MYPOP
MCID: MYP139
MIFTS: 41

Myopathy, Proximal, and Ophthalmoplegia (MYPOP)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Proximal, and Ophthalmoplegia

MalaCards integrated aliases for Myopathy, Proximal, and Ophthalmoplegia:

Name: Myopathy, Proximal, and Ophthalmoplegia 58 76
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 58 76
Inclusion Body Myopathy 3, Autosomal Dominant 76 74
Proximal Myopathy and Ophthalmoplegia 58 76
Contracture 45 17
Mypop 58 76
Ibm3 60 76
Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome 60
Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia 60
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly; Ibm3, Formerly 58
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly 58
Inclusion Body Myopathy, Autosomal Dominant 74
Hereditary Inclusion Body Myopathy Type 3 60
Myopathy, Inclusion Body, Type 3 41
Inclusion Body Myopathy Type 3 60
Inclusion Body Myopathy 3 76
Inclusion Body Myopathy-3 13
Ibm3, Formerly 58
Hibm3 60

Characteristics:

Orphanet epidemiological data:

60
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
variable age at onset
nonprogressive or very slowly progressive
contractures at birth or difficulties in the neonatal period resolve
relatively mild phenotype


HPO:

33
myopathy, proximal, and ophthalmoplegia:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Proximal, and Ophthalmoplegia

OMIM : 58 Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). (605637)

MalaCards based summary : Myopathy, Proximal, and Ophthalmoplegia, also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, is related to emery-dreifuss muscular dystrophy and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including generalized muscle weakness and ophthalmoplegia. An important gene associated with Myopathy, Proximal, and Ophthalmoplegia is MYH2 (Myosin Heavy Chain 2), and among its related pathways/superpathways are G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins and miRNA targets in ECM and membrane receptors. Affiliated tissues include prostate, bone and eye, and related phenotypes are ptosis and scoliosis

UniProtKB/Swiss-Prot : 76 Myopathy, proximal, and ophthalmoplegia: A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.

Related Diseases for Myopathy, Proximal, and Ophthalmoplegia

Diseases related to Myopathy, Proximal, and Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 594)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 32.8 EMD LMNA
2 emery-dreifuss muscular dystrophy 1, x-linked 32.4 EMD LMNA
3 bethlem myopathy 1 32.4 COL6A1 COL6A2 LMNA
4 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.1 COL6A2 EMD LMNA
5 collagen vi-related myopathy 31.0 COL6A1 COL6A2
6 ullrich congenital muscular dystrophy 1 31.0 COL6A1 COL6A2 LMNA
7 myopathy, tubular aggregate, 1 30.9 EMD RYR1
8 muscular dystrophy, congenital, lmna-related 30.6 COL6A1 COL6A2 EMD LMNA MYH2
9 rigid spine muscular dystrophy 1 30.6 COL6A2 RYR1
10 congenital fiber-type disproportion 30.5 EMD LMNA RYR1
11 neuromuscular disease 29.6 EMD LMNA RYR1
12 autosomal dominant limb-girdle muscular dystrophy 29.5 EMD LMNA
13 muscle disorders 29.2 COL6A1 COL6A2 RYR1
14 myopathy 29.2 COL6A1 COL6A2 EMD MYH2 RYR1
15 muscular dystrophy 29.0 COL6A1 COL6A2 EMD LMNA RYR1
16 lethal congenital contracture syndrome 1 12.5
17 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 12.5
18 lethal congenital contracture syndrome 2 12.5
19 lethal congenital contracture syndrome 3 12.5
20 dupuytren contracture 12.5
21 lethal congenital contracture syndrome 11 12.5
22 lethal congenital contracture syndrome 4 12.4
23 lethal congenital contracture syndrome 6 12.4
24 lethal congenital contracture syndrome 12.4
25 volkmann contracture 12.4
26 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.4
27 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.4
28 intellectual disability-developmental delay-contractures syndrome 12.3
29 lethal congenital contracture syndrome 7 12.3
30 lethal congenital contracture syndrome 8 12.3
31 alopecia-contractures-dwarfism-intellectual disability syndrome 12.3
32 alopecia-contractures-dwarfism mental retardation syndrome 12.3
33 lethal congenital contracture syndrome 5 12.3
34 lethal congenital contracture syndrome 9 12.3
35 lethal congenital contracture syndrome 10 12.3
36 arthrogryposis, distal, type 9 12.2
37 hydrocephalus-cleft palate-joint contractures syndrome 12.2
38 congenital contractures 12.2
39 scar contracture 12.1
40 bone fragility with contractures, arterial rupture, and deafness 12.1
41 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 12.0
42 restrictive dermopathy, lethal 12.0
43 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism 12.0
44 histiocytosis-lymphadenopathy plus syndrome 11.9
45 contractures, congenital, torticollis, and malignant hyperthermia 11.9
46 craniosynostosis contractures cleft 11.9
47 familial dupuytren contracture 11.9
48 short stature contractures hypotonia 11.9
49 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 11.9
50 contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 11.9

Graphical network of the top 20 diseases related to Myopathy, Proximal, and Ophthalmoplegia:



Diseases related to Myopathy, Proximal, and Ophthalmoplegia

Symptoms & Phenotypes for Myopathy, Proximal, and Ophthalmoplegia

Human phenotypes related to Myopathy, Proximal, and Ophthalmoplegia:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 occasional (7.5%) HP:0000508
2 scoliosis 33 occasional (7.5%) HP:0002650
3 waddling gait 33 occasional (7.5%) HP:0002515
4 scapular winging 33 occasional (7.5%) HP:0003691
5 distal muscle weakness 33 occasional (7.5%) HP:0002460
6 high palate 33 HP:0000218
7 myopathy 33 HP:0003198
8 generalized muscle weakness 33 HP:0003324
9 ophthalmoplegia 33 HP:0000602
10 proximal muscle weakness 33 HP:0003701
11 myopathic facies 33 HP:0002058
12 neck muscle weakness 33 HP:0000467
13 congenital contracture 33 HP:0002803
14 muscle fiber inclusion bodies 33 HP:0100299

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
upper and lower limbs affected
distal muscle weakness (in some patients)
muscle biopsy shows predominance of type 1 fibers
more
Head And Neck Neck:
neck muscle weakness

Skeletal Spine:
scoliosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Skeletal:
contractures at birth (in some patients)

Head And Neck Face:
myopathic facies

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
waddling gait (in some patients)

Head And Neck Eyes:
ptosis (in some patients)
ophthalmoplegia, external

Clinical features from OMIM:

605637

UMLS symptoms related to Myopathy, Proximal, and Ophthalmoplegia:


generalized muscle weakness, ophthalmoplegia

MGI Mouse Phenotypes related to Myopathy, Proximal, and Ophthalmoplegia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 COL6A1 EMD LMNA RYR1

Drugs & Therapeutics for Myopathy, Proximal, and Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Myopathy, Proximal, and Ophthalmoplegia

Cochrane evidence based reviews: contracture

Genetic Tests for Myopathy, Proximal, and Ophthalmoplegia

Anatomical Context for Myopathy, Proximal, and Ophthalmoplegia

MalaCards organs/tissues related to Myopathy, Proximal, and Ophthalmoplegia:

42
Prostate, Bone, Eye, Skin, Brain, Spinal Cord, Tongue

Publications for Myopathy, Proximal, and Ophthalmoplegia

Articles related to Myopathy, Proximal, and Ophthalmoplegia:

# Title Authors Year
1
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. ( 9708547 )
1998

Variations for Myopathy, Proximal, and Ophthalmoplegia

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

76
# Symbol AA change Variation ID SNP ID
1 MYH2 p.Glu706Lys VAR_032630 rs121434589

ClinVar genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

6 (show top 50) (show all 268)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh37 Chromosome 17, 10438454: 10438454
2 MYH2 NM_017534.5(MYH2): c.2116G> A (p.Glu706Lys) single nucleotide variant Pathogenic rs121434589 GRCh38 Chromosome 17, 10535137: 10535137
3 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh37 Chromosome 17, 10426471: 10426471
4 MYH2 NM_017534.5(MYH2): c.5609T> C (p.Leu1870Pro) single nucleotide variant Pathogenic rs786201023 GRCh38 Chromosome 17, 10523154: 10523154
5 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh37 Chromosome 17, 10446191: 10446191
6 MYH2 NM_017534.5(MYH2): c.904+1G> A single nucleotide variant Pathogenic rs879255253 GRCh38 Chromosome 17, 10542874: 10542874
7 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh38 Chromosome 17, 10533379: 10533379
8 MYH2 NM_017534.5(MYH2): c.2347C> T (p.Arg783Ter) single nucleotide variant Pathogenic rs762121316 GRCh37 Chromosome 17, 10436696: 10436696
9 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh37 Chromosome 17, 10438684: 10438684
10 MYH2 NM_017534.5(MYH2): c.1975-2A> G single nucleotide variant Pathogenic rs746770617 GRCh38 Chromosome 17, 10535367: 10535367
11 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh37 Chromosome 17, 10436638: 10436638
12 MYH2 NM_017534.5(MYH2): c.2405T> A (p.Leu802Ter) single nucleotide variant Pathogenic rs758395765 GRCh38 Chromosome 17, 10533321: 10533321
13 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh37 Chromosome 17, 10436643: 10436643
14 MYH2 NM_017534.5(MYH2): c.2400delG (p.Phe801Serfs) deletion Pathogenic rs879255254 GRCh38 Chromosome 17, 10533326: 10533326
15 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh37 Chromosome 17, 10447063: 10447063
16 MYH2 NM_017534.5(MYH2): c.706G> A (p.Ala236Thr) single nucleotide variant Pathogenic rs147708782 GRCh38 Chromosome 17, 10543746: 10543746
17 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh37 Chromosome 17, 10447417: 10447417
18 MYH2 NM_017534.5(MYH2): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs756953958 GRCh38 Chromosome 17, 10544100: 10544100
19 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign/Likely benign rs145039915 GRCh37 Chromosome 17, 10438464: 10438464
20 MYH2 NM_017534.5(MYH2): c.2106C> T (p.Asn702=) single nucleotide variant Benign/Likely benign rs145039915 GRCh38 Chromosome 17, 10535147: 10535147
21 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh37 Chromosome 17, 10436835: 10436835
22 MYH2 NM_017534.5(MYH2): c.2295G> A (p.Gly765=) single nucleotide variant Benign rs79757188 GRCh38 Chromosome 17, 10533518: 10533518
23 MYH2 NM_017534.5(MYH2): c.2304+7T> G single nucleotide variant Benign/Likely benign rs370223713 GRCh37 Chromosome 17, 10436819: 10436819
24 MYH2 NM_017534.5(MYH2): c.2304+7T> G single nucleotide variant Benign/Likely benign rs370223713 GRCh38 Chromosome 17, 10533502: 10533502
25 MYH2 NM_017534.5(MYH2): c.2565G> A (p.Met855Ile) single nucleotide variant Uncertain significance rs184494954 GRCh37 Chromosome 17, 10435082: 10435082
26 MYH2 NM_017534.5(MYH2): c.2565G> A (p.Met855Ile) single nucleotide variant Uncertain significance rs184494954 GRCh38 Chromosome 17, 10531765: 10531765
27 MYH2 NM_017534.5(MYH2): c.2908G> A (p.Val970Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143872329 GRCh37 Chromosome 17, 10433181: 10433181
28 MYH2 NM_017534.5(MYH2): c.2908G> A (p.Val970Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143872329 GRCh38 Chromosome 17, 10529864: 10529864
29 MYH2 NM_017534.5(MYH2): c.3181C> G (p.Leu1061Val) single nucleotide variant Likely benign rs142586585 GRCh37 Chromosome 17, 10432735: 10432735
30 MYH2 NM_017534.5(MYH2): c.3181C> G (p.Leu1061Val) single nucleotide variant Likely benign rs142586585 GRCh38 Chromosome 17, 10529418: 10529418
31 MYH2 NM_017534.5(MYH2): c.3127T> G (p.Ser1043Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs11658164 GRCh37 Chromosome 17, 10432789: 10432789
32 MYH2 NM_017534.5(MYH2): c.3127T> G (p.Ser1043Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs11658164 GRCh38 Chromosome 17, 10529472: 10529472
33 MYH2 NM_017534.5(MYH2): c.3432C> T (p.Asp1144=) single nucleotide variant Benign/Likely benign rs184725551 GRCh37 Chromosome 17, 10432319: 10432319
34 MYH2 NM_017534.5(MYH2): c.3432C> T (p.Asp1144=) single nucleotide variant Benign/Likely benign rs184725551 GRCh38 Chromosome 17, 10529002: 10529002
35 MYH2 NM_017534.5(MYH2): c.5780G> A (p.Arg1927Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34161789 GRCh37 Chromosome 17, 10424643: 10424643
36 MYH2 NM_017534.5(MYH2): c.5780G> A (p.Arg1927Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34161789 GRCh38 Chromosome 17, 10521326: 10521326
37 MYH2 NM_017534.5(MYH2): c.3002delA (p.Glu1001Glyfs) deletion Likely pathogenic rs797045096 GRCh37 Chromosome 17, 10432996: 10432996
38 MYH2 NM_017534.5(MYH2): c.3002delA (p.Glu1001Glyfs) deletion Likely pathogenic rs797045096 GRCh38 Chromosome 17, 10529679: 10529679
39 MYH2 NM_001100112.1(MYH2): c.2414T> C (p.Val805Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200662973 GRCh37 Chromosome 17, 10436629: 10436629
40 MYH2 NM_001100112.1(MYH2): c.2414T> C (p.Val805Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200662973 GRCh38 Chromosome 17, 10533312: 10533312
41 MYH2 NM_017534.5(MYH2): c.4774C> A (p.Leu1592Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138393827 GRCh37 Chromosome 17, 10428271: 10428271
42 MYH2 NM_017534.5(MYH2): c.4774C> A (p.Leu1592Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138393827 GRCh38 Chromosome 17, 10524954: 10524954
43 MYH2 NM_017534.5(MYH2): c.3263+15A> G single nucleotide variant Benign rs2277651 GRCh37 Chromosome 17, 10432638: 10432638
44 MYH2 NM_017534.5(MYH2): c.3263+15A> G single nucleotide variant Benign rs2277651 GRCh38 Chromosome 17, 10529321: 10529321
45 MYH2 NM_017534.5(MYH2): c.3048G> A (p.Leu1016=) single nucleotide variant Likely benign rs145796634 GRCh37 Chromosome 17, 10432950: 10432950
46 MYH2 NM_017534.5(MYH2): c.3048G> A (p.Leu1016=) single nucleotide variant Likely benign rs145796634 GRCh38 Chromosome 17, 10529633: 10529633
47 MYH2 NM_017534.5(MYH2): c.904+10G> A single nucleotide variant Benign rs719277 GRCh37 Chromosome 17, 10446182: 10446182
48 MYH2 NM_017534.5(MYH2): c.904+10G> A single nucleotide variant Benign rs719277 GRCh38 Chromosome 17, 10542865: 10542865
49 MYH2 NM_017534.5(MYH2): c.399T> A (p.Pro133=) single nucleotide variant Benign rs11078850 GRCh37 Chromosome 17, 10448769: 10448769
50 MYH2 NM_017534.5(MYH2): c.399T> A (p.Pro133=) single nucleotide variant Benign rs11078850 GRCh38 Chromosome 17, 10545452: 10545452

Expression for Myopathy, Proximal, and Ophthalmoplegia

Search GEO for disease gene expression data for Myopathy, Proximal, and Ophthalmoplegia.

Pathways for Myopathy, Proximal, and Ophthalmoplegia

Pathways related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 COL6A1 COL6A2 MYH2
2 10.79 COL6A1 COL6A2
3 10.52 COL6A1 COL6A2
4
Show member pathways
10.14 EMD LMNA

GO Terms for Myopathy, Proximal, and Ophthalmoplegia

Cellular components related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 COL6A1 COL6A2 MYH2 RYR1
2 collagen trimer GO:0005581 9.16 COL6A1 COL6A2
3 sarcolemma GO:0042383 8.8 COL6A1 COL6A2 RYR1

Biological processes related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.26 COL6A1 COL6A2
2 protein heterotrimerization GO:0070208 9.16 COL6A1 COL6A2
3 muscle contraction GO:0006936 9.13 EMD MYH2 RYR1
4 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

Molecular functions related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL6A1 COL6A2

Sources for Myopathy, Proximal, and Ophthalmoplegia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GO
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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