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 13 73
Rmd1 57 53
Rippling Muscle Disease, 1 53
Rippling Muscle Disease-1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see rmd, )


HPO:

32
rippling muscle disease 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600332
Disease Ontology 12 DOID:0070308
MedGen 42 C1838254
SNOMED-CT via HPO 69 263681008 274523007
UMLS 73 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 rmd1, is related to rippling muscle disease 2 and perrault syndrome 1, and has symptoms including muscle cramps, muscle pain and characteristic lateral rolling movement of muscle. An important gene associated with Rippling Muscle Disease 1 is RMD1 (Rippling Muscle Disease 1). Affiliated tissues include skeletal muscle and bone, and related phenotypes are emg abnormality and skeletal muscle hypertrophy

Description 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 11.5
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Rippling Muscle Disease 1

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle mounding
muscle hypertrophy
muscle cramps with exercise
muscle pain with exercise
muscle stiffness with exercise
more

Clinical features from OMIM:

600332

Symptoms:

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

Human phenotypes related to Rippling Muscle Disease 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 32 HP:0003457
2 skeletal muscle hypertrophy 32 HP:0003712
3 exercise-induced myalgia 32 HP:0003738
4 muscle mounding 32 HP:0003719
5 exercise-induced muscle stiffness 32 HP:0008967
6 muscle hyperirritability 32 HP:0003559
7 exercise-induced muscle cramps 32 HP:0003710
8 percussion-induced rapid rolling muscle contractions 32 HP:0003760

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

Genetic Tests for Rippling Muscle Disease 1

Anatomical Context for Rippling Muscle Disease 1

MalaCards organs/tissues related to Rippling Muscle Disease 1:

41
Skeletal Muscle, Bone

Publications for Rippling Muscle Disease 1

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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