MSS
MCID: MRN007
MIFTS: 31

Marinesco-Sjögren Syndrome (MSS) malady

Neuronal, Eye, Fetal, Nephrological categories

Summaries for Marinesco-Sjögren Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 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 brain disease and phenylketonuria, and has symptoms including autosomal recessive inheritance, scoliosis and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. An important gene associated with Marinesco-Sjögren Syndrome is SIL1 (SIL1 nucleotide exchange factor). Affiliated tissues include skeletal muscle.

Wikipedia:64 Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder. more...

Description from OMIM:47 248800

GeneReviews summary for mss

Aliases & Classifications for Marinesco-Sjögren Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Nephrological


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

marinesco-sjögren syndrome 19 49
marinesco-sjogren syndrome 43 20 22 47 45 61
marinesco-sjogren syndrome-hypergonadotrophic hypogonadism 43
branched-chain ketoacid dehydrogenase deficiency 19
marinesco-sjogren syndrome-myopathy 43
marinesco-sjogren-garland syndrome 43
branched-chain ketoaciduria 19
marinesco-garland syndrome 43
maple syrup urine disease 61
maple syrup disease 19
bckd deficiency 19
msud 19
mss 43


External Ids:

OMIM47 248800
ICD10 via Orphanet26 G11.1
SNOMED-CT via Orphanet58 80734006
UMLS via Orphanet62 C0024814

Related Diseases for Marinesco-Sjögren Syndrome

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1brain disease11.0
2phenylketonuria10.9
3sjogren's syndrome10.8
4lip disease10.8
5nutrition disease10.7
6marinesco-sj�gren syndrome10.6
7maple syrup urine disease type 310.6
8acrodermatitis10.5
9congenital hypothyroidism10.5
10homocystinuria10.5
11hypoglycemia10.5
12acrodermatitis enteropathica10.5
13enteropathica10.5
14brain injury10.5
15maple syrup urine disease type 210.5
16maple syrup urine disease10.4
17corneal disease10.4
18axonal neuropathy10.4
19status epilepticus10.4
20lesch-nyhan syndrome10.4
21argininosuccinic aciduria10.4
22isovaleric acidemia10.4
23tetanus neonatorum10.4
24wernicke encephalopathy10.4
25citrullinemia10.4
26fabry disease10.4
27spinal cord disease10.4
28tetanus10.4
29dent's disease10.4
30hyperphenylalaninemia10.4
31aminoaciduria10.4
32brainstem auditory evoked responses10.4
33neonatal hypothyroidism10.4
34myoclonus10.4
35spasticity10.4
36memory impairment10.4
37blindness10.4
38psychomotor disease10.4
39colorectal cancer10.3
40lipoamide dehydrogenase deficiency10.3
41congenital cataracts, facial dysmorphism, and neuropathy10.3
42behr syndrome10.3
43mental retardation10.3
44ataxia10.3
45cataract, congenital10.3
46maple syrup urine disease type 1b10.2
47marfan syndrome10.1
48mckusick-kaufman syndrome10.1
49mcleod neuroacanthocytosis syndrome10.1
50dihydrolipoamide dehydrogenase deficiency10.1

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



Diseases related to marinesco-sjögren syndrome

Clinical Features for Marinesco-Sjögren Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

248800

Clinical synopsis from OMIM:

248800

Symptoms:

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

Drugs & Therapeutics for Marinesco-Sjögren Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

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

33
Skeletal muscle

Animal Models for Marinesco-Sjögren Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Marinesco-Sjögren Syndrome

Genetic Variations for Marinesco-Sjögren Syndrome

Expression for genes affiliated with Marinesco-Sjögren Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Marinesco-Sjögren Syndrome

GO Terms for genes affiliated with Marinesco-Sjögren Syndrome

Products for genes affiliated with Marinesco-Sjögren Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marinesco-Sjögren Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet