MSS
MCID: MRN003
MIFTS: 54

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 56 12 52 58 36 13 54 15 39 71
Marinesco-Sjögren Syndrome 74 24 25 29 6
Mss 56 52 25 73
Marinesco-Garland Syndrome 12 52 25
Hereditary Oligophrenic Cerebello-Lental Degeneration 12 25
Garland-Moorhouse Syndrome 12 25
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 52
Oligophrenic Cerebellolenticular Degeneration 12
Marinesco-Sjogren Syndrome-Myopathy 52
Marinesco-Sjogren-Garland Syndrome 52
Marinesco-Sjoegren Syndrome 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to optic atrophy 3, autosomal dominant and spinocerebellar degeneration, 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 Photodynamic therapy-induced unfolded protein response. Affiliated tissues include eye, skeletal muscle and bone, and related phenotypes are cataract and intellectual disability

Disease Ontology : 12 A syndrome 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 : 56 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 : 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 : 73 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 : 74 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 137)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 3, autosomal dominant 30.8 OPA3 CRYAA
2 spinocerebellar degeneration 30.6 TTPA POLG
3 vitamin e, familial isolated deficiency of 30.0 TTPA SACS FXN APTX
4 autosomal recessive cerebellar ataxia 29.9 TTPA SACS FXN COQ8A APTX
5 peripheral nervous system disease 29.8 SACS POLG OPA3 FXN CRYAA APTX
6 3-methylglutaconic aciduria, type iii 29.8 POLG OPA3 KCNC3 FXN CRYAA
7 mitochondrial myopathy 29.6 POLG MSTO1 FXN COQ8A
8 kearns-sayre syndrome 29.6 POLG OPA3 FXN COQ8A APTX
9 autosomal dominant cerebellar ataxia 29.4 TTPA SACS POLG KCNC3 FXN CRYAA
10 marshall-smith syndrome 11.9
11 mesomelia-synostoses syndrome 11.6
12 gillespie syndrome 11.6
13 congenital cataracts, facial dysmorphism, and neuropathy 11.6
14 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
15 multiple synostoses syndrome 1 11.2
16 sjogren syndrome 10.9
17 cataract 10.7
18 hypogonadism 10.6
19 myopathy 10.6
20 neuropathy 10.5
21 ataxia and polyneuropathy, adult-onset 10.5
22 muscular dystrophy 10.5
23 spasticity 10.5
24 colorectal cancer 10.4
25 muscular dystrophy, congenital, lmna-related 10.4
26 cerebellar hypoplasia 10.4
27 microcephaly 10.4
28 cerebrotendinous xanthomatosis 10.3
29 xanthomatosis 10.3
30 congenital toxoplasmosis 10.3
31 toxoplasmosis 10.3
32 cerebellar ataxia, cayman type 10.3 TTPA ATCAY
33 coenzyme q10 deficiency, primary, 1 10.3 COQ8A APTX
34 3-methylglutaconic aciduria, type iv 10.3 POLG OPA3
35 alacrima, achalasia, and mental retardation syndrome 10.3
36 autosomal recessive disease 10.3
37 visual epilepsy 10.3
38 neuromuscular disease 10.3
39 pathologic nystagmus 10.3
40 pnpla6-related disorders 10.3
41 hypotonia 10.3
42 seizure disorder 10.3
43 coenzyme q10 deficiency, primary, 4 10.2 COQ8A APTX
44 craniolenticulosutural dysplasia 10.2 SAR1B MIA2
45 adenocarcinoma 10.2
46 lynch syndrome 10.2
47 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.2 SACS ATCAY APTX
48 lichtenstein-knorr syndrome 10.2 SACS ATCAY APTX
49 spinocerebellar ataxia, autosomal recessive 14 10.2 SACS COQ8A
50 amyotrophic lateral sclerosis 1 10.2

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 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
6 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
7 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
10 dysphonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001618
11 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
12 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
13 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
14 abnormality of the cerebellar vermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002334
15 external genital hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003241
16 aplasia/hypoplasia involving the skeletal musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001460
17 abnormal aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012400
18 abnormal circulating creatine kinase concentration 31 hallmark (90%) HP:0040081
19 abnormal lactate dehydrogenase level 31 hallmark (90%) HP:0045040
20 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
21 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
22 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
23 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
24 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
25 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
26 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
42 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
43 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
44 kyphosis 31 HP:0002808
45 pes planus 31 HP:0001763
46 neurological speech impairment 58 Very frequent (99-80%)
47 short stature 31 HP:0004322
48 hypertonia 58 Frequent (79-30%)
49 flexion contracture 31 HP:0001371
50 failure to thrive 31 HP:0001508

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Neurologic Central Nervous System:
spasticity
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
more
Skeletal Limbs:
cubitus valgus
coxa valga

Skeletal Hands:
short metacarpals

Laboratory Abnormalities:
increased serum creatine kinase

Endocrine Features:
hypergonadotrophic hypogonadism

Head And Neck Head:
microcephaly

Growth Other:
failure to thrive
growth retardation

Head And Neck Eyes:
nystagmus
strabismus
congenital cataracts

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

UMLS symptoms related to Marinesco-Sjogren Syndrome:


gait ataxia, muscle spasticity, cerebellar ataxia

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

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.18 INPP5K
2 Decreased viability GR00221-A-1 10.18 COQ8A FXN
3 Decreased viability GR00221-A-2 10.18 HSPA5
4 Decreased viability GR00221-A-3 10.18 COQ8A
5 Decreased viability GR00240-S-1 10.18 KCNC3
6 Decreased viability GR00249-S 10.18 CRYAA DNAJC10 HSPA5 INPP5K
7 Decreased viability GR00301-A 10.18 FXN HSPA5
8 Decreased viability GR00342-S-2 10.18 DNAJC3
9 Decreased viability GR00342-S-3 10.18 DNAJC3
10 Decreased viability GR00381-A-1 10.18 COQ8A
11 Decreased viability GR00386-A-1 10.18 DNAJC10 POLG SACS TTPA
12 Decreased viability GR00402-S-2 10.18 CRYAA MIA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.05 ATCAY
14 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.05 CRYAA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.05 FXN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.05 CRYAA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.05 ATCAY
18 Increased shRNA abundance (Z-score > 2) GR00366-A-17 10.05 SAR1B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.05 SAR1B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.05 ATCAY
21 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.05 FXN TTPA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.05 CRYAA FXN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.05 CRYAA FXN
24 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.05 ATCAY
25 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.05 ATCAY
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.05 ATCAY
27 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.05 FXN TTPA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.05 SAR1B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.05 SAR1B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.05 TTPA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.05 CRYAA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.05 FXN
33 Increased shRNA abundance (Z-score > 2) GR00366-A-95 10.05 SAR1B
34 Increased the percentage of infected cells GR00402-S-1 8.32 ATCAY

MGI Mouse Phenotypes related to Marinesco-Sjogren Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APTX ATCAY COQ8A DNAJC10 DNAJC3 FXN
2 muscle MP:0005369 9.56 ATCAY COQ8A FXN INPP5K KCNC3 OPA3
3 nervous system MP:0003631 9.36 ATCAY COQ8A DNAJC3 FXN HSPA5 HYOU1

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:

40
Eye, Skeletal Muscle, Bone, Cortex, Brain

Publications for Marinesco-Sjogren Syndrome

Articles related to Marinesco-Sjogren Syndrome:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. 61 6 56 24 54
16282977 2005
2
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. 61 54 24 56 6
16282978 2005
3
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. 24 6 56 61
20111056 2010
4
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. 6 56 24 61
18285827 2008
5
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 6 56 24
17309654 2007
6
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. 6 56 61
24631270 2014
7
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 61 6 56
10665502 2000
8
A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree. 61 24 6
17026626 2006
9
Marinesco-Sjögren syndrome in a male with mild dysmorphism. 24 61 56
15633176 2005
10
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. 61 56 24
14512967 2003
11
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 56 6
12692552 2003
12
A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. 56 24 61
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. 61 56
19440741 2010
14
Marinesco-Sjögren Syndrome 61 6
20301371 2006
15
Genetic landmarks through philately: Georges Marinesco (1863-1938). 61 56
12974734 2003
16
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. 56 61
12414825 2002
17
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. 56 61
11805249 2002
18
Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. 56 61
9638664 1998
19
Marinesco-Sjögren syndrome in a Bedouin family. 61 56
9449477 1997
20
Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. 56 61
8907346 1996
21
Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. 61 56
1491754 1992
22
Congenital muscular dystrophy in Marinesco-Sjögren syndrome. 56 61
1930423 1991
23
Muscle pathology in Marinesco-Sjögren syndrome. 56 61
2522540 1989
24
Myopathy in Marinesco-Sjogren syndrome. 61 56
3469098 1987
25
The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco. 61 56
3904448 1985
26
Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder. 56 61
3974903 1985
27
Marinesco-Sjögren syndrome. Report of an autopsy. 61 56
4647150 1972
28
[Marinesco-Sjogren syndrome. 1st anatomo-clinical study]. 61 56
5849252 1965
29
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. 56 61
14012309 1962
30
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. 61 24
28052128 2017
31
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome. 24 61
27106665 2016
32
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region. 24 61
27544240 2016
33
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. 61 24
26260654 2015
34
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation. 61 24
25982182 2015
35
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. 61 24
24362440 2014
36
A nationwide survey on Marinesco-Sjögren syndrome in Japan. 61 24
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. 24 61
24473200 2014
38
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. 61 24
24176978 2013
39
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 24 61
21873089 2012
40
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. 61 24
19471582 2009
41
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. 24 61
18395226 2008
42
Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. 24 61
16151599 2006
43
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome. 61 24
15623732 2004
44
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. 56
14517542 2003
45
Orthopaedic manifestations of Marinesco-Sjögren syndrome. 61 24
11961464 2002
46
Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome. 24 61
9386772 1997
47
Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. 56
830450 1977
48
An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. 56
13053231 1953
49
Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. 56
14792949 1950
50
Analysis of protein-coding genetic variation in 60,706 humans. 24
27535533 2016

Variations for Marinesco-Sjogren Syndrome

ClinVar genetic disease variations for Marinesco-Sjogren Syndrome:

6 (show top 50) (show all 71) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIL1 NM_022464.5(SIL1):c.947dup (p.Arg317fs)duplication Pathogenic 631958 5:138286941-138286942 5:138951252-138951253
2 SIL1 NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)SNV Pathogenic 2625 5:138386649-138386649 5:139050960-139050960
3 SIL1 NM_022464.5(SIL1):c.1029+1G>ASNV Pathogenic 2626 5:138286859-138286859 5:138951170-138951170
4 SIL1 NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)SNV Pathogenic 2627 rs119456966 5:138282880-138282880 5:138947191-138947191
5 SIL1 NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)SNV Pathogenic 2628 5:138282822-138282822 5:138947133-138947133
6 SIL1 NM_022464.5(SIL1):c.936dup (p.Leu313fs)duplication Pathogenic 2629 5:138286952-138286953 5:138951263-138951264
7 SIL1 NM_022464.5(SIL1):c.598_602GAAGA[1] (p.Glu201fs)short repeat Pathogenic 2630 5:138362528-138362532 5:139026839-139026843
8 SIL1 nsv1197592deletion Pathogenic 2631 5:138311134-138369402 5:138975444-139033712
9 SIL1 NM_022464.5(SIL1):c.502_505AAGA[3] (p.Asp170fs)short repeat Pathogenic 2622 5:138362625-138362626 5:139026936-139026937
10 SIL1 NM_022464.5(SIL1):c.645+1G>ASNV Pathogenic 2623 5:138362489-138362489 5:139026800-139026800
11 SIL1 NM_022464.5(SIL1):c.645+2T>CSNV Likely pathogenic 2624 5:138362488-138362488 5:139026799-139026799
12 SIL1 NM_022464.5(SIL1):c.154_155GA[2] (p.Arg53fs)short repeat Likely pathogenic 802157 5:138456809-138456810 5:139121120-139121121
13 SIL1 NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)SNV Conflicting interpretations of pathogenicity 96086 rs115800498 5:138378394-138378394 5:139042705-139042705
14 SIL1 NM_022464.5(SIL1):c.984C>T (p.Leu328=)SNV Conflicting interpretations of pathogenicity 199168 rs368666457 5:138286905-138286905 5:138951216-138951216
15 SIL1 NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)SNV Conflicting interpretations of pathogenicity 218488 rs73265454 5:138283153-138283153 5:138947464-138947464
16 SIL1 NM_022464.5(SIL1):c.573G>A (p.Lys191=)SNV Conflicting interpretations of pathogenicity 281616 rs148927511 5:138362562-138362562 5:139026873-139026873
17 SIL1 NM_022464.5(SIL1):c.1167C>T (p.Pro389=)SNV Conflicting interpretations of pathogenicity 285899 rs199890503 5:138283025-138283025 5:138947336-138947336
18 SIL1 NM_022464.5(SIL1):c.933G>A (p.Gly311=)SNV Conflicting interpretations of pathogenicity 351077 rs61744666 5:138286956-138286956 5:138951267-138951267
19 SIL1 NM_022464.5(SIL1):c.192C>T (p.Ala64=)SNV Conflicting interpretations of pathogenicity 351099 5:138456776-138456776 5:139121087-139121087
20 SIL1 NM_022464.5(SIL1):c.699T>C (p.Asn233=)SNV Conflicting interpretations of pathogenicity 351082 rs140891877 5:138356928-138356928 5:139021239-139021239
21 SIL1 NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)SNV Uncertain significance 351084 5:138362648-138362648 5:139026959-139026959
22 SIL1 NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)SNV Uncertain significance 351101 5:138456804-138456804 5:139121115-139121115
23 SIL1 NM_022464.5(SIL1):c.-92T>ASNV Uncertain significance 351105 5:138534039-138534039 5:139198350-139198350
24 SIL1 NM_022464.5(SIL1):c.-98C>TSNV Uncertain significance 351107 5:138534045-138534045 5:139198356-139198356
25 SIL1 NM_022464.5(SIL1):c.-106G>CSNV Uncertain significance 351108 5:138534053-138534053 5:139198364-139198364
26 SIL1 NM_022464.5(SIL1):c.191C>T (p.Ala64Val)SNV Uncertain significance 351100 5:138456777-138456777 5:139121088-139121088
27 SIL1 NM_022464.5(SIL1):c.-29C>GSNV Uncertain significance 351104 5:138533976-138533976 5:139198287-139198287
28 SIL1 NM_022464.5(SIL1):c.*30C>TSNV Uncertain significance 351073 5:138282776-138282776 5:138947087-138947087
29 SIL1 NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)SNV Uncertain significance 351075 5:138283032-138283032 5:138947343-138947343
30 SIL1 NM_022464.5(SIL1):c.-1T>CSNV Uncertain significance 351102 5:138463533-138463533 5:139127844-139127844
31 SIL1 NM_022464.5(SIL1):c.*68deldeletion Uncertain significance 351072 5:138282738-138282738 5:138947049-138947049
32 SIL1 NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)SNV Uncertain significance 351074 rs779649580 5:138282871-138282871 5:138947182-138947182
33 SIL1 NM_022464.5(SIL1):c.615G>A (p.Ala205=)SNV Uncertain significance 351083 5:138362520-138362520 5:139026831-139026831
34 SIL1 NM_022464.5(SIL1):c.196G>A (p.Val66Ile)SNV Uncertain significance 351098 5:138456772-138456772 5:139121083-139121083
35 SIL1 NM_022464.5(SIL1):c.*265C>GSNV Uncertain significance 351071 5:138282541-138282541 5:138946852-138946852
36 SIL1 NM_022464.5(SIL1):c.1017G>C (p.Leu339=)SNV Uncertain significance 351076 5:138286872-138286872 5:138951183-138951183
37 SIL1 NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)SNV Uncertain significance 862408 5:138283099-138283099 5:138947410-138947410
38 SIL1 NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)SNV Uncertain significance 845699 5:138286904-138286904 5:138951215-138951215
39 SIL1 NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)SNV Uncertain significance 845827 5:138456736-138456736 5:139121047-139121047
40 SIL1 NM_022464.5(SIL1):c.*349T>CSNV Uncertain significance 905072 5:138282457-138282457 5:138946768-138946768
41 SIL1 NM_022464.5(SIL1):c.*105C>TSNV Uncertain significance 906655 5:138282701-138282701 5:138947012-138947012
42 SIL1 NM_022464.5(SIL1):c.*80G>CSNV Uncertain significance 906656 5:138282726-138282726 5:138947037-138947037
43 SIL1 NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)SNV Uncertain significance 906657 5:138282913-138282913 5:138947224-138947224
44 SIL1 NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)SNV Uncertain significance 907688 5:138283070-138283070 5:138947381-138947381
45 SIL1 NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)SNV Uncertain significance 907689 5:138283107-138283107 5:138947418-138947418
46 SIL1 NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)SNV Uncertain significance 907690 5:138286951-138286951 5:138951262-138951262
47 SIL1 NM_022464.5(SIL1):c.930C>T (p.Leu310=)SNV Uncertain significance 907691 5:138286959-138286959 5:138951270-138951270
48 SIL1 NM_022464.5(SIL1):c.132G>A (p.Glu44=)SNV Uncertain significance 905212 5:138456836-138456836 5:139121147-139121147
49 SIL1 NM_022464.5(SIL1):c.645+15C>TSNV Uncertain significance 905155 5:138362475-138362475 5:139026786-139026786
50 SIL1 NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)SNV Uncertain significance 662306 5:138362491-138362491 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 11.39 SIL1 SAR1B HYOU1 HSPA5 DNAJC3 DNAJC10
2 10.62 HSPA5 DNAJC3
3 10.35 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 mitochondrion GO:0005739 9.92 SACS POLG OPA3 MSTO1 HSPA5 FXN
2 endoplasmic reticulum GO:0005783 9.86 SIL1 SAR1B MIA2 INPP5K HYOU1 HSPA5
3 endoplasmic reticulum lumen GO:0005788 9.55 SIL1 HYOU1 HSPA5 DNAJC3 DNAJC10
4 smooth endoplasmic reticulum GO:0005790 9.13 HYOU1 HSPA5 DNAJC3
5 endoplasmic reticulum chaperone complex GO:0034663 8.8 HYOU1 HSPA5 DNAJC10

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.72 HYOU1 HSPA5 FXN DNAJC3 CRYAA
2 IRE1-mediated unfolded protein response GO:0036498 9.33 HYOU1 HSPA5 DNAJC3
3 mitochondrion distribution GO:0048311 9.26 MSTO1 ATCAY
4 response to endoplasmic reticulum stress GO:0034976 9.26 HYOU1 HSPA5 DNAJC3 DNAJC10
5 protein folding in endoplasmic reticulum GO:0034975 8.8 HSPA5 DNAJC3 DNAJC10

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 TTPA SIL1 SACS POLG MIA2 KCNC3
2 unfolded protein binding GO:0051082 9.43 SIL1 HSPA5 CRYAA
3 misfolded protein binding GO:0051787 9.13 HSPA5 DNAJC3 DNAJC10
4 chaperone binding GO:0051087 9.02 SACS HYOU1 HSPA5 DNAJC3 DNAJC10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
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50 NDF-RT
53 NINDS
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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