MSS
MCID: MRN007
MIFTS: 34

Marinesco-Sjögren Syndrome (MSS) malady

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

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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 based summary: Marinesco-Sjögren Syndrome, also known as marinesco-sjogren syndrome, is related to cataract and myopathy, and has symptoms including cataract/lens opacification, strabismus/squint and late puberty/hypogonadism/hypogenitalism. An important gene associated with Marinesco-Sjögren Syndrome is SIL1 (SIL1 nucleotide exchange factor). Affiliated tissues include eye and cerebellum.

Wikipedia:65 Marinesco?Sj 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, 62UMLS, 63UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Marinesco-Sjögren Syndrome, Aliases & Descriptions:

Name: Marinesco-Sjögren Syndrome 19 21 48
Marinesco-Sjogren Syndrome 42 20 22 46 44 62
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism 42 62
Hereditary Oligophrenic Cerebello-Lental Degeneration 21 62
Marinesco-Sjogren Syndrome-Myopathy 42 62
 
Marinesco-Sjogren-Garland Syndrome 42 62
Marinesco-Garland Syndrome 42 21
Garland-Moorhouse Syndrome 21 62
Mss 42 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

UMLS via Orphanet63 C0024814
OMIM46 248800
ICD10 via Orphanet26 G11.1

Related Diseases for Marinesco-Sjögren Syndrome

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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 cancer10.4
4cerebellar ataxia10.3
5optic atrophy10.3
6congenital cataracts, facial dysmorphism, and neuropathy10.3
7mental retardation10.3
8ataxia10.3
9fascioliasis10.1
10colon cancer10.1

Graphical network of diseases related to Marinesco-Sjögren Syndrome:



Diseases related to marinesco-sjögren syndrome

Symptoms for Marinesco-Sjögren Syndrome

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Symptoms by clinical synopsis from OMIM:

248800

Clinical features from OMIM:

248800

Symptoms:

48 (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-Sjögren Syndrome:

(show all 55)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 strabismus hallmark (90%) HP:0000486
3 cataract hallmark (90%) HP:0000518
4 muscular hypotonia hallmark (90%) HP:0001252
5 neurological speech impairment hallmark (90%) HP:0002167
6 incoordination hallmark (90%) HP:0002311
7 myopathy hallmark (90%) HP:0003198
8 short stature hallmark (90%) HP:0004322
9 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
10 cognitive impairment hallmark (90%) HP:0100543
11 nystagmus typical (50%) HP:0000639
12 pectus carinatum typical (50%) HP:0000768
13 brachydactyly syndrome typical (50%) HP:0001156
14 abnormality of the metacarpal bones typical (50%) HP:0001163
15 hypertonia typical (50%) HP:0001276
16 muscle weakness typical (50%) HP:0001324
17 talipes typical (50%) HP:0001883
18 scoliosis typical (50%) HP:0002650
19 amyotrophy typical (50%) HP:0003202
20 abnormality of the hip bone typical (50%) HP:0003272
21 abnormality of movement typical (50%) HP:0100022
22 microcephaly occasional (7.5%) HP:0000252
23 optic atrophy occasional (7.5%) HP:0000648
24 reduced tendon reflexes occasional (7.5%) HP:0001315
25 peripheral neuropathy occasional (7.5%) HP:0009830
26 autosomal recessive inheritance HP:0000007
27 microcephaly HP:0000252
28 strabismus HP:0000486
29 congenital cataract HP:0000519
30 nystagmus HP:0000639
31 hypergonadotropic hypogonadism HP:0000815
32 intellectual disability HP:0001249
33 muscular hypotonia HP:0001252
34 spasticity HP:0001257
35 dysarthria HP:0001260
36 global developmental delay HP:0001263
37 flexion contracture HP:0001371
38 failure to thrive HP:0001508
39 pes planus HP:0001763
40 gait ataxia HP:0002066
41 limb ataxia HP:0002070
42 scoliosis HP:0002650
43 coxa valga HP:0002673
44 kyphosis HP:0002808
45 cubitus valgus HP:0002967
46 myopathy HP:0003198
47 amyotrophy HP:0003202
48 elevated serum creatine phosphokinase HP:0003236
49 progressive muscle weakness HP:0003323
50 infantile onset HP:0003593
51 centrally nucleated skeletal muscle fibers HP:0003687
52 short stature HP:0004322
53 cerebellar cortical atrophy HP:0008278
54 short metacarpal HP:0010049
55 short metatarsal HP:0010743

Drugs & Therapeutics for Marinesco-Sjögren Syndrome

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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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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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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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Variations for Marinesco-Sjögren Syndrome

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Clinvar genetic disease variations for Marinesco-Sjögren Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SIL1SIL1, 4-BP DUP, 506AAGAduplicationPathogenic
2SIL1SIL1, IVS6, G-A, +1single nucleotide variantPathogenic
3SIL1SIL1, IVS6, T-C, +2single nucleotide variantPathogenic
4SIL1NM_001037633.1(SIL1): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs119456965GRCh37Chr 5, 138386649: 138386649
5SIL1SIL1, IVS9, G-A, +1single nucleotide variantPathogenic
6SIL1NM_001037633.1(SIL1): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs119456966GRCh37Chr 5, 138282880: 138282880
7SIL1NM_001037633.1(SIL1): c.1370T> C (p.Leu457Pro)single nucleotide variantPathogenicrs119456967GRCh37Chr 5, 138282822: 138282822
8SIL1SIL1, 1-BP DUP, 936GduplicationPathogenic
9SIL1SIL1, 5-BP DEL, 598GAAGAdeletionPathogenic
10SIL1SIL1, 58-KB DELdeletionPathogenic

Expression for genes affiliated with Marinesco-Sjögren Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet