MMD
MCID: MLT028
MIFTS: 43

Multiminicore Disease (MMD)

Categories: Cancer diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Multiminicore Disease

MalaCards integrated aliases for Multiminicore Disease:

Name: Multiminicore Disease 43 58 29 6
Multi-Minicore Disease 43 36
Multiminicore Myopathy 43 58
Mmd 43 58
Minicore Myopathy with External Ophthalmoplegia 70
Multi-Core Congenital Myopathy 43
Multicore Myopathy 43
Multi-Core Disease 43
Minicore Myopathy 43
Multicore Disease 43
Minicore Disease 43

Characteristics:

Orphanet epidemiological data:

58
multiminicore myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01310
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 71 C0270962
Orphanet 58 ORPHA598
UMLS 70 C1850674

Summaries for Multiminicore Disease

MedlinePlus Genetics : 43 Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. The forms of multiminicore disease are the classic form, the progressive form with hand involvement, the antenatal form with arthrogryposis, and the ophthalmoplegic form.The classic form accounts for about 75 percent of cases of multiminicore disease. This form causes muscle weakness beginning in infancy or early childhood. The muscles of the torso and neck (axial muscles) are most affected with arm and leg muscles less so. Muscle weakness causes affected infants to appear "floppy" (hypotonic) and they may have feeding problems early in life. Muscle weakness can delay the development of motor skills such as sitting, standing, and walking. In this form, the muscles of the ribcage and spine become stiff. In addition, the muscles needed for breathing are weak. This combination of muscle weakness and stiffness leads to severe or life-threatening respiratory problems. Almost all children with the classic form develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens over time.The progressive form with hand involvement causes muscle weakness and looseness of the joints (joint laxity) in the arms and hands. Individuals with this form may experience muscle pain (myalgia) or extreme fatigue in response to physical activity (exercise intolerance). This form accounts for about 10 percent of cases of multiminicore disease.The antenatal form with arthrogryposis is characterized by stiff, rigid joints throughout the body (arthrogryposis) and distinctive facial features. Weakness in the muscles needed for breathing can result in breathing problems for affected individuals. This form also accounts for about 10 percent of cases of multiminicore disease.The ophthalmoplegic form of multiminicore disease is characterized by paralysis of the eye muscles (external ophthalmoplegia). This can lead to abnormal eye movements and droopy eyelids (ptosis). This form of the condition can also cause weakness in the muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. The ophthalmoplegic form accounts for 5 to 10 percent of cases of multiminicore disease.Many people with multiminicore disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate (tachycardia) and body temperature (hyperthermia), abnormally fast breathing (tachypnea), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.Multiminicore disease gets its name from small, disorganized areas called minicores, which are found in skeletal muscle cells of many affected individuals. These abnormal regions can only been seen when muscle tissue is viewed under a microscope. Minicores are often present in cells with few or no mitochondria, which are the energy-producing centers within cells. Although the presence of minicores can help doctors diagnose multiminicore disease, it is unclear how they are related to muscle weakness and the other features of this condition.

MalaCards based summary : Multiminicore Disease, also known as multi-minicore disease, is related to rigid spine muscular dystrophy 1 and central core disease of muscle, and has symptoms including ophthalmoplegia, generalized muscle weakness and edema. An important gene associated with Multiminicore Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Calcium signaling pathway and Long-term depression. Affiliated tissues include eye, skeletal muscle and skin, and related phenotypes are congenital muscular dystrophy and minicore myopathy

KEGG : 36 Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined by localized multiple areas of mitochondrial depletion and sarcomere disorganization, running to a limited extent along the longitudinal axis of muscle fiber ("minicores"). Marked clinical variability corresponds to genetic heterogeneity. Mutations in the SEPN1 gene have been identified in patients with the classic axial phenotype characterized by spinal rigidity, early scoliosis, and respiratory impairment, whereas mutations in the RYR1 gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement.

Wikipedia : 73 Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and... more...

Related Diseases for Multiminicore Disease

Diseases related to Multiminicore Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 32.0 TTN SELENON RYR1
2 central core disease of muscle 31.8 SELENON RYR1
3 malignant hyperthermia 31.7 SELENON RYR1
4 central core myopathy 30.3 SELENON RYR1
5 myopathy, congenital, with fiber-type disproportion 30.0 SELENON RYR1
6 myopathy, distal, 1 29.9 TTN RYR1
7 restrictive cardiomyopathy 29.7 TTN-AS1 TTN
8 batten-turner congenital myopathy 29.6 TTN-AS1 TTN SELENON RYR1
9 muscular dystrophy 29.4 TTN-AS1 TTN SELENON RYR1
10 centronuclear myopathy 29.3 TTN-AS1 TTN SELENON RYR1
11 congenital fiber-type disproportion 29.3 TTN SELENON RYR1 MEGF10
12 muscular dystrophy, congenital, lmna-related 29.2 TTN-AS1 TTN SELENON RYR1
13 neuromuscular disease 29.2 TTN-AS1 TTN SELENON RYR1
14 scoliosis 29.1 TTN-AS1 TTN SELENON RYR1 MEGF10
15 respiratory failure 29.0 TTN-AS1 TTN SELENON RYR1 MEGF10
16 myopathy 28.7 TTN-AS1 TTN SELENON RYR1 MEGF10 FXR1
17 minicore myopathy with external ophthalmoplegia 11.6
18 minicore myopathy, antenatal onset, with arthrogryposis 11.2
19 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 11.1
20 antenatal multiminicore disease with arthrogryposis multiplex congenita 11.1
21 miyoshi muscular dystrophy 1 11.0
22 myopathy, congenital, bailey-bloch 10.1 SELENON RYR1
23 muscular disease 10.1 TTN RYR1
24 bone structure disease 10.1 SELENON RYR1
25 myopathy, centronuclear, x-linked 10.1 TTN RYR1
26 hyaline body myopathy 10.1 TTN SELENON
27 myopathy, myofibrillar, 1 10.0 TTN SELENON
28 bethlem myopathy 1 10.0 SELENON RYR1
29 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 TTN SELENON
30 primary cutaneous amyloidosis 10.0 TTN RYR1
31 pain agnosia 10.0
32 myopathy, congenital, with respiratory insufficiency and bone fractures 10.0
33 myopathy, congenital proximal, with minicore lesions 10.0
34 childhood spinal muscular atrophy 10.0
35 spinal muscular atrophy 10.0
36 chronic progressive external ophthalmoplegia 10.0
37 muscular atrophy 10.0
38 malignant hyperthermia susceptibility 10.0
39 multicore disease 10.0
40 myopathy, myofibrillar, 5 10.0 TTN SELENON
41 myopathy, centronuclear, 2 10.0 TTN RYR1
42 atrial standstill 1 10.0
43 hirschsprung disease 1 10.0
44 acyl-coa dehydrogenase, short-chain, deficiency of 10.0
45 multiple pterygium syndrome, escobar variant 10.0
46 ptosis 10.0
47 microcephaly 10.0
48 hypertrophic cardiomyopathy 10.0
49 dilated cardiomyopathy 10.0
50 ectodermal dysplasia 10.0

Graphical network of the top 20 diseases related to Multiminicore Disease:



Diseases related to Multiminicore Disease

Symptoms & Phenotypes for Multiminicore Disease

Human phenotypes related to Multiminicore Disease:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003741
2 minicore myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003789
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
9 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
10 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
11 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
12 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
13 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 abnormal muscle fiber morphology 31 frequent (33%) HP:0004303
16 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
17 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
18 external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000544
19 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
20 respiratory insufficiency 58 Frequent (79-30%)
21 myopathy 58 Very frequent (99-80%)
22 abnormality of muscle fibers 58 Frequent (79-30%)

UMLS symptoms related to Multiminicore Disease:


ophthalmoplegia; generalized muscle weakness; edema; exercise-induced myalgia; facial paresis

MGI Mouse Phenotypes related to Multiminicore Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 FXR1 RYR1 SELENON TTN

Drugs & Therapeutics for Multiminicore Disease

Search Clinical Trials , NIH Clinical Center for Multiminicore Disease

Genetic Tests for Multiminicore Disease

Genetic tests related to Multiminicore Disease:

# Genetic test Affiliating Genes
1 Multiminicore Disease 29 SELENON

Anatomical Context for Multiminicore Disease

MalaCards organs/tissues related to Multiminicore Disease:

40
Eye, Skeletal Muscle, Skin

Publications for Multiminicore Disease

Articles related to Multiminicore Disease:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
2
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 6
25476234 2014
3
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. 6
24091937 2013
4
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 6
22473935 2012
5
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. 6
21795085 2011
6
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. 6
21911697 2011
7
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. 6
21062345 2011
8
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 6
20839240 2010
9
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 6
20080402 2010
10
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 6
18253926 2008
11
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 6
17483490 2007
12
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? 6
17226826 2007
13
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 6
16380615 2005
14
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. 6
12719381 2003
15
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. 6
12136074 2002
16
Familial multicore disease with focal loss of cross-striations and ophthalmoplegia. 6
7299413 1981
17
Core myopathies - a short review. 61
33458581 2020
18
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. 61
32499372 2020
19
An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene. 61
32272370 2020
20
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. 61
31044239 2019
21
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. 61
30932294 2019
22
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. 61
30689883 2019
23
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. 61
30612914 2019
24
Therapeutic Aspects in Congenital Myopathies. 61
31060727 2019
25
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. 61
30715496 2019
26
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. 61
30406384 2018
27
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. 61
28547000 2017
28
Congenital myopathies: not only a paediatric topic. 61
27538056 2016
29
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. 61
26802438 2016
30
Characterization of excitation-contraction coupling components in human extraocular muscles. 61
25387602 2015
31
The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models? 61
25424378 2015
32
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies]. 61
25331388 2014
33
Obstetric outcome in a primigravid patient with autosomal-recessive multiminicore myopathy. 61
24413229 2014
34
Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes. 61
25148524 2014
35
Unclassified cardiomyopathies in neuromuscular disorders. 61
24154801 2013
36
Left ventricular noncompaction in a patient with multiminicore disease. 61
20729748 2012
37
Core myopathies. 61
22172419 2011
38
Multiminicore disease with respiratory failure. 61
21397173 2011
39
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 61
20937510 2011
40
Core myopathies and risk of malignant hyperthermia. 61
19762745 2009
41
A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy. 61
19513315 2008
42
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 61
17951086 2008
43
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. 61
18054510 2008
44
Functional effects of mutations identified in patients with multiminicore disease. 61
17365175 2007
45
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. 61
17033962 2006
46
Mutations in RYR1 in malignant hyperthermia and central core disease. 61
16917943 2006
47
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 61
16779558 2006
48
Central core disease is due to RYR1 mutations in more than 90% of patients. 61
16621918 2006
49
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. 61
16084090 2005
50
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 61
15792869 2005

Variations for Multiminicore Disease

ClinVar genetic disease variations for Multiminicore Disease:

6 (show top 50) (show all 539)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1 , TTN NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter) SNV Pathogenic 870629 GRCh37: 2:179425041-179425041
GRCh38: 2:178560314-178560314
2 RYR1 NM_000540.2(RYR1):c.14647-1449A>G SNV Pathogenic 12987 rs193922886 GRCh37: 19:39074134-39074134
GRCh38: 19:38583494-38583494
3 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) SNV Pathogenic 12989 rs118192174 GRCh37: 19:38990601-38990601
GRCh38: 19:38499961-38499961
4 RYR1 NM_000540.2(RYR1):c.14365-2A>T SNV Pathogenic 12990 rs193922870 GRCh37: 19:39070620-39070620
GRCh38: 19:38579980-38579980
5 RYR1 NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe) SNV Pathogenic 12991 rs193922836 GRCh37: 19:39013751-39013751
GRCh38: 19:38523111-38523111
6 RYR1 NM_000540.2(RYR1):c.2097_2123del (p.Glu699_Gly707del) Deletion Pathogenic 190957 rs876661306 GRCh37: 19:38948856-38948882
GRCh38: 19:38458216-38458242
7 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) Microsatellite Pathogenic 133180 rs121918596 GRCh37: 19:38990285-38990287
GRCh38: 19:38499645-38499647
8 RYR1 NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) SNV Pathogenic 65996 rs118192140 GRCh37: 19:39063944-39063944
GRCh38: 19:38573304-38573304
9 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 GRCh37: 19:39075629-39075629
GRCh38: 19:38584989-38584989
10 RYR1 NM_000540.2(RYR1):c.7215del (p.Phe2406fs) Deletion Pathogenic 561102 rs1568501473 GRCh37: 19:38990548-38990548
GRCh38: 19:38499908-38499908
11 RYR1 NM_000540.2(RYR1):c.4496_4497del (p.Phe1499fs) Deletion Pathogenic 617750 rs1568476203 GRCh37: 19:38969115-38969116
GRCh38: 19:38478475-38478476
12 RYR1 NM_000540.2(RYR1):c.2505del (p.Pro836fs) Deletion Pathogenic 212099 rs797045932 GRCh37: 19:38951155-38951155
GRCh38: 19:38460515-38460515
13 RYR1 NM_000540.2(RYR1):c.6664-2A>G SNV Pathogenic 544381 rs1346257891 GRCh37: 19:38987047-38987047
GRCh38: 19:38496407-38496407
14 RYR1 NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter) SNV Pathogenic 870624 GRCh37: 19:38991252-38991252
GRCh38: 19:38500612-38500612
15 RYR1 NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) SNV Pathogenic 12976 rs118192176 GRCh37: 19:38985219-38985219
GRCh38: 19:38494579-38494579
16 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Pathogenic 161361 rs377178986 GRCh37: 19:39034060-39034060
GRCh38: 19:38543420-38543420
17 RYR1 NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) SNV Pathogenic 12984 rs118192168 GRCh37: 19:39071043-39071043
GRCh38: 19:38580403-38580403
18 RYR1 NM_001042723.2(RYR1):c.1739_1742dup (p.His581fs) Duplication Pathogenic 12994 rs193922771 GRCh37: 19:38946337-38946338
GRCh38: 19:38455697-38455698
19 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 GRCh37: 19:38990310-38990310
GRCh38: 19:38499670-38499670
20 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 GRCh37: 19:38990310-38990310
GRCh38: 19:38499670-38499670
21 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 GRCh37: 19:39013756-39013756
GRCh38: 19:38523116-38523116
22 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 GRCh37: 19:39013756-39013756
GRCh38: 19:38523116-38523116
23 RYR1 NM_000540.3(RYR1):c.325C>T SNV Pathogenic 12988 rs118192173 GRCh37: 19:38934252-38934252
GRCh38: 19:38443612-38443612
24 RYR1 NM_001042723.2(RYR1):c.5724_5725AG[1] (p.Glu1909fs) Microsatellite Pathogenic 29876 rs387906681 GRCh37: 19:38979993-38979994
GRCh38: 19:38489353-38489354
25 RYR1 NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) SNV Pathogenic 65396 rs193922879 GRCh37: 19:39071022-39071022
GRCh38: 19:38580382-38580382
26 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 GRCh37: 19:38987106-38987106
GRCh38: 19:38496466-38496466
27 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 GRCh37: 19:39013851-39013851
GRCh38: 19:38523211-38523211
28 RYR1 NM_000540.3(RYR1):c.11314C>T SNV Likely pathogenic 478159 rs763112609 GRCh37: 19:39025414-39025414
GRCh38: 19:38534774-38534774
29 RYR1 NM_000540.3(RYR1):c.177dup (p.Asp60fs) Duplication Likely pathogenic 1030857 GRCh37: 19:38932994-38932995
GRCh38: 19:38442354-38442355
30 RYR1 NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter) SNV Likely pathogenic 1030862 GRCh37: 19:38996020-38996020
GRCh38: 19:38505380-38505380
31 RYR1 NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) SNV Likely pathogenic 807480 rs1600649879 GRCh37: 19:38937165-38937165
GRCh38: 19:38446525-38446525
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.102795_102797TAA[1] (p.Asn34266del) Microsatellite Likely pathogenic 290291 rs886044414 GRCh37: 2:179398542-179398544
GRCh38: 2:178533815-178533817
33 RYR1 NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys) SNV Likely pathogenic 973242 GRCh37: 19:39075637-39075637
GRCh38: 19:38584997-38584997
34 RYR1 NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe) SNV Likely pathogenic 870619 GRCh37: 19:38964131-38964131
GRCh38: 19:38473491-38473491
35 RYR1 NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn) SNV Likely pathogenic 870620 GRCh37: 19:38968510-38968510
GRCh38: 19:38477870-38477870
36 RYR1 NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr) SNV Likely pathogenic 870621 GRCh37: 19:38973937-38973937
GRCh38: 19:38483297-38483297
37 RYR1 NM_000540.3(RYR1):c.658C>T (p.Arg220Cys) SNV Likely pathogenic 870622 GRCh37: 19:38937138-38937138
GRCh38: 19:38446498-38446498
38 RYR1 NM_000540.2(RYR1):c.9716T>A (p.Met3239Lys) SNV Likely pathogenic 617753 rs371027185 GRCh37: 19:39008029-39008029
GRCh38: 19:38517389-38517389
39 RYR1 NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) SNV Likely pathogenic 65996 rs118192140 GRCh37: 19:39063944-39063944
GRCh38: 19:38573304-38573304
40 RYR1 NM_000540.2(RYR1):c.6274+1G>A SNV Likely pathogenic 478250 rs1226228092 GRCh37: 19:38983277-38983277
GRCh38: 19:38492637-38492637
41 RYR1 NM_000540.2(RYR1):c.2119G>A (p.Gly707Ser) SNV Uncertain significance 161368 rs376526576 GRCh37: 19:38948884-38948884
GRCh38: 19:38458244-38458244
42 RYR1 NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) SNV Uncertain significance 161370 rs150495044 GRCh37: 19:38964051-38964051
GRCh38: 19:38473411-38473411
43 RYR1 NM_000540.2(RYR1):c.12219T>A (p.Ser4073=) SNV Uncertain significance 329114 rs764395582 GRCh37: 19:39038997-39038997
GRCh38: 19:38548357-38548357
44 RYR1 NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) SNV Uncertain significance 329008 rs755973279 GRCh37: 19:38958370-38958370
GRCh38: 19:38467730-38467730
45 RYR1 NM_000540.2(RYR1):c.10042C>T (p.Arg3348Cys) SNV Uncertain significance 329095 rs118204421 GRCh37: 19:39009877-39009877
GRCh38: 19:38519237-38519237
46 RYR1 NM_000540.2(RYR1):c.6407G>A (p.Arg2136His) SNV Uncertain significance 329051 rs530885842 GRCh37: 19:38985124-38985124
GRCh38: 19:38494484-38494484
47 RYR1 NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) SNV Uncertain significance 198328 rs61739911 GRCh37: 19:39003006-39003006
GRCh38: 19:38512366-38512366
48 RYR1 NM_000540.2(RYR1):c.10260-12C>T SNV Uncertain significance 329097 rs779541890 GRCh37: 19:39013656-39013656
GRCh38: 19:38523016-38523016
49 RYR1 NM_000540.2(RYR1):c.8079G>A (p.Pro2693=) SNV Uncertain significance 329075 rs368063600 GRCh37: 19:38995399-38995399
GRCh38: 19:38504759-38504759
50 RYR1 NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) SNV Uncertain significance 284165 rs149185729 GRCh37: 19:38986960-38986960
GRCh38: 19:38496320-38496320

Expression for Multiminicore Disease

Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for Multiminicore Disease

Pathways related to Multiminicore Disease according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Long-term depression hsa04730

GO Terms for Multiminicore Disease

Cellular components related to Multiminicore Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 TTN RYR1
2 I band GO:0031674 8.62 TTN RYR1

Biological processes related to Multiminicore Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 TTN RYR1
2 muscle organ development GO:0007517 8.96 MEGF10 FXR1
3 skeletal muscle fiber development GO:0048741 8.62 SELENON RYR1

Molecular functions related to Multiminicore Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 TTN SELENON RYR1

Sources for Multiminicore Disease

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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