MCID: MRN003
MIFTS: 39

Marinesco-Sjogren Syndrome malady

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

Aliases & Classifications for Marinesco-Sjogren Syndrome

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Aliases & Descriptions for Marinesco-Sjogren Syndrome:

Name: Marinesco-Sjogren Syndrome 49 11 45 22 47 65
Marinesco-Sjögren Syndrome 21 23 51 24
Mss 45 23 67
Marinesco-Garland Syndrome 45 23
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 45
 
Hereditary Oligophrenic Cerebello-Lental Degeneration 23
Marinesco-Sjogren Syndrome-Myopathy 45
Marinesco-Sjogren-Garland Syndrome 45
Marinesco-Sjoegren Syndrome 67
Garland-Moorhouse Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
marinesco-sjogren syndrome:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 248800
Orphanet51 559
UMLS via Orphanet66 C0024814
ICD10 via Orphanet28 G11.1
MedGen34 C0024814
UMLS65 C0024814

Summaries for Marinesco-Sjogren Syndrome

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OMIM:49 Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts,... (248800) more...

MalaCards based summary: Marinesco-Sjogren Syndrome, also known as marinesco-sjögren syndrome, is related to short-rib thoracic dysplasia 9 with or without polydactyly and marshall-smith syndrome, and has symptoms including cognitive impairment, aplasia/hypoplasia of the cerebellum and short stature. An important gene associated with Marinesco-Sjogren Syndrome is SIL1 (SIL1 Nucleotide Exchange Factor). Affiliated tissues include eye, bone and cerebellum, and related mouse phenotype behavior/neurological.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

GeneReviews summary for NBK1192

Related Diseases for Marinesco-Sjogren Syndrome

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



Diseases related to marinesco-sjogren syndrome

Symptoms for Marinesco-Sjogren Syndrome

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Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

Symptoms:

 51 (show all 27)
  • cataract/lens opacification
  • strabismus/squint
  • late puberty/hypogonadism/hypogenitalism
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • nystagmus
  • pectus carinatum
  • scoliosis
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • talipes-valgus
  • hyperkinesia/dyskinesia
  • hypertonia/spasticity/rigidity/stiffness
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • microcephaly
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • peripheral neuropathy
  • areflexia/hyporeflexia

HPO human phenotypes related to Marinesco-Sjogren Syndrome:

(show all 53)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
3 short stature hallmark (90%) HP:0004322
4 myopathy hallmark (90%) HP:0003198
5 incoordination hallmark (90%) HP:0002311
6 neurological speech impairment hallmark (90%) HP:0002167
7 muscular hypotonia hallmark (90%) HP:0001252
8 cataract hallmark (90%) HP:0000518
9 strabismus hallmark (90%) HP:0000486
10 abnormality of the genital system hallmark (90%) HP:0000078
11 abnormality of movement typical (50%) HP:0100022
12 abnormality of the hip bone typical (50%) HP:0003272
13 skeletal muscle atrophy typical (50%) HP:0003202
14 scoliosis typical (50%) HP:0002650
15 talipes typical (50%) HP:0001883
16 muscle weakness typical (50%) HP:0001324
17 hypertonia typical (50%) HP:0001276
18 abnormality of the metacarpal bones typical (50%) HP:0001163
19 brachydactyly syndrome typical (50%) HP:0001156
20 pectus carinatum typical (50%) HP:0000768
21 nystagmus typical (50%) HP:0000639
22 peripheral neuropathy occasional (7.5%) HP:0009830
23 reduced tendon reflexes occasional (7.5%) HP:0001315
24 optic atrophy occasional (7.5%) HP:0000648
25 microcephaly occasional (7.5%) HP:0000252
26 short metatarsal HP:0010743
27 short metacarpal HP:0010049
28 cerebellar cortical atrophy HP:0008278
29 short stature HP:0004322
30 centrally nucleated skeletal muscle fibers HP:0003687
31 progressive muscle weakness HP:0003323
32 elevated serum creatine phosphokinase HP:0003236
33 skeletal muscle atrophy HP:0003202
34 myopathy HP:0003198
35 cubitus valgus HP:0002967
36 kyphosis HP:0002808
37 coxa valga HP:0002673
38 scoliosis HP:0002650
39 limb ataxia HP:0002070
40 gait ataxia HP:0002066
41 pes planus HP:0001763
42 failure to thrive HP:0001508
43 flexion contracture HP:0001371
44 global developmental delay HP:0001263
45 dysarthria HP:0001260
46 spasticity HP:0001257
47 muscular hypotonia HP:0001252
48 intellectual disability HP:0001249
49 hypergonadotropic hypogonadism HP:0000815
50 nystagmus HP:0000639
51 congenital cataract HP:0000519
52 strabismus HP:0000486
53 microcephaly HP:0000252

Drugs & Therapeutics for Marinesco-Sjogren Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Marinesco-Sjogren Syndrome

Genetic Tests for Marinesco-Sjogren Syndrome

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Genetic tests related to Marinesco-Sjogren Syndrome:

id Genetic test Affiliating Genes
1 Marinesco-Sjogren Syndrome22 SIL1

Anatomical Context for Marinesco-Sjogren Syndrome

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MalaCards organs/tissues related to Marinesco-Sjogren Syndrome:

33
Eye, Bone, Cerebellum, Skeletal muscle, Breast, Placenta

Animal Models for Marinesco-Sjogren Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Marinesco-Sjogren Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5OPA3, PHB2, SIL1

Publications for Marinesco-Sjogren Syndrome

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Articles related to Marinesco-Sjogren Syndrome:

idTitleAuthorsYear
1
Agoraphobia Related to Unassertiveness in Panic Disorder. (26915016)
2016
2
Mechanistic studies of cyclin-dependent kinase inhibitor 3 (CDKN3) in colorectal cancer. (25735390)
2015
3
Placenta accreta and maternal morbidity in the Republic of Ireland, 2005-2010. (23638753)
2014
4
Reduction in myocardial infarction admissions in Liverpool after the smoking ban: potential socioeconomic implications for policymaking. (24282240)
2013
5
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. (22552817)
2012
6
Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. (20008645)
2010
7
Interactions of human replication protein A with single-stranded DNA adducts. (15362978)
2005
8
Erdheim-Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings. (12186113)
2002
9
Activation of an influenza virus A/turkey/Oregon/71 HA insertion variant by the subtilisin-like endoprotease furin. (8030261)
1994
10
MYXEDEMA COMA. (14130498)
1964

Variations for Marinesco-Sjogren Syndrome

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Clinvar genetic disease variations for Marinesco-Sjogren Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SIL1NM_001037633.1(SIL1): c.460C> T (p.Gln154Ter)single nucleotide variantPathogenicrs774441811GRCh37Chr 5, 138362675: 138362675
2SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenic
3SIL1NM_022464.4(SIL1): c.645+1G> Asingle nucleotide variantPathogenicrs794726659GRCh37Chr 5, 138362489: 138362489
4SIL1NM_022464.4(SIL1): c.645+2T> Csingle nucleotide variantPathogenicrs548535414GRCh38Chr 5, 139026799: 139026799
5SIL1NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
6SIL1NM_022464.4(SIL1): c.865_1029delsingle nucleotide variantPathogenicrs777752978GRCh38Chr 5, 138951170: 138951170
7SIL1NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
8SIL1NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro)single nucleotide variantPathogenicrs119456967GRCh37Chr 5, 138282822: 138282822
9SIL1NM_001037633.1(SIL1): c.936dupG (p.Leu313Alafs)duplicationPathogenicrs587776544GRCh38Chr 5, 138951264: 138951264
10SIL1NM_001037633.1(SIL1): c.603_607delGAAGA (p.Glu201Aspfs)deletionPathogenicGRCh38Chr 5, 139026839: 139026843
11SIL1NC_000005.10: g.138975444_139033712deldeletionPathogenicGRCh38Chr 5, 138975444: 139033712

Expression for genes affiliated with Marinesco-Sjogren Syndrome

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Search GEO for disease gene expression data for Marinesco-Sjogren Syndrome.

Pathways for genes affiliated with Marinesco-Sjogren Syndrome

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GO Terms for genes affiliated with Marinesco-Sjogren Syndrome

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Sources for Marinesco-Sjogren Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet