MDCMC
MCID: MSC028
MIFTS: 45

Muscular Dystrophy, Congenital, Megaconial Type (MDCMC)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:

Name: Muscular Dystrophy, Congenital, Megaconial Type 57 19 73 71
Megaconial Type Congenital Muscular Dystrophy 11 28 5 14
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 11 19 58
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 11 19 58
Megaconial Congenital Muscular Dystrophy 11 19 58
Congenital Megaconial Myopathy 11 19 58
Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities 57 73
Mdcmc 57 73
Dystrophy, Muscular, Congenital, Megaconial Type 38
Megaconial Congénital Muscular Dystrophy 19

Characteristics:


Inheritance:

Muscular Dystrophy, Congenital, Megaconial Type: Autosomal recessive 57
Megaconial Congenital Muscular Dystrophy: Autosomal recessive 58

Prevelance:

Megaconial Congenital Muscular Dystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Megaconial Congenital Muscular Dystrophy: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
onset at birth
some patients may die from cardiomyopathy in the first or second decade of life


HPO:

30
muscular dystrophy, congenital, megaconial type:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Muscular Dystrophy, Congenital, Megaconial Type

UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center.

MalaCards based summary: Muscular Dystrophy, Congenital, Megaconial Type, also known as megaconial type congenital muscular dystrophy, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Synthesis of PC. Affiliated tissues include skeletal muscle, heart and skin, and related phenotypes are dilated cardiomyopathy and intellectual disability

GARD: 19 A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.

Orphanet: 58 A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.

OMIM®: 57 Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011). (602541) (Updated 08-Dec-2022)

Disease Ontology: 11 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has material basis in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

Diseases related to Muscular Dystrophy, Congenital, Megaconial Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 30.3 PLEC LAMA2 CHKB
2 muscular dystrophy 29.8 SLC25A4 PLEC LAMA2 CHKB-CPT1B CHKB CHKA
3 dilated cardiomyopathy 29.5 SLC25A4 PLEC PINK1 MFF LAMA2 CHKB
4 myopathy 28.2 SLC25A4 PLEC MT-CO2 LAMA2 CHKB CHKA
5 autism 10.3
6 rett syndrome 10.3
7 autism spectrum disorder 10.3
8 muscular atrophy 10.2
9 hypotonia 10.2
10 cystinuria 10.2
11 proximal myopathy with focal depletion of mitochondria 10.2
12 hypotonia-cystinuria syndrome 10.2
13 scoliosis 10.2
14 microcephaly 10.2
15 ichthyosis 10.2
16 hip subluxation 10.2
17 congenital muscular dystrophy with intellectual disability 10.2
18 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.2 CHKB AGK
19 mitochondrial complex iv deficiency, nuclear type 1 10.1
20 isolated cytochrome c oxidase deficiency 10.1
21 creatine phosphokinase, elevated serum 10.1 LAMA2 CHKB
22 sengers syndrome 10.1 SLC25A4 CHKB AGK
23 neuroleptic malignant syndrome 10.1 CHKB CHKA
24 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 LAMA2 CHKB
25 mitochondrial dna depletion syndrome 9.9 SLC25A4 MT-CO2 AGK
26 walker-warburg syndrome 9.9 PLEC LAMA2 CHKB
27 leber hereditary optic neuropathy, modifier of 9.8 SLC25A4 PINK1 MT-CO2
28 mitochondrial myopathy 9.8 SLC25A4 PINK1 MT-CO2 CHKB
29 3-methylglutaconic aciduria, type iii 9.8 SLC25A4 MT-CO2 MFF AGK
30 neuromuscular disease 9.8 PLEC MFF LAMA2 CHKB
31 muscular dystrophy, duchenne type 9.7 MIR409 MIR382 LAMA2 CHKB
32 peripheral nervous system disease 9.7 PINK1 MIR409 MFF LAMA2
33 limb-girdle muscular dystrophy 9.6 PLEC LAMA2 CHKB

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Megaconial Type:



Diseases related to Muscular Dystrophy, Congenital, Megaconial Type

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Megaconial Type

Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 30 Very rare (1%) HP:0001644
2 intellectual disability 30 HP:0001249
3 seizure 30 HP:0001250
4 facial palsy 30 HP:0010628
5 delayed speech and language development 30 HP:0000750
6 microcephaly 30 HP:0000252
7 neonatal hypotonia 30 HP:0001319
8 ichthyosis 30 HP:0008064
9 myopathy 30 HP:0003198
10 elevated circulating creatine kinase concentration 30 HP:0003236
11 waddling gait 30 HP:0002515
12 motor delay 30 HP:0001270
13 muscular dystrophy 30 HP:0003560
14 gowers sign 30 HP:0003391
15 congenital muscular dystrophy 30 HP:0003741
16 poor speech 30 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
muscle weakness
muscular dystrophy
gowers sign
hypotonia, neonatal
variation in fiber size
more
Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
facial muscle weakness

Cardiovascular Heart:
dilated cardiomyopathy (occurs in about 50%)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
waddling gait
delayed motor development
mental retardation
poor speech development
some patients never achieve independent ambulation
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

602541 (Updated 08-Dec-2022)

UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:


muscle weakness; waddling gait; facial paresis

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

Search Clinical Trials, NIH Clinical Center for Muscular Dystrophy, Congenital, Megaconial Type

Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

Genetic tests related to Muscular Dystrophy, Congenital, Megaconial Type:

# Genetic test Affiliating Genes
1 Megaconial Type Congenital Muscular Dystrophy 28 CHKB

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

Organs/tissues related to Muscular Dystrophy, Congenital, Megaconial Type:

MalaCards : Skeletal Muscle, Heart, Skin

Publications for Muscular Dystrophy, Congenital, Megaconial Type

Articles related to Muscular Dystrophy, Congenital, Megaconial Type:

(show all 27)
# Title Authors PMID Year
1
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. 62 57 5
24997086 2014
2
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 62 57 5
21665002 2011
3
A new congenital muscular dystrophy with mitochondrial structural abnormalities. 62 57 5
9427222 1998
4
A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. 57
16371353 2006
5
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
6
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review. 62
36175989 2022
7
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome. 62
35707590 2022
8
Novel CMR findings in megaconial congenital muscular dystrophy. 62
34962344 2022
9
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy. 62
34518586 2021
10
Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. 62
33767318 2021
11
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. 62
33712684 2021
12
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies. 62
32650001 2020
13
A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy. 62
33623274 2020
14
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. 62
31926838 2020
15
Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy. 62
31216357 2019
16
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. 62
30986505 2019
17
Late-onset megaconial myopathy in mice lacking group I Paks. 62
30791960 2019
18
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. 62
27169979 2016
19
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. 62
26855408 2016
20
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 62
26782016 2016
21
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. 62
27123443 2016
22
Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. 62
26006750 2016
23
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. 62
26067811 2015
24
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. 62
23945283 2013
25
Mitochondrial dysfunction in neuromuscular disorders. 62
24331362 2013
26
[New congenital muscular dystrophy due to CHKB mutations]. 62
24291895 2013
27
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. 62
22782513 2012

Variations for Muscular Dystrophy, Congenital, Megaconial Type

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

5 (show top 50) (show all 234)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter) SNV Pathogenic
30952 rs750764003 GRCh37: 22:51018627-51018627
GRCh38: 22:50580198-50580198
2 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.116C>A (p.Ser39Ter) SNV Pathogenic
30953 rs387907068 GRCh37: 22:51021095-51021095
GRCh38: 22:50582666-50582666
3 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.458dup (p.Leu153fs) DUP Pathogenic
30954 rs786205117 GRCh37: 22:51019971-51019972
GRCh38: 22:50581542-50581543
4 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.922C>T (p.Gln308Ter) SNV Pathogenic
30955 rs387907069 GRCh37: 22:51018408-51018408
GRCh38: 22:50579979-50579979
5 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.677+1G>A SNV Pathogenic
30956 rs786205118 GRCh37: 22:51018993-51018993
GRCh38: 22:50580564-50580564
6 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.268del (p.His90fs) DEL Pathogenic
582773 rs1569054508 GRCh37: 22:51020743-51020743
GRCh38: 22:50582314-50582314
7 CHKB-CPT1B, CHKB NC_000022.11:g.(?_50579171)_(50582791_?)del DEL Pathogenic
659590 GRCh37: 22:51017600-51021220
GRCh38: 22:50579171-50582791
8 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) SNV Pathogenic
689474 rs766848672 GRCh37: 22:51017669-51017669
GRCh38: 22:50579240-50579240
9 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter) SNV Pathogenic
1072448 GRCh37: 22:51020995-51020995
GRCh38: 22:50582566-50582566
10 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter) SNV Pathogenic
1075204 GRCh37: 22:51018184-51018184
GRCh38: 22:50579755-50579755
11 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.737-1G>C SNV Pathogenic
1184623 GRCh37: 22:51018701-51018701
GRCh38: 22:50580272-50580272
12 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.463del (p.Thr155fs) DEL Pathogenic
1333660 GRCh37: 22:51019967-51019967
GRCh38: 22:50581538-50581538
13 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.964_967del (p.Lys322fs) MICROSAT Pathogenic
1403550 GRCh37: 22:51018220-51018223
GRCh38: 22:50579791-50579794
14 overlap with 12 genes NC_000022.10:g.(?_50885571)_(51021210_?)del DEL Pathogenic
1407208 GRCh37: 22:50885571-51021210
GRCh38:
15 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.163G>T (p.Glu55Ter) SNV Pathogenic
1423507 GRCh37: 22:51021048-51021048
GRCh38: 22:50582619-50582619
16 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs) INSERT Pathogenic
1456700 GRCh37: 22:51018628-51018629
GRCh38: 22:50580199-50580200
17 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.925C>T (p.Gln309Ter) SNV Pathogenic
1452176 GRCh37: 22:51018405-51018405
GRCh38: 22:50579976-50579976
18 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.400C>T (p.Gln134Ter) SNV Pathogenic
468473 rs1333100080 GRCh37: 22:51020225-51020225
GRCh38: 22:50581796-50581796
19 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.598del (p.Gln200fs) DEL Pathogenic
639037 rs757369551 GRCh37: 22:51019073-51019073
GRCh38: 22:50580644-50580644
20 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.382G>T (p.Glu128Ter) SNV Pathogenic
634595 rs1569054086 GRCh37: 22:51020243-51020243
GRCh38: 22:50581814-50581814
21 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) SNV Pathogenic
451378 rs373091820 GRCh37: 22:51021060-51021060
GRCh38: 22:50582631-50582631
22 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1032-2A>G SNV Likely Pathogenic
536363 rs1555894289 GRCh37: 22:51017938-51017938
GRCh38: 22:50579509-50579509
23 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.927+10C>G SNV Conflicting Interpretations Of Pathogenicity
342170 rs549171476 GRCh37: 22:51018393-51018393
GRCh38: 22:50579964-50579964
24 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1031+12G>A SNV Conflicting Interpretations Of Pathogenicity
899480 rs777277938 GRCh37: 22:51018144-51018144
GRCh38: 22:50579715-50579715
25 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.678-12A>G SNV Conflicting Interpretations Of Pathogenicity
900616 rs749813559 GRCh37: 22:51018857-51018857
GRCh38: 22:50580428-50580428
26 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.234C>G (p.Leu78=) SNV Conflicting Interpretations Of Pathogenicity
902298 rs929019284 GRCh37: 22:51020777-51020777
GRCh38: 22:50582348-50582348
27 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.219C>T (p.Pro73=) SNV Conflicting Interpretations Of Pathogenicity
389435 rs751273046 GRCh37: 22:51020992-51020992
GRCh38: 22:50582563-50582563
28 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1114-6C>T SNV Conflicting Interpretations Of Pathogenicity
706369 rs151123092 GRCh37: 22:51017690-51017690
GRCh38: 22:50579261-50579261
29 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1031+3G>C SNV Conflicting Interpretations Of Pathogenicity
560978 rs751176079 GRCh37: 22:51018153-51018153
GRCh38: 22:50579724-50579724
30 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.565_568del (p.Phe189fs) DEL Conflicting Interpretations Of Pathogenicity
632393 rs752436924 GRCh37: 22:51019862-51019865
GRCh38: 22:50581433-50581436
31 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) SNV Conflicting Interpretations Of Pathogenicity
447030 rs146163970 GRCh37: 22:51020748-51020748
GRCh38: 22:50582319-50582319
32 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) SNV Conflicting Interpretations Of Pathogenicity
638334 rs752292240 GRCh37: 22:51021073-51021073
GRCh38: 22:50582644-50582644
33 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.708C>T (p.Val236=) SNV Conflicting Interpretations Of Pathogenicity
342173 rs141934594 GRCh37: 22:51018815-51018815
GRCh38: 22:50580386-50580386
34 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.457T>C (p.Leu153=) SNV Conflicting Interpretations Of Pathogenicity
259659 rs146693439 GRCh37: 22:51019973-51019973
GRCh38: 22:50581544-50581544
35 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.670A>C (p.Asn224His) SNV Conflicting Interpretations Of Pathogenicity
259661 rs149858290 GRCh37: 22:51019001-51019001
GRCh38: 22:50580572-50580572
36 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) SNV Conflicting Interpretations Of Pathogenicity
128730 rs141381896 GRCh37: 22:51018204-51018204
GRCh38: 22:50579775-50579775
37 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.452G>C (p.Arg151Pro) SNV Uncertain Significance
1716099 GRCh37: 22:51019978-51019978
GRCh38: 22:50581549-50581549
38 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.493G>C (p.Ala165Pro) SNV Uncertain Significance
1720227 GRCh37: 22:51019937-51019937
GRCh38: 22:50581508-50581508
39 CHKB, CHKB-CPT1B NM_005198.4(CHKB):c.-94G>A SNV Uncertain Significance
342181 rs886057639 GRCh37: 22:51021304-51021304
GRCh38: 22:50582875-50582875
40 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.499A>G (p.Ile167Val) SNV Uncertain Significance
1359395 GRCh37: 22:51019931-51019931
GRCh38: 22:50581502-50581502
41 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.104G>C (p.Arg35Pro) SNV Uncertain Significance
1517037 GRCh37: 22:51021107-51021107
GRCh38: 22:50582678-50582678
42 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.359G>A (p.Ser120Asn) SNV Uncertain Significance
1523060 GRCh37: 22:51020266-51020266
GRCh38: 22:50581837-50581837
43 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.944A>G (p.His315Arg) SNV Uncertain Significance
342168 rs199641367 GRCh37: 22:51018243-51018243
GRCh38: 22:50579814-50579814
44 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser) SNV Uncertain Significance
837239 rs2070626951 GRCh37: 22:51017916-51017916
GRCh38: 22:50579487-50579487
45 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.155G>T (p.Trp52Leu) SNV Uncertain Significance
843680 rs1207178552 GRCh37: 22:51021056-51021056
GRCh38: 22:50582627-50582627
46 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1121C>T (p.Ala374Val) SNV Uncertain Significance
844986 rs751958642 GRCh37: 22:51017677-51017677
GRCh38: 22:50579248-50579248
47 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.870C>A (p.His290Gln) SNV Uncertain Significance
849885 rs140020889 GRCh37: 22:51018460-51018460
GRCh38: 22:50580031-50580031
48 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.991C>G (p.Gln331Glu) SNV Uncertain Significance
850471 rs747586997 GRCh37: 22:51018196-51018196
GRCh38: 22:50579767-50579767
49 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.468A>G (p.Gln156=) SNV Uncertain Significance
862445 rs2070691030 GRCh37: 22:51019962-51019962
GRCh38: 22:50581533-50581533
50 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.1085C>T (p.Ser362Phe) SNV Uncertain Significance
645296 rs766753256 GRCh37: 22:51017883-51017883
GRCh38: 22:50579454-50579454

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

73
# Symbol AA change Variation ID SNP ID
1 CHKB p.Glu283Lys VAR_081796
2 CHKB p.Arg377Leu VAR_081801 rs772705206

Expression for Muscular Dystrophy, Congenital, Megaconial Type

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.

Pathways for Muscular Dystrophy, Congenital, Megaconial Type

GO Terms for Muscular Dystrophy, Congenital, Megaconial Type

Cellular components related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 9.76 PLEC PINK1 MFF AGK
2 mitochondrial membrane GO:0031966 9.35 SLC25A4 MT-CO2 MFF AGK
3 obsolete integral component of mitochondrial outer membrane GO:0031307 9.26 PINK1 MFF
4 obsolete integral component of mitochondrial membrane GO:0032592 8.62 SLC25A4 MFF

Biological processes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory electron transport chain GO:0022904 9.76 PLEC PINK1
2 positive regulation of mitochondrial fission GO:0090141 9.73 PINK1 MFF
3 mitochondrion morphogenesis GO:0070584 9.71 PLEC MFF
4 positive regulation of ATP biosynthetic process GO:2001171 9.67 PINK1 MT-CO2
5 phosphatidylcholine biosynthetic process GO:0006656 9.55 CHKB-CPT1B CHKB CHKA
6 phospholipid biosynthetic process GO:0008654 9.43 CHKB CHKA ABHD5
7 phosphatidylethanolamine biosynthetic process GO:0006646 9.35 CHKB-CPT1B CHKB CHKA
8 glycerophospholipid biosynthetic process GO:0046474 9.32 CHKB-CPT1B CHKB
9 CDP-choline pathway GO:0006657 9.02 CHKB-CPT1B CHKB CHKA

Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.63 PINK1 CHKB-CPT1B CHKB CHKA AGK
2 ethanolamine kinase activity GO:0004305 9.35 CHKB-CPT1B CHKB CHKA
3 choline kinase activity GO:0004103 9.02 CHKB-CPT1B CHKB CHKA

Sources for Muscular Dystrophy, Congenital, Megaconial Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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