MSS
MCID: MRN007
MIFTS: 36

Marinesco-Sjögren Syndrome (MSS) malady

Neuronal diseases, Eye diseases, Fetal diseases, Nephrological diseases categories

Summaries for Marinesco-Sjögren Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 maple syrup urine disease and alpha chain disease, 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 eye and cerebellum.

Wikipedia:63 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

Description from OMIM:46 248800

GeneReviews summary for mss

Aliases & Classifications for Marinesco-Sjögren Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
marinesco-sjögren syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

marinesco-sjögren syndrome 19 21 48
marinesco-sjogren syndrome 42 20 22 46 44 60
marinesco-garland syndrome 42 21
mss 42 21
marinesco-sjogren syndrome-hypergonadotrophic hypogonadism 42
hereditary oligophrenic cerebello-lental degeneration 21
marinesco-sjogren syndrome-myopathy 42
marinesco-sjogren-garland syndrome 42
garland-moorhouse syndrome 21
maple syrup urine disease 60


External Ids:

OMIM46 248800
ICD10 via Orphanet26 G11.1
SNOMED-CT via Orphanet57 80734006
UMLS via Orphanet61 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:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1maple syrup urine disease11.7
2alpha chain disease11.2
3maple syrup urine disease type 211.0
4brain disease11.0
5cerebritis10.9
6phenylketonuria10.9
7liver disease10.8
8maple syrup urine disease type 1a10.7
9maple syrup urine disease type 1b10.7
10peritonitis10.6
11hair disease10.6
12ophthalmoplegia10.6
13neurologic diseases10.6
14maple syrup urine disease type 310.6
15maple syrup urine disease, mild variant10.6
16dihydrolipoamide dehydrogenase deficiency10.6
17acrodermatitis10.5
18congenital hypothyroidism10.5
19homocystinuria10.5
20hypoglycemia10.5
21acrodermatitis enteropathica10.5
22dermatitis10.5
23hypothyroidism10.5
24leukocyte disease10.5
25pancreatitis10.5
26skin disease10.5
27cataract10.5
28corneal disease10.3
29marfan syndrome10.3
30axonal neuropathy10.3
31status epilepticus10.3
32lesch-nyhan syndrome10.3
33argininosuccinic aciduria10.3
34isovaleric acidemia10.3
35tetanus neonatorum10.3
36coats disease10.3
37wernicke encephalopathy10.3
38citrullinemia10.3
39tetralogy of fallot10.3
40propionic acidemia10.3
412-hydroxyglutaric aciduria10.3
42central nervous system disease10.3
43cerebral palsy10.3
44chromosomal disease10.3
45galactosemia10.3
46glucose metabolism disease10.3
47hepatitis10.3
48hypertension10.3
49intracranial hypertension10.3
50lactic acidosis10.3

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



Diseases related to marinesco-sjögren syndrome

Clinical Features for Marinesco-Sjögren Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

248800

Clinical synopsis from OMIM:

248800

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Marinesco-Sjögren Syndrome

Drug clinical trials:

Search ClinicalTrials for Marinesco-Sjögren Syndrome

Search NIH Clinical Center for Marinesco-Sjögren Syndrome

Search CenterWatch for Marinesco-Sjögren Syndrome

Genetic Tests for Marinesco-Sjögren Syndrome

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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Marinesco-Sjögren Syndrome:

32
Eye, Cerebellum

Animal Models for Marinesco-Sjögren Syndrome or affiliated genes

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Publications for Marinesco-Sjögren Syndrome

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Genetic Variations for Marinesco-Sjögren Syndrome

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Expression for genes affiliated with Marinesco-Sjögren Syndrome

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Sources:
1BioGPS, 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
  • Lysates
  • Antibodies

Sources for Marinesco-Sjögren Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet