide variant Uncertain significance 5:138456772-138456772 5:139121083-139121083
27 SIL1 NM_001037633.2(SIL1): c.-182G> C single nucleotide variant Uncertain significance 5:138534041-138534041 5:139198352-139198352
28 SIL1 NM_001037633.2(SIL1): c.*265C> G single nucleotide variant Uncertain significance 5:138282541-138282541 5:138946852-138946852
29 SIL1 NM_001037633.2(SIL1): c.1017G> C (p.Leu339=) single nucleotide variant Uncertain significance 5:138286872-138286872 5:138951183-138951183
30 SIL1 NM_001037633.2(SIL1): c.191C> T (p.Ala64Val) single nucleotide variant Uncertain significance 5:138456777-138456777 5:139121088-139121088
31 SIL1 NM_001037633.2(SIL1): c.-117C> G single nucleotide variant Uncertain significance 5:138533976-138533976 5:139198287-139198287
32 SIL1 NM_001037633.2(SIL1): c.*30C> T single nucleotide variant Uncertain significance 5:138282776-138282776 5:138947087-138947087
33 SIL1 NM_001037633.2(SIL1): c.1160C> T (p.Ala387Val) single nucleotide variant Uncertain significance 5:138283032-138283032 5:138947343-138947343
34 SIL1 NM_001037633.2(SIL1): c.644A> G (p.Gln215Arg) single nucleotide variant Uncertain significance 5:138362491-138362491 5:139026802-139026802
35 SIL1 NM_001037633.2(SIL1): c.-1T> C single nucleotide variant Uncertain significance 5:138463533-138463533 5:139127844-139127844
36 SIL1 NM_001037633.2(SIL1): c.1206C> T (p.Gly402=) single nucleotide variant Likely benign rs146164392 5:138282986-138282986 5:138947297-138947297
37 SIL1 NM_001037633.2(SIL1): c.1351G> A (p.Gly451Ser) single nucleotide variant Likely benign rs34214251 5:138282841-138282841 5:138947152-138947152
38 SIL1 NM_001037633.2(SIL1): c.1029+6T> C single nucleotide variant Benign/Likely benign rs57028146 5:138286854-138286854 5:138951165-138951165
39 SIL1 NM_001037633.2(SIL1): c.239A> G (p.Gln80Arg) single nucleotide variant Benign/Likely benign rs35581768 5:138456729-138456729 5:139121040-139121040
40 SIL1 NM_001037633.2(SIL1): c.-6C> G single nucleotide variant Benign/Likely benign rs11555154 5:138463538-138463538 5:139127849-139127849
41 SIL1 NM_001037633.2(SIL1): c.394A> C (p.Lys132Gln) single nucleotide variant Benign/Likely benign rs61745568 5:138378368-138378368 5:139042679-139042679
42 SIL1 NM_001037633.2(SIL1): c.900C> T (p.Phe300=) single nucleotide variant Benign/Likely benign rs35080367 5:138286989-138286989 5:138951300-138951300
43 SIL1 NM_001037633.2(SIL1): c.865-7C> T single nucleotide variant Benign/Likely benign rs141796576 5:138287031-138287031 5:138951342-138951342
44 SIL1 NM_001037633.2(SIL1): c.274C> T (p.Arg92Trp) single nucleotide variant Benign/Likely benign rs149242794 5:138386706-138386706 5:139051017-139051017
45 SIL1 NM_001037633.2(SIL1): c.153A> G (p.Thr51=) single nucleotide variant Benign rs3088052 5:138456815-138456815 5:139121126-139121126

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 mitochondrion GO:0005739 9.77 TFAM OPA3 HSPA5 ERN1 COQ8A
2 endoplasmic reticulum membrane GO:0005789 9.71 HSPA5 HSP90B1 ERN1 ATF6
3 integral component of endoplasmic reticulum membrane GO:0030176 9.5 HSPA5 ERN1 ATF6
4 endoplasmic reticulum GO:0005783 9.5 SIL1 P4HB INPP5K HSPA5 HSP90B1 ERN1
5 endoplasmic reticulum lumen GO:0005788 9.46 SIL1 P4HB HSPA5 HSP90B1
6 melanosome GO:0042470 9.43 P4HB HSPA5 HSP90B1
7 endoplasmic reticulum chaperone complex GO:0034663 8.8 P4HB HSPA5 HSP90B1

Biological processes related to Marinesco-Sjogren Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 9.5 HSPA5 ERN1 ATF6
2 ubiquitin-dependent ERAD pathway GO:0030433 9.49 HSPA5 HSP90B1
3 cellular response to cAMP GO:0071320 9.48 INPP5K HSPA5
4 IRE1-mediated unfolded protein response GO:0036498 9.46 HSPA5 ERN1
5 protein folding GO:0006457 9.46 SIL1 P4HB HSP90B1 ATF6
6 cellular response to unfolded protein GO:0034620 9.43 HSPA5 ERN1
7 endoplasmic reticulum unfolded protein response GO:0030968 9.43 HSPA5 ERN1 ATF6
8 protein folding in endoplasmic reticulum GO:0034975 9.4 HSPA5 HSP90B1
9 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.37 HSPA5 ATF6
10 response to endoplasmic reticulum stress GO:0034976 9.26 P4HB HSPA5 HSP90B1 ERN1
11 ATF6-mediated unfolded protein response GO:0036500 8.8 HSPA5 HSP90B1 ATF6

Molecular functions related to Marinesco-Sjogren Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.43 P4HB HSPA5 ERN1
2 heat shock protein binding GO:0031072 9.16 TFAM HSPA5
3 ADP binding GO:0043531 8.96 ERN1 COQ8A
4 unfolded protein binding GO:0051082 8.8 SIL1 HSPA5 HSP90B1

Sources for Marinesco-Sjogren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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