Marinesco-Sjogren syndrome
Therapeutic area
Neurology
Rare disease
Yes
- Definition
- Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Marinesco-Sjogren syndrome
- Therapeutic area
- Neurology
- Marinesco-Sjogren syndrome
- MSS
- Marinesco-Sjogren syndrome
- Marshall Smith Syndrome
- Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism
- Marinesco-Sjogren syndrome-myopathy
- Marinesco-Sjogren-Garland syndrome
- All therapeutic areas
- Neurology
- Severity
- Severe
- Genetic
- Hereditary
- Syndromic
- MONDO ID
- MONDO:0009567
- Parent condition
- MONDO:0002254
Related records
Broader conditions (24)
- Atactic disorder
- Autosomal genetic disease
- Autosomal recessive cerebellar ataxia
- Autosomal recessive degenerative and progressive cerebellar ataxia
- Autosomal recessive disease
- Brain disorder
- Central nervous system disorder
- Cerebellar ataxia
- Cerebellar degeneration
- Cerebellar disorder
- Disease
- Disease by body system or component
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Hereditary ataxia
- Hereditary cerebellar ataxia
- Hereditary disease
- Hereditary neurological disease
- Human disease
- Inherited neurodegenerative disorder
Trials (35)
- A Phase I/Ib Study of NZV930 Alone and in Combination With PDR001 and /or NIR178 in Patients With Advanced Malignancies.
- A Phase II Study of Sintilimab Combined With Ipilimumab N01, Cetuximab and Dabrafenib in Patients With Microsatellite-Stable, BRAF V600E-Mutated Metastatic Colorectal Cancer
- A Study to Investigate the Safety, Pharmacokinetics, and Preliminary Efficacy of IDE574 Therapy in Adult Participants With Advanced Solid Tumors
- AN0025 and Pembrolizumab Combination in Advanced Solid Tumors
- Chemotherapy Plus Bevacizumab and Anti-PD-1 Followed by Induction Therapy of Chemotherapy Plus Bevacizumab
- Combined PD-1 and CCR5 Inhibition for the Treatment of Refractory Microsatellite Stable mCRC
- FOLFIRI Plus Bevacizuamb and QL1706 in Second-Line Treatment for mCRC
- FOLFOX Chemotherapy Combined With Fruquintinib and Serplulimab as First-Line Conversion Therapy for Initially Unresectable pMMR/MSS Colorectal Cancer
- ICE Study: Combination of Irinotecan Plus Cetuximab and Envafolimab as a Rechallenge Regimen in mCRC
- Intra-tumoral (IT) Injection of vvDD-hIL2-2-RG-1 for Metastatic Gastrointestinal and Peritoneal Tumors
- Lvosidenib (AK112) Combined With CapeOX and Radiotherapy in Patients With Unresectable Metastatic MSS-type Colorectal Cancer
- NCT + PD1 + Ketogenic Diet and/or Vitamin C for LARC
- Node-Sparing Short-Course Radiation With CAPOX and Sintilimab for MSS Locally Advanced Colon Cancer: A Randomized, Prospective, Multicenter Study
- Phase 1b Study to Evaluate ATP128, VSV-GP128 and BI 754091, in Patients With Stage IV Colorectal Cancer
- QL1101 in Combination With JS001 in Patients With pMMR/MSS Refractory Metastatic Colorectal Cancer
- Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
- Regorafenib and PD-1 Antibody in Combination With Radiotherapy for pMMR/MSS Metastatic Colorectal Cancer
- RP2/RP3 in Combination With Atezolizumab and Bevacizumab for the Treatment of Patients With CRC
- SBRT Combined With CAPEOX, Bevacizumab, and PD-1 Inhibitor for the Treatment of RAS-Mutant, MSS-Type, Unresectable Metastatic Colorectal Cancer.
- SCRT + Chemo Targeted Immuno-neoadjuvant Therapy for High-risk pMMR/MSS RC