MARUPS
MCID: MRB007
MIFTS: 6

Marbach-Rustad Progeroid Syndrome (MARUPS)

Categories: Genetic diseases

Aliases & Classifications for Marbach-Rustad Progeroid Syndrome

MalaCards integrated aliases for Marbach-Rustad Progeroid Syndrome:

Name: Marbach-Rustad Progeroid Syndrome 57
Marups 57

Classifications:



External Ids:

OMIM® 57 619322

Summaries for Marbach-Rustad Progeroid Syndrome

OMIM® : 57 Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019). (619322) (Updated 20-May-2021)

MalaCards based summary : Marbach-Rustad Progeroid Syndrome, is also known as marups. An important gene associated with Marbach-Rustad Progeroid Syndrome is LEMD2 (LEM Domain Nuclear Envelope Protein 2).

Related Diseases for Marbach-Rustad Progeroid Syndrome

Symptoms & Phenotypes for Marbach-Rustad Progeroid Syndrome

Clinical features from OMIM®:

619322 (Updated 20-May-2021)

Drugs & Therapeutics for Marbach-Rustad Progeroid Syndrome

Search Clinical Trials , NIH Clinical Center for Marbach-Rustad Progeroid Syndrome

Genetic Tests for Marbach-Rustad Progeroid Syndrome

Anatomical Context for Marbach-Rustad Progeroid Syndrome

Publications for Marbach-Rustad Progeroid Syndrome

Articles related to Marbach-Rustad Progeroid Syndrome:

# Title Authors PMID Year
1
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. 57
30905398 2019

Variations for Marbach-Rustad Progeroid Syndrome

Expression for Marbach-Rustad Progeroid Syndrome

Search GEO for disease gene expression data for Marbach-Rustad Progeroid Syndrome.

Pathways for Marbach-Rustad Progeroid Syndrome

GO Terms for Marbach-Rustad Progeroid Syndrome

Sources for Marbach-Rustad Progeroid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....