Marinesco-sjogren syndrome

Preferred Label : Marinesco-sjogren syndrome;

Symbol : MSS;

CISMeF acronym : MSS;

Type : Phenotype, molecular basis known;

Description : Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; 604168), which is caused by mutation in the CTDP1 gene (604927) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (Lagier-Tourenne et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SIL1 nucleotide exchange factor gene (SIL1, 608005.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #248800;

Details

Origin ID

248800;

UMLS CUI

C0024814;

Automatic exact mappings (from CISMeF team)
- Mass Spectrometer [NCIt concept]
- Mass Spectrometry [NCIt concept]
- Master of Science [NCIt concept]
- Meter per Second Squared [NCIt concept]
- Metric System [NCIt concept]
- Microsatellite Stable [NCIt concept]
- Millisecond [NCIt concept]
- Millisecond (qualifier value) [SNOMED CT concept]
- Mississippi [NCIt concept]
- Multiple sclerosis [MedDRA Preferred Term]
- SIL1 wt Allele [NCIt concept]
- spinocerebellar degenerations [MeSH Descriptor]
- symbol withdrawn MSS [HGNC gene]
Currated CISMeF NLP mapping
- Marinesco Sjogren syndrome [Disease (Nov.)]
- Marinesco-Sjogren syndrome [DO Concept]
- Marinesco-Sjogren syndrome [MeSH concept]
- Marinesco-Sjögren syndrome [PASCAL descriptor]
- Marinesco-Sjögren syndrome [ICD-11 More detail]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Marinesco-Sjögren syndrome (disorder) [SNOMED CT concept]
- marinesco-sjogren syndrome [SNOMED Notion]
DO Cross reference
- Marinesco-Sjogren syndrome [DO Concept]
False automatic mappings
- Montserrat [NCIt concept]
Genes related to phenotype
- Sil1 nucleotide exchange factor [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Cerebellar cortical atrophy [HPO term]
- Coxa valga [HPO term]
- Cubitus valgus [HPO term]
- Developmental cataract [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Limb ataxia [HPO term]
- Microcephaly [HPO term]
- Myopathic changes on muscle biopsy [HPO term]
- Myopathy [HPO term]
- Nystagmus [HPO term]
- Pes planus [HPO term]
- Progressive muscle weakness [HPO term]
- Psychomotor retardation [HPO term]
- Rimmed vacuoles [HPO term]
- Scoliosis [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Marinesco-Sjögren syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marinesco Sjogren syndrome [Disease (Nov.)]
- Marinesco-Sjogren syndrome [MeSH concept]
- Marinesco-Sjogren syndrome [DO Concept]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Marinesco-Sjögren syndrome [ICD-11 More detail]
- Marinesco-Sjögren syndrome [PASCAL descriptor]
- Marinesco-Sjögren syndrome (disorder) [SNOMED CT concept]
- marinesco-sjogren syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients