RMD1
MCID: RPP007
MIFTS: 19

Rippling Muscle Disease 1 (RMD1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rippling Muscle Disease 1

MalaCards integrated aliases for Rippling Muscle Disease 1:

Name: Rippling Muscle Disease 1 57 12 70
Rippling Muscle Disease, 1 20 44
Rippling Muscle Disease-1 57 13
Rmd1 57 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see rmd, )


HPO:

31
rippling muscle disease 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0070308
OMIM® 57 600332
MeSH 44 C535686
MedGen 41 C1838254
SNOMED-CT via HPO 68 263681008 274523007
UMLS 70 C1838254

Summaries for Rippling Muscle Disease 1

Disease Ontology : 12 A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has material basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has symptom characteristic lateral rolling movement of muscle, has symptom muscle cramps, has symptom muscle pain, has symptom muscle stiffness during or following exercise.

MalaCards based summary : Rippling Muscle Disease 1, also known as rippling muscle disease, 1, is related to rippling muscle disease 2 and renal hypoplasia, and has symptoms including characteristic lateral rolling movement of muscle, muscle cramps and muscle pain. An important gene associated with Rippling Muscle Disease 1 is RMD1 (Rippling Muscle Disease 1). Affiliated tissues include skeletal muscle, and related phenotypes are emg abnormality and skeletal muscle hypertrophy

More information from OMIM: 600332

Related Diseases for Rippling Muscle Disease 1

Diseases in the Rippling Muscle Disease 2 family:

Rippling Muscle Disease 1

Diseases related to Rippling Muscle Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 11.3
2 renal hypoplasia 10.9

Symptoms & Phenotypes for Rippling Muscle Disease 1

Human phenotypes related to Rippling Muscle Disease 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 31 HP:0003457
2 skeletal muscle hypertrophy 31 HP:0003712
3 exercise-induced myalgia 31 HP:0003738
4 exercise-induced muscle cramps 31 HP:0003710
5 percussion-induced rapid rolling muscle contractions 31 HP:0003760
6 exercise-induced muscle stiffness 31 HP:0008967
7 muscle hyperirritability 31 HP:0003559
8 muscle mounding 31 HP:0003719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle hyperirritability
muscle mounding
muscle hypertrophy
muscle cramps with exercise
muscle pain with exercise
more

Clinical features from OMIM®:

600332 (Updated 05-Apr-2021)

Symptoms:

12
  • characteristic lateral rolling movement of muscle
  • muscle cramps
  • muscle pain
  • muscle stiffness during

UMLS symptoms related to Rippling Muscle Disease 1:


exercise-induced myalgia

Drugs & Therapeutics for Rippling Muscle Disease 1

Search Clinical Trials , NIH Clinical Center for Rippling Muscle Disease 1

Cochrane evidence based reviews: rippling muscle disease, 1

Genetic Tests for Rippling Muscle Disease 1

Anatomical Context for Rippling Muscle Disease 1

MalaCards organs/tissues related to Rippling Muscle Disease 1:

40
Skeletal Muscle

Publications for Rippling Muscle Disease 1

Articles related to Rippling Muscle Disease 1:

# Title Authors PMID Year
1
Physical mapping of the rippling muscle disease locus. 61 57
10049580 1999
2
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. 57
7936247 1994
3
Genetic suppression of a phosphomimic myosin II identifies system-level factors that promote myosin II cleavage furrow accumulation. 61
25318674 2014
4
Mapping the translation initiation landscape of an S. cerevisiae gene using fluorescent proteins. 61
23726901 2013
5
Identification of candidate tumor-suppressor genes in 6q27 by combined deletion mapping and electronic expression profiling in lymphoid neoplasms. 61
12800155 2003
6
6q deletions define distinct clinico-pathologic subsets of non-Hodgkin's lymphoma. 61
8104536 1993

Variations for Rippling Muscle Disease 1

Expression for Rippling Muscle Disease 1

Search GEO for disease gene expression data for Rippling Muscle Disease 1.

Pathways for Rippling Muscle Disease 1

GO Terms for Rippling Muscle Disease 1

Sources for Rippling Muscle Disease 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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