MSS
MCID: MRN007
MIFTS: 34

Marinesco-Sjögren Syndrome (MSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Nephrological diseases, Mental diseases categories
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Summaries for Marinesco-Sjögren Syndrome

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Marinesco-Sjögren Syndrome, also known as marinesco-sjogren syndrome, is related to cataract and myopathy, and has symptoms including metacarpal anomalies/archibald's sign, talipes-valgus and hyperkinesia/dyskinesia. An important gene associated with Marinesco-Sjögren Syndrome is SIL1 (SIL1 nucleotide exchange factor). Affiliated tissues include cerebellum and eye.

Wikipedia:65 Marinesco?Sj more...

Description from OMIM:47 248800

GeneReviews summary for mss

Aliases & Classifications for Marinesco-Sjögren Syndrome

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Sources:
62UMLS, 19GeneReviews, 21Genetics Home Reference, 49Orphanet, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

marinesco-sjögren syndrome 19 21 49
marinesco-sjogren syndrome 43 20 22 47 45 62
marinesco-garland syndrome 43 21
mss 43 21
marinesco-sjogren syndrome-hypergonadotrophic hypogonadism 43
hereditary oligophrenic cerebello-lental degeneration 21
marinesco-sjogren syndrome-myopathy 43
marinesco-sjogren-garland syndrome 43
garland-moorhouse syndrome 21
maple syrup urine disease 62


External Ids:

OMIM47 248800
ICD10 via Orphanet26 G11.1
SNOMED-CT via Orphanet59 80734006
UMLS via Orphanet63 C0024814

Related Diseases for Marinesco-Sjögren Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Marinesco-Sjögren Syndrome family:

Marinesco-Sjogren-Like Syndrome

Diseases related to Marinesco-Sjögren Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract10.5
2myopathy10.4
3colorectal cancer10.3
4cerebellar ataxia10.3
5optic atrophy10.3
6congenital cataracts, facial dysmorphism, and neuropathy10.3
7mental retardation10.3
8ataxia10.3
9fascioliasis10.0
10colon cancer10.0

Graphical network of diseases related to Marinesco-Sjögren Syndrome:



Diseases related to marinesco-sjögren syndrome

Symptoms for Marinesco-Sjögren Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

Symptoms:

49 (show all 27)
  • 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
  • short hand/brachydactyly
  • scoliosis
  • pectus carinatum
  • 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
  • cataract/lens opacification

Drugs & Therapeutics for Marinesco-Sjögren Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Marinesco-Sjögren Syndrome

Search NIH Clinical Center for Marinesco-Sjögren Syndrome

Genetic Tests for Marinesco-Sjögren Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Marinesco-Sjögren Syndrome:

id Genetic test Affiliating Genes
1 Marinesco-Sjogren Syndrome20 SIL1
2 Marinesco-Sjögren Syndrome22

Anatomical Context for Marinesco-Sjögren Syndrome

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33MalaCards
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MalaCards organs/tissues related to Marinesco-Sjögren Syndrome:

33
Cerebellum, Eye

Animal Models for Marinesco-Sjögren Syndrome or affiliated genes

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Publications for Marinesco-Sjögren Syndrome

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Variations for Marinesco-Sjögren Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Marinesco-Sjögren Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1BCKDHANM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn)single nucleotide variantPathogenicrs137852870GRCh37Chr 19, 41930487: 41930487
2BCKDHBNM_000056.3(BCKDHB): c.548G> C (p.Arg183Pro)single nucleotide variantPathogenicrs79761867GRCh37Chr 6, 80878662: 80878662
3SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenic
4SIL1SIL1, IVS6, G-A, +1single nucleotide variantPathogenic
5SIL1SIL1, IVS6, T-C, +2single nucleotide variantPathogenic
6SIL1NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
7SIL1SIL1, IVS9, G-A, +1single nucleotide variantPathogenic
8SIL1NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
9SIL1NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro)single nucleotide variantPathogenicrs119456967GRCh37Chr 5, 138282822: 138282822
10SIL1SIL1, 1-BP DUP, 936GduplicationPathogenic
11SIL1SIL1, 5-BP DEL, 598GAAGAdeletionPathogenic
12SIL1SIL1, 58-KB DELdeletionPathogenic
13BCKDHBNM_000056.3(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
14BCKDHBNM_000056.3(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740

Expression for genes affiliated with Marinesco-Sjögren Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Marinesco-Sjögren Syndrome

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

Pathways for genes affiliated with Marinesco-Sjögren Syndrome

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Compounds for genes affiliated with Marinesco-Sjögren Syndrome

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GO Terms for genes affiliated with Marinesco-Sjögren Syndrome

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Products for genes affiliated with Marinesco-Sjögren Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Marinesco-Sjögren Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet