MSS
MCID: MRN003
MIFTS: 51

Marinesco-Sjogren Syndrome (MSS)

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

Aliases & Classifications for Marinesco-Sjogren Syndrome

MalaCards integrated aliases for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 57 12 20 58 36 13 54 15 39 70
Marinesco-Sjögren Syndrome 73 25 43 29 6
Mss 57 20 43 72
Marinesco-Garland Syndrome 12 20 43
Hereditary Oligophrenic Cerebello-Lental Degeneration 12 43
Garland-Moorhouse Syndrome 12 43
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 20
Oligophrenic Cerebellolenticular Degeneration 12
Marinesco-Sjogren Syndrome-Myopathy 20
Marinesco-Sjogren-Garland Syndrome 20
Marinesco-Sjoegren Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
marinesco-sjogren syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Marinesco-Sjogren Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 559 Definition Marinesco-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. Epidemiology Prevalence is most likely below 1 to 9/1 000 000. Disease onset occurs in infancy. Clinical description Dysarthria, 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. Etiology It 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 methods Diagnosis 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 diagnosis Prenatal diagnosis with molecular genetic techniques can be performed if a mutation is known in the family. Management and treatment Treatment 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. Prognosis Patients can survive to old age, with varying disability.

MalaCards based summary : Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to optic atrophy 3, autosomal dominant and peripheral nervous system disease, 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 Spinocerebellar ataxia. Affiliated tissues include eye, skeletal muscle and cortex, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.

MedlinePlus Genetics : 43 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) (Updated 05-Apr-2021)

KEGG : 36 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 : 72 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 : 73 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 top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 3, autosomal dominant 30.6 OPA3 CRYAA
2 peripheral nervous system disease 30.5 POLG OPA3 CRYAA APTX
3 ataxia with vitamin 3 deficiency 30.4 SIL1 APTX
4 chronic progressive external ophthalmoplegia 30.3 POLG OPA3 COQ8A
5 autosomal recessive cerebellar ataxia 30.3 SPTBN2 COQ8A APTX
6 kearns-sayre syndrome 30.1 POLG OPA3 COQ8A APTX
7 autosomal dominant cerebellar ataxia 29.6 SPTBN2 POLG KCNC3 DAB1 CRYAA APTX
8 marshall-smith syndrome 11.3
9 mesomelia-synostoses syndrome 11.3
10 gillespie syndrome 11.3
11 congenital cataracts, facial dysmorphism, and neuropathy 11.3
12 short-rib thoracic dysplasia 9 with or without polydactyly 11.0
13 multiple synostoses syndrome 1 10.9
14 sjogren syndrome 10.7
15 cataract 10.5
16 hypogonadism 10.5
17 neuropathy 10.4
18 myopathy 10.4
19 muscular dystrophy 10.4
20 spasticity 10.4
21 ataxia and polyneuropathy, adult-onset 10.3
22 muscular dystrophy, congenital, lmna-related 10.3
23 cerebellar hypoplasia 10.3
24 microcephaly 10.3
25 lens disease 10.3 SIL1 OPA3 CRYAA
26 mitochondrial complex iii deficiency, nuclear type 2 10.2 POLG MSTO1
27 coenzyme q10 deficiency, primary, 1 10.2 COQ8A APTX
28 colorectal cancer 10.2
29 coenzyme q10 deficiency, primary, 4 10.2 COQ8A APTX
30 cranial nerve disease 10.2 POLG OPA3 CRYAA
31 craniolenticulosutural dysplasia 10.2 SAR1B MIA2
32 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.2 SIL1 POLG COQ8A
33 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 COQ8A APTX
34 cerebral palsy, ataxic, autosomal recessive 10.2 SPTBN2 KCNC3
35 cerebrotendinous xanthomatosis 10.2
36 xanthomatosis 10.2
37 congenital toxoplasmosis 10.2
38 toxoplasmosis 10.2
39 spinocerebellar ataxia 20 10.2 SPTBN2 POLG
40 episodic ataxia, type 6 10.1 SPTBN2 KCNC3
41 spinocerebellar ataxia, autosomal recessive 14 10.1 SPTBN2 COQ8A
42 spastic paraplegia 7, autosomal recessive 10.1 KCNC3 COQ8A APTX
43 coenzyme q10 deficiency disease 10.1 POLG COQ8A APTX
44 far eastern spotted fever 10.1 SPTBN2 KCNC3
45 anemia, congenital dyserythropoietic, type ii 10.1 SAR1B MIA2
46 3-methylglutaconic aciduria, type iii 10.1
47 alacrima, achalasia, and mental retardation syndrome 10.1
48 autosomal recessive disease 10.1
49 neuromuscular disease 10.1
50 pathologic nystagmus 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:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
4 dysphonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001618
5 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
10 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
11 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
12 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
13 abnormality of the cerebellar vermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002334
14 external genital hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003241
15 aplasia/hypoplasia involving the skeletal musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001460
16 abnormal aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012400
17 hypotonia 31 hallmark (90%) HP:0001252
18 abnormal circulating creatine kinase concentration 31 hallmark (90%) HP:0040081
19 abnormal lactate dehydrogenase level 31 hallmark (90%) HP:0045040
20 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
21 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
22 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
23 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
24 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
25 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
26 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
27 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
28 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
29 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
30 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
31 metatarsus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0010508
32 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
33 abnormality of finger 58 31 frequent (33%) Frequent (79-30%) HP:0001167
34 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
35 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
36 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
37 avascular necrosis of the capital femoral epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0005743
38 muscle flaccidity 58 31 frequent (33%) Frequent (79-30%) HP:0010547
39 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
40 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
41 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
42 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
43 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
44 failure to thrive 31 HP:0001508
45 neurological speech impairment 58 Very frequent (99-80%)
46 kyphosis 31 HP:0002808
47 muscular hypotonia 58 Very frequent (99-80%)
48 pes planus 31 HP:0001763
49 short stature 31 HP:0004322
50 hypertonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
gait ataxia
cerebellar atrophy
psychomotor retardation
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Skeletal Limbs:
cubitus valgus
coxa valga

Skeletal Hands:
short metacarpals

Laboratory Abnormalities:
increased serum creatine kinase

Endocrine Features:
hypergonadotrophic hypogonadism

Growth Other:
failure to thrive
growth retardation

Head And Neck Eyes:
nystagmus
strabismus
congenital cataracts

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia
muscle atrophy
muscle weakness, progressive
myopathic changes seen on emg
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 (Updated 05-Apr-2021)

UMLS symptoms related to Marinesco-Sjogren Syndrome:


gait ataxia; muscle spasticity; cerebellar ataxia

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

Search Clinical Trials , 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:

40
Eye, Skeletal Muscle, Cortex, Bone, Brain

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

(show top 50) (show all 170)
# Title Authors PMID Year
1
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. 25 6 57 61 54
16282977 2005
2
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. 57 6 54 25 61
16282978 2005
3
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. 6 57 25 61
20111056 2010
4
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. 25 6 57 61
18285827 2008
5
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 6 25 57
17309654 2007
6
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. 61 57 6
24631270 2014
7
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 61 6 57
10665502 2000
8
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. 6 25 61
24176978 2013
9
A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree. 25 61 6
17026626 2006
10
Marinesco-Sjögren syndrome in a male with mild dysmorphism. 25 61 57
15633176 2005
11
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. 57 25 61
14512967 2003
12
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 57 6
12692552 2003
13
A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. 25 57 61
3683758 1987
14
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity. 6 61
26733775 2015
15
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. 61 57
19440741 2010
16
Genetic landmarks through philately: Georges Marinesco (1863-1938). 61 57
12974734 2003
17
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. 61 57
12414825 2002
18
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. 57 61
11805249 2002
19
Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. 61 57
9638664 1998
20
Marinesco-Sjögren syndrome in a Bedouin family. 61 57
9449477 1997
21
Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. 57 61
8907346 1996
22
Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. 57 61
1491754 1992
23
Congenital muscular dystrophy in Marinesco-Sjögren syndrome. 61 57
1930423 1991
24
Muscle pathology in Marinesco-Sjögren syndrome. 61 57
2522540 1989
25
Myopathy in Marinesco-Sjogren syndrome. 61 57
3469098 1987
26
The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco. 57 61
3904448 1985
27
Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder. 61 57
3974903 1985
28
Marinesco-Sjögren syndrome. Report of an autopsy. 57 61
4647150 1972
29
[Marinesco-Sjogren syndrome. 1st anatomo-clinical study]. 61 57
5849252 1965
30
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. 61 57
14012309 1962
31
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. 25 61
28052128 2017
32
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome. 61 25
27106665 2016
33
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region. 61 25
27544240 2016
34
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. 25 61
26260654 2015
35
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation. 25 61
25982182 2015
36
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. 25 61
24362440 2014
37
A nationwide survey on Marinesco-Sjögren syndrome in Japan. 61 25
24755310 2014
38
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex. 25 61
24473200 2014
39
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 61 25
21873089 2012
40
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. 61 25
19471582 2009
41
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. 61 25
18395226 2008
42
Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. 61 25
16151599 2006
43
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome. 61 25
15623732 2004
44
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. 57
14517542 2003
45
Orthopaedic manifestations of Marinesco-Sjögren syndrome. 25 61
11961464 2002
46
Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome. 25 61
9386772 1997
47
Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. 57
830450 1977
48
An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. 57
13053231 1953
49
Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. 57
14792949 1950
50
Analysis of protein-coding genetic variation in 60,706 humans. 25
27535533 2016

Variations for Marinesco-Sjogren Syndrome

ClinVar genetic disease variations for Marinesco-Sjogren Syndrome:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIL1 NM_022464.5(SIL1):c.645+1G>A SNV Pathogenic 2623 GRCh37: 5:138362489-138362489
GRCh38: 5:139026800-139026800
2 SIL1 NM_022464.5(SIL1):c.331C>T (p.Arg111Ter) SNV Pathogenic 2625 GRCh37: 5:138386649-138386649
GRCh38: 5:139050960-139050960
3 SIL1 NM_022464.5(SIL1):c.1029+1G>A SNV Pathogenic 2626 GRCh37: 5:138286859-138286859
GRCh38: 5:138951170-138951170
4 SIL1 NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro) SNV Pathogenic 2628 GRCh37: 5:138282822-138282822
GRCh38: 5:138947133-138947133
5 SIL1 NM_022464.5(SIL1):c.502_505AAGA[3] (p.Asp170fs) Microsatellite Pathogenic 2622 GRCh37: 5:138362625-138362626
GRCh38: 5:139026936-139026937
6 SIL1 NM_022464.5(SIL1):c.936dup (p.Leu313fs) Duplication Pathogenic 2629 GRCh37: 5:138286952-138286953
GRCh38: 5:138951263-138951264
7 SIL1 NM_022464.5(SIL1):c.598_602GAAGA[1] (p.Glu201fs) Microsatellite Pathogenic 2630 GRCh37: 5:138362528-138362532
GRCh38: 5:139026839-139026843
8 SIL1 nsv1197592 Deletion Pathogenic 2631 GRCh37: 5:138311134-138369402
GRCh38: 5:138975444-139033712
9 SIL1 NM_022464.5(SIL1):c.947dup (p.Arg317fs) Duplication Pathogenic 631958 GRCh37: 5:138286941-138286942
GRCh38: 5:138951252-138951253
10 SIL1 NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) SNV Pathogenic 2627 rs119456966 GRCh37: 5:138282880-138282880
GRCh38: 5:138947191-138947191
11 SIL1 NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter) SNV Pathogenic 1028267 GRCh37: 5:138282871-138282871
GRCh38: 5:138947182-138947182
12 SIL1 NM_022464.5(SIL1):c.1A>G (p.Met1Val) SNV Pathogenic 195372 rs573588795 GRCh37: 5:138463532-138463532
GRCh38: 5:139127843-139127843
13 SIL1 NM_022464.5(SIL1):c.154_155GA[2] (p.Arg53fs) Microsatellite Likely pathogenic 802157 GRCh37: 5:138456809-138456810
GRCh38: 5:139121120-139121121
14 SIL1 NM_022464.5(SIL1):c.645+2T>C SNV Likely pathogenic 2624 GRCh37: 5:138362488-138362488
GRCh38: 5:139026799-139026799
15 SIL1 NM_022464.5(SIL1):c.1167C>T (p.Pro389=) SNV Conflicting interpretations of pathogenicity 285899 rs199890503 GRCh37: 5:138283025-138283025
GRCh38: 5:138947336-138947336
16 SIL1 NM_022464.5(SIL1):c.724G>A (p.Val242Met) SNV Uncertain significance 448385 rs545999438 GRCh37: 5:138356903-138356903
GRCh38: 5:139021214-139021214
17 SIL1 NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) SNV Uncertain significance 448382 rs1021273983 GRCh37: 5:138283072-138283072
GRCh38: 5:138947383-138947383
18 SIL1 NM_022464.5(SIL1):c.458G>C (p.Arg153Thr) SNV Uncertain significance 1010028 GRCh37: 5:138362677-138362677
GRCh38: 5:139026988-139026988
19 SIL1 NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys) SNV Uncertain significance 1010979 GRCh37: 5:138282961-138282961
GRCh38: 5:138947272-138947272
20 SIL1 NM_022464.5(SIL1):c.624T>A (p.Asp208Glu) SNV Uncertain significance 936516 GRCh37: 5:138362511-138362511
GRCh38: 5:139026822-139026822
21 SIL1 NM_022464.5(SIL1):c.232G>T (p.Ala78Ser) SNV Uncertain significance 845827 GRCh37: 5:138456736-138456736
GRCh38: 5:139121047-139121047
22 SIL1 NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) SNV Uncertain significance 982813 GRCh37: 5:138286987-138286987
GRCh38: 5:138951298-138951298
23 SIL1 NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) SNV Uncertain significance 351074 rs779649580 GRCh37: 5:138282871-138282871
GRCh38: 5:138947182-138947182
24 SIL1 NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe) SNV Uncertain significance 973340 GRCh37: 5:138282906-138282906
GRCh38: 5:138947217-138947217
25 SIL1 NM_022464.5(SIL1):c.699T>C (p.Asn233=) SNV Uncertain significance 351082 rs140891877 GRCh37: 5:138356928-138356928
GRCh38: 5:139021239-139021239
26 SIL1 NM_022464.5(SIL1):c.192C>T (p.Ala64=) SNV Uncertain significance 351099 rs148651377 GRCh37: 5:138456776-138456776
GRCh38: 5:139121087-139121087
27 SIL1 NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) SNV Uncertain significance 593134 rs761095369 GRCh37: 5:138282910-138282910
GRCh38: 5:138947221-138947221
28 SIL1 NM_022464.5(SIL1):c.933G>A (p.Gly311=) SNV Uncertain significance 351077 rs61744666 GRCh37: 5:138286956-138286956
GRCh38: 5:138951267-138951267
29 SIL1 NM_022464.5(SIL1):c.*349T>C SNV Uncertain significance 905072 GRCh37: 5:138282457-138282457
GRCh38: 5:138946768-138946768
30 SIL1 NM_022464.5(SIL1):c.645+15C>T SNV Uncertain significance 905155 GRCh37: 5:138362475-138362475
GRCh38: 5:139026786-139026786
31 SIL1 NM_022464.5(SIL1):c.132G>A (p.Glu44=) SNV Uncertain significance 905212 GRCh37: 5:138456836-138456836
GRCh38: 5:139121147-139121147
32 SIL1 NM_022464.5(SIL1):c.*105C>T SNV Uncertain significance 906655 GRCh37: 5:138282701-138282701
GRCh38: 5:138947012-138947012
33 SIL1 NM_022464.5(SIL1):c.*80G>C SNV Uncertain significance 906656 GRCh37: 5:138282726-138282726
GRCh38: 5:138947037-138947037
34 SIL1 NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser) SNV Uncertain significance 906657 GRCh37: 5:138282913-138282913
GRCh38: 5:138947224-138947224
35 SIL1 NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys) SNV Uncertain significance 907688 GRCh37: 5:138283070-138283070
GRCh38: 5:138947381-138947381
36 SIL1 NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu) SNV Uncertain significance 907689 GRCh37: 5:138283107-138283107
GRCh38: 5:138947418-138947418
37 SIL1 NM_022464.5(SIL1):c.938T>C (p.Leu313Pro) SNV Uncertain significance 907690 GRCh37: 5:138286951-138286951
GRCh38: 5:138951262-138951262
38 SIL1 NM_022464.5(SIL1):c.930C>T (p.Leu310=) SNV Uncertain significance 907691 GRCh37: 5:138286959-138286959
GRCh38: 5:138951270-138951270
39 SIL1 NM_022464.5(SIL1):c.487C>T (p.Pro163Ser) SNV Uncertain significance 351084 GRCh37: 5:138362648-138362648
GRCh38: 5:139026959-139026959
40 SIL1 NM_022464.5(SIL1):c.196G>A (p.Val66Ile) SNV Uncertain significance 351098 GRCh37: 5:138456772-138456772
GRCh38: 5:139121083-139121083
41 SIL1 NM_022464.5(SIL1):c.*265C>G SNV Uncertain significance 351071 GRCh37: 5:138282541-138282541
GRCh38: 5:138946852-138946852
42 SIL1 NM_022464.5(SIL1):c.-29C>G SNV Uncertain significance 351104 GRCh37: 5:138533976-138533976
GRCh38: 5:139198287-139198287
43 SIL1 NM_022464.5(SIL1):c.164A>G (p.Glu55Gly) SNV Uncertain significance 351101 GRCh37: 5:138456804-138456804
GRCh38: 5:139121115-139121115
44 SIL1 NM_022464.5(SIL1):c.-98C>T SNV Uncertain significance 351107 GRCh37: 5:138534045-138534045
GRCh38: 5:139198356-139198356
45 SIL1 NM_022464.5(SIL1):c.*68del Deletion Uncertain significance 351072 GRCh37: 5:138282738-138282738
GRCh38: 5:138947049-138947049
46 SIL1 NM_022464.5(SIL1):c.*30C>T SNV Uncertain significance 351073 GRCh37: 5:138282776-138282776
GRCh38: 5:138947087-138947087
47 SIL1 NM_022464.5(SIL1):c.615G>A (p.Ala205=) SNV Uncertain significance 351083 GRCh37: 5:138362520-138362520
GRCh38: 5:139026831-139026831
48 SIL1 NM_022464.5(SIL1):c.1017G>C (p.Leu339=) SNV Uncertain significance 351076 GRCh37: 5:138286872-138286872
GRCh38: 5:138951183-138951183
49 SIL1 NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter) SNV Uncertain significance 631957 GRCh37: 5:138283132-138283132
GRCh38: 5:138947443-138947443
50 SIL1 NM_022464.5(SIL1):c.644A>G (p.Gln215Arg) SNV Uncertain significance 662306 GRCh37: 5:138362491-138362491
GRCh38: 5:139026802-139026802

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

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

# Super pathways Score Top Affiliating Genes
1 11.33 SIL1 SAR1B HYOU1 HSPA5 DNAJC3 CRYAA
2 11.29 SPTBN2 KCNC3 DAB1
3 10.72 HSPA5 DNAJC3
4 10.55 SAR1B HSPA5

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 9.8 SIL1 SAR1B MIA2 INPP5K HYOU1 HSPA5
2 endoplasmic reticulum lumen GO:0005788 9.46 SIL1 HYOU1 HSPA5 DNAJC3
3 endoplasmic reticulum chaperone complex GO:0034663 8.96 HYOU1 HSPA5
4 smooth endoplasmic reticulum GO:0005790 8.8 HYOU1 HSPA5 DNAJC3

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

# Name GO ID Score Top Affiliating Genes
1 response to endoplasmic reticulum stress GO:0034976 9.5 HYOU1 HSPA5 DNAJC3
2 ER to Golgi vesicle-mediated transport GO:0006888 9.46 SPTBN2 SAR1B MIA2 HYOU1
3 protein refolding GO:0042026 9.37 HSPA5 CRYAA
4 protein folding in endoplasmic reticulum GO:0034975 9.26 HSPA5 DNAJC3
5 IRE1-mediated unfolded protein response GO:0036498 9.13 HYOU1 HSPA5 DNAJC3
6 cerebellum structural organization GO:0021589 8.62 HSPA5 DAB1

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.33 HYOU1 HSPA5 DNAJC3
2 misfolded protein binding GO:0051787 9.26 HSPA5 DNAJC3
3 adenyl-nucleotide exchange factor activity GO:0000774 8.96 SIL1 HYOU1
4 unfolded protein binding GO:0051082 8.92 SIL1 HYOU1 HSPA5 CRYAA

Sources for Marinesco-Sjogren Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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