CMS12
MCID: MYS074
MIFTS: 45

Myasthenic Syndrome, Congenital, 12 (CMS12)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 12

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 12:

Name: Myasthenic Syndrome, Congenital, 12 57 72
Congenital Myasthenic Syndrome 12 12 29 6 15
Cms12 57 12 72
Myasthenic Syndrome, Congenital, with Tubular Aggregates 1 57 70
Myasthenia, Congenital, 12, with Tubular Aggregates 57 29
Myasthenia, Congenital, with Tubular Aggregates 1 72 13
Cmsta1 57 72
Myasthenic Syndrome, Congenital, with Tubular Aggregates 1; Cmsta1 57
Myasthenic Syndrome, Congenital, with Tubular Aggregates, 1 72
Congenital Myasthenia 12 with Tubular Aggregates 12
Limb-Girdle Myasthenia with Tubular Aggregates 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first decade
favorable response to acetylcholinesterase inhibitors
distinct disorder from acquired limb-girdle myasthenia and congenital limb-girdle myasthenia


HPO:

31
myasthenic syndrome, congenital, 12:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110660
OMIM® 57 610542
OMIM Phenotypic Series 57 PS601462 PS610542
MeSH 44 D020294
UMLS 70 C3552335

Summaries for Myasthenic Syndrome, Congenital, 12

UniProtKB/Swiss-Prot : 72 Myasthenic syndrome, congenital, 12: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.

MalaCards based summary : Myasthenic Syndrome, Congenital, 12, also known as congenital myasthenic syndrome 12, is related to myopathy and congenital myasthenic syndrome, and has symptoms including waddling gait, muscle cramp and facial paresis. An important gene associated with Myasthenic Syndrome, Congenital, 12 is GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac muscle contraction. Related phenotypes are motor delay and ptosis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has material basis in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.

OMIM® : 57 Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (610542) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 12

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19

Diseases related to Myasthenic Syndrome, Congenital, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.5 TNNT2 TFAM MYL2 MYH6 MT-CYB GFPT1
2 congenital myasthenic syndrome 29.3 TNNT2 MYH6 MT-CYB GJA1 GFPT1 FAT1
3 myasthenia gravis 10.3
4 mental retardation, autosomal dominant 30 10.1 MT-CYB CLPP
5 codas syndrome 10.1 LONP1 DNAJA3 CLPP
6 myoclonic epilepsy associated with ragged-red fibers 10.1 TFAM MT-RNR1 MT-CYB
7 spinocerebellar ataxia 45 10.0 THY1 FAT1
8 perrault syndrome 10.0 TFAM LONP1 CLPP
9 myasthenic syndrome, congenital, 20, presynaptic 10.0 TNNT2 MYH6
10 bart-pumphrey syndrome 9.9 MT-RNR1 GJA1
11 leber hereditary optic neuropathy, modifier of 9.9 TFAM MT-RNR1 MT-CYB
12 tricuspid valve disease 9.8 TNNT2 MYH6
13 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 TFAM MT-RNR1 MT-CYB
14 mobitz type ii atrioventricular block 9.7 TNNT2 THY1 MYH6
15 sinoatrial node disease 9.7 MYH6 GJA1
16 restrictive cardiomyopathy 9.7 TNNT2 MYL2 MYH6 MT-RNR1
17 double outlet right ventricle 9.6 MYH6 MESP1 GJA1
18 primary cutaneous amyloidosis 9.6 TNNT2 MYL7 MYL2 MYH6
19 cardiomyopathy, familial hypertrophic, 1 9.6 TNNT2 MYL7 MYL2 MYH6
20 heart septal defect 9.6 TNNT2 MYH6 GJA1
21 neuromuscular disease 9.5 MYH6 MT-CYB GJA1 GFPT1
22 atrial heart septal defect 9.5 TNNT2 MYH6 GJA1
23 hypoplastic left heart syndrome 9.4 TNNT2 MYH6 MESP1 GJA1
24 tetralogy of fallot 9.4 TNNT2 MYH6 MESP1 GJA1
25 intrinsic cardiomyopathy 9.4 TNNT2 MYL2 MYH6 GJA1
26 heart conduction disease 9.3 TNNT2 MYL2 MYH6 GJA1
27 brugada syndrome 9.3 TNNT2 MYL2 MYH6 GJA1
28 hypertrophic cardiomyopathy 9.0 TNNT2 MYL7 MYL2 MYH6 MT-CYB GJA1
29 dilated cardiomyopathy 9.0 TNNT2 TFAM MYL2 MYH6 MT-CYB GJA1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 12:



Diseases related to Myasthenic Syndrome, Congenital, 12

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 12

Human phenotypes related to Myasthenic Syndrome, Congenital, 12:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 motor delay 31 occasional (7.5%) HP:0001270
2 ptosis 31 HP:0000508
3 facial palsy 31 HP:0010628
4 waddling gait 31 HP:0002515
5 easy fatigability 31 HP:0003388
6 ophthalmoparesis 31 HP:0000597
7 proximal amyotrophy 31 HP:0007126
8 mildly elevated creatine kinase 31 HP:0008180
9 fatigable weakness 31 HP:0003473
10 muscle spasm 31 HP:0003394
11 neck muscle weakness 31 HP:0000467
12 gowers sign 31 HP:0003391
13 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 HP:0003403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
waddling gait
easy fatigability
gowers sign
muscle cramps
proximal muscle weakness due to defect at the neuromuscular junction
more
Head And Neck Eyes:
absence of ophthalmoparesis
ptosis (less common)

Head And Neck Face:
facial weakness

Respiratory:
respiratory muscle weakness may occur

Head And Neck Neck:
neck muscle weakness

Laboratory Abnormalities:
mildly increased serum creatine kinase

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Muscle Soft Tissue:
muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

Clinical features from OMIM®:

610542 (Updated 05-Apr-2021)

UMLS symptoms related to Myasthenic Syndrome, Congenital, 12:


waddling gait; muscle cramp; facial paresis

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CLPP DNAJA3 FAT1 GFPT1 GJA1 HPRT1
2 cardiovascular system MP:0005385 10.22 DNAJA3 FAT1 GJA1 HPRT1 MESP1 MYH6
3 homeostasis/metabolism MP:0005376 10.21 CLPP DNAJA3 FAT1 GFPT1 GJA1 HPRT1
4 cellular MP:0005384 10.2 CLPP DNAJA3 GJA1 HPRT1 LONP1 MESP1
5 embryo MP:0005380 10.17 CLPP DNAJA3 GJA1 HPRT1 LONP1 MESP1
6 mortality/aging MP:0010768 10.17 CLPP DNAJA3 FAT1 GFPT1 GJA1 HPRT1
7 muscle MP:0005369 10 DNAJA3 FAT1 GFPT1 GJA1 HPRT1 MESP1
8 nervous system MP:0003631 9.85 FAT1 GFPT1 GJA1 HPRT1 LONP1 MESP1
9 normal MP:0002873 9.56 DNAJA3 GJA1 HPRT1 MESP1 MYL2 PKN2
10 respiratory system MP:0005388 9.17 GJA1 HPRT1 MESP1 MYH6 MYL2 PKN2

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 12

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 12

Genetic Tests for Myasthenic Syndrome, Congenital, 12

Genetic tests related to Myasthenic Syndrome, Congenital, 12:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 12 29 GFPT1
2 Myasthenia, Congenital, 12, with Tubular Aggregates 29

Anatomical Context for Myasthenic Syndrome, Congenital, 12

Publications for Myasthenic Syndrome, Congenital, 12

Articles related to Myasthenic Syndrome, Congenital, 12:

(show all 16)
# Title Authors PMID Year
1
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. 57 6
30635494 2019
2
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. 57 6
21310273 2011
3
Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases. 57 6
12467753 2002
4
An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family. 57 6
8664562 1996
5
Molecular characterization of congenital myasthenic syndromes in Spain. 6
29054425 2017
6
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. 6
28712002 2017
7
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. 6
28464723 2017
8
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. 6
25765662 2015
9
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. 6
23488891 2014
10
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. 6
23794683 2013
11
Dok-7 mutations underlie a neuromuscular junction synaptopathy. 57
16917026 2006
12
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. 57
16870884 2006
13
Familial limb-girdle myasthenia with tubular aggregates. 57
9140367 1997
14
Familial neuromuscular disease with type 1 fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. 57
568732 1978
15
Familial limb-girdle myasthenia. 57
5910898 1966
16
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. 61
32754643 2020

Variations for Myasthenic Syndrome, Congenital, 12

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 12:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFPT1 NM_001244710.2(GFPT1):c.224dup (p.Gln76fs) Duplication Pathogenic 29736 GRCh37: 2:69590801-69590802
GRCh38: 2:69363669-69363670
2 GFPT1 NM_001244710.2(GFPT1):c.719G>A SNV Pathogenic 29737 rs1574066341 GRCh37: 2:69581411-69581411
GRCh38: 2:69354279-69354279
3 GFPT1 NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr) SNV Pathogenic 29738 rs1574058076 GRCh37: 2:69573045-69573045
GRCh38: 2:69345913-69345913
4 GFPT1 NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) SNV Pathogenic 29739 rs387906638 GRCh37: 2:69601210-69601210
GRCh38: 2:69374078-69374078
5 GFPT1 NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer) Deletion Pathogenic 29740 rs1574066599 GRCh37: 2:69581685-69581685
GRCh38: 2:69354553-69354553
6 GFPT1 NM_001244710.1(GFPT1):c.686-2A>G SNV Pathogenic 540353 rs1011196447 GRCh37: 2:69581446-69581446
GRCh38: 2:69354314-69354314
7 GFPT1 NM_002056.4(GFPT1):c.197_201del (p.Val66fs) Deletion Pathogenic 583230 rs1558773839 GRCh37: 2:69597155-69597159
GRCh38: 2:69370023-69370027
8 GFPT1 NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) SNV Pathogenic 631477 rs922548333 GRCh37: 2:69601212-69601212
GRCh38: 2:69374080-69374080
9 GFPT1 NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) SNV Pathogenic 631478 rs1558761046 GRCh37: 2:69585552-69585552
GRCh38: 2:69358420-69358420
10 GFPT1 NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) SNV Pathogenic 570975 rs1558749457 GRCh37: 2:69575330-69575330
GRCh38: 2:69348198-69348198
11 GFPT1 NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) Deletion Pathogenic 836225 GRCh37: 2:69601163-69601164
GRCh38: 2:69374031-69374032
12 GFPT1 NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) SNV Pathogenic 859066 GRCh37: 2:69575348-69575348
GRCh38: 2:69348216-69348216
13 GFPT1 NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) SNV Pathogenic/Likely pathogenic 29735 rs201322234 GRCh37: 2:69590695-69590695
GRCh38: 2:69363563-69363563
14 GFPT1 NM_001244710.2(GFPT1):c.1106-1G>T SNV Likely pathogenic 963082 GRCh37: 2:69569382-69569382
GRCh38: 2:69342250-69342250
15 FAT1 NM_005245.4(FAT1):c.2598_2599CA[1] (p.Thr867fs) Microsatellite Likely pathogenic 804450 rs1579484850 GRCh37: 4:187628381-187628382
GRCh38: 4:186707227-186707228
16 GFPT1 NC_000002.12:g.(?_69363535)_(69363680_?)del Deletion Likely pathogenic 833366 GRCh37: 2:69590667-69590812
GRCh38:
17 GFPT1 NM_002056.4(GFPT1):c.408+5G>A SNV Likely pathogenic 617539 rs1558762013 GRCh37: 2:69586395-69586395
GRCh38: 2:69359263-69359263
18 GFPT1 NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) SNV Likely pathogenic 617540 rs775399768 GRCh37: 2:69601203-69601203
GRCh38: 2:69374071-69374071
19 GFPT1 NM_002056.4(GFPT1):c.1051+1G>A SNV Likely pathogenic 540351 rs1553389102 GRCh37: 2:69573035-69573035
GRCh38: 2:69345903-69345903
20 GFPT1 NM_002056.4(GFPT1):c.224-10T>C SNV Conflicting interpretations of pathogenicity 473133 rs777508704 GRCh37: 2:69590812-69590812
GRCh38: 2:69363680-69363680
21 GFPT1 NM_002056.4(GFPT1):c.956-10A>G SNV Conflicting interpretations of pathogenicity 473138 rs753072061 GRCh37: 2:69573141-69573141
GRCh38: 2:69346009-69346009
22 GFPT1 NM_002056.4(GFPT1):c.1828G>A (p.Val610Ile) SNV Conflicting interpretations of pathogenicity 435319 rs190072721 GRCh37: 2:69555414-69555414
GRCh38: 2:69328282-69328282
23 GFPT1 NM_001244710.2(GFPT1):c.*22C>A SNV Conflicting interpretations of pathogenicity 208585 rs199678034 GRCh37: 2:69553299-69553299
GRCh38: 2:69326167-69326167
24 GFPT1 NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly) SNV Uncertain significance 1032796 GRCh37: 2:69575410-69575410
GRCh38: 2:69348278-69348278
25 GFPT1 NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser) SNV Uncertain significance 1035357 GRCh37: 2:69556894-69556894
GRCh38: 2:69329762-69329762
26 GFPT1 NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met) SNV Uncertain significance 1040054 GRCh37: 2:69554146-69554146
GRCh38: 2:69327014-69327014
27 GFPT1 NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr) SNV Uncertain significance 1042443 GRCh37: 2:69556530-69556530
GRCh38: 2:69329398-69329398
28 GFPT1 NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu) SNV Uncertain significance 1046188 GRCh37: 2:69583644-69583644
GRCh38: 2:69356512-69356512
29 GFPT1 NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) SNV Uncertain significance 1047057 GRCh37: 2:69597135-69597135
GRCh38: 2:69370003-69370003
30 GFPT1 NM_002056.4(GFPT1):c.134_154dup (p.Gly45_Glu51dup) Duplication Uncertain significance 571927 rs1558773904 GRCh37: 2:69597201-69597202
GRCh38: 2:69370069-69370070
31 GFPT1 NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) SNV Uncertain significance 846342 GRCh37: 2:69581674-69581674
GRCh38: 2:69354542-69354542
32 GFPT1 NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly) SNV Uncertain significance 853426 GRCh37: 2:69554179-69554179
GRCh38: 2:69327047-69327047
33 GFPT1 NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) SNV Uncertain significance 934354 GRCh37: 2:69586440-69586440
GRCh38: 2:69359308-69359308
34 GFPT1 NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys) SNV Uncertain significance 949806 GRCh37: 2:69575429-69575429
GRCh38: 2:69348297-69348297
35 GFPT1 NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly) SNV Uncertain significance 970588 GRCh37: 2:69590781-69590781
GRCh38: 2:69363649-69363649
36 GFPT1 NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly) Indel Uncertain significance 964739 GRCh37: 2:69590695-69590696
GRCh38: 2:69363563-69363564
37 GFPT1 NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) SNV Uncertain significance 968944 GRCh37: 2:69585584-69585584
GRCh38: 2:69358452-69358452
38 GFPT1 NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys) SNV Uncertain significance 969856 GRCh37: 2:69577250-69577250
GRCh38: 2:69350118-69350118
39 GFPT1 NC_000002.11:g.(?_69597123)_(69597250_?)del Deletion Uncertain significance 999344 GRCh37: 2:69597123-69597250
GRCh38:
40 GFPT1 NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe) SNV Uncertain significance 1007914 GRCh37: 2:69565100-69565100
GRCh38: 2:69337968-69337968
41 GFPT1 NM_002056.4(GFPT1):c.1124G>C (p.Gly375Ala) SNV Uncertain significance 473124 rs1553388425 GRCh37: 2:69569309-69569309
GRCh38: 2:69342177-69342177
42 GFPT1 NM_002056.4(GFPT1):c.362T>C (p.Ile121Thr) SNV Uncertain significance 645814 rs753866967 GRCh37: 2:69586446-69586446
GRCh38: 2:69359314-69359314
43 GFPT1 NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp) SNV Uncertain significance 855967 GRCh37: 2:69614198-69614198
GRCh38: 2:69387066-69387066
44 GFPT1 NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser) SNV Uncertain significance 943692 GRCh37: 2:69601138-69601138
GRCh38: 2:69374006-69374006
45 GFPT1 NM_001244710.2(GFPT1):c.484A>C (p.Asn162His) SNV Uncertain significance 954609 GRCh37: 2:69585520-69585520
GRCh38: 2:69358388-69358388
46 GFPT1 NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly) SNV Uncertain significance 969711 GRCh37: 2:69590787-69590787
GRCh38: 2:69363655-69363655
47 GFPT1 NM_002056.4(GFPT1):c.329A>G (p.Gln110Arg) SNV Uncertain significance 336879 rs886056261 GRCh37: 2:69590697-69590697
GRCh38: 2:69363565-69363565
48 GFPT1 NC_000002.11:g.(?_69553299)_(69614213_?)dup Duplication Uncertain significance 1022725 GRCh37: 2:69553299-69614213
GRCh38:
49 GFPT1 NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) SNV Uncertain significance 1023199 GRCh37: 2:69554165-69554165
GRCh38: 2:69327033-69327033
50 GFPT1 NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala) SNV Uncertain significance 1025055 GRCh37: 2:69556544-69556544
GRCh38: 2:69329412-69329412

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 12:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 GFPT1 p.Thr15Ala VAR_065339 rs387906638
2 GFPT1 p.Thr15Met VAR_065340 rs751097758
3 GFPT1 p.Asp43Val VAR_065341
4 GFPT1 p.Arg111Cys VAR_065342 rs201322234
5 GFPT1 p.Ile121Thr VAR_065343 rs753866967
6 GFPT1 p.Val199Phe VAR_065344 rs137886499
7 GFPT1 p.Asp366Tyr VAR_065345
8 GFPT1 p.Arg403His VAR_065346 rs136349864
9 GFPT1 p.Arg452His VAR_065347
10 GFPT1 p.Met509Thr VAR_065348 rs155872860
11 GFPT1 p.Met510Thr VAR_065349
12 GFPT1 p.Arg514Trp VAR_065350
13 GFPT1 p.Arg530Trp VAR_065351 rs102458594

Expression for Myasthenic Syndrome, Congenital, 12

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 12.

Pathways for Myasthenic Syndrome, Congenital, 12

Pathways related to Myasthenic Syndrome, Congenital, 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 TNNT2 THY1 GJA1
2 11.2 TNNT2 MYL2 MYH6 MT-CYB
3 11.19 TNNT2 MYL2 MYH6
4 10.75 TNNT2 THY1 MYL2 MYH6 MESP1

GO Terms for Myasthenic Syndrome, Congenital, 12

Cellular components related to Myasthenic Syndrome, Congenital, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.14 TNNT2 THY1 TFAM PKN2 MYL7 MYL2
2 mitochondrial matrix GO:0005759 9.73 TFAM LONP1 DNAJA3 CLPP
3 sarcomere GO:0030017 9.43 TNNT2 MYL2 MYH6
4 A band GO:0031672 9.37 MYL7 MYL2
5 myosin complex GO:0016459 9.33 MYL7 MYL2 MYH6
6 cardiac myofibril GO:0097512 9.32 TNNT2 MYL2
7 mitochondrial nucleoid GO:0042645 9.13 TFAM LONP1 DNAJA3
8 myofibril GO:0030016 8.8 TNNT2 MYL2 MYH6

Biological processes related to Myasthenic Syndrome, Congenital, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.5 TNNT2 MYL7 MYH6
2 regulation of the force of heart contraction GO:0002026 9.37 MYL2 MYH6
3 mitochondrion organization GO:0007005 9.33 TFAM LONP1 DNAJA3
4 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 9.26 LONP1 CLPP
5 muscle filament sliding GO:0030049 9.13 TNNT2 MYL2 MYH6
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 8.8 TNNT2 MYL2 MYH6

Molecular functions related to Myasthenic Syndrome, Congenital, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent peptidase activity GO:0004176 8.96 LONP1 CLPP
2 mitochondrial promoter sequence-specific DNA binding GO:0001018 8.62 TFAM LONP1

Sources for Myasthenic Syndrome, Congenital, 12

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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