MCID: MSC124
MIFTS: 50

Muscular Dystrophy, Congenital malady

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Muscular Dystrophy, Congenital

About this section

Aliases & Descriptions for Muscular Dystrophy, Congenital:

Name: Muscular Dystrophy, Congenital 49 11
Congenital Muscular Dystrophy 10 21 45 22 12 24 65
Cmd 45 22
Craniometaphyseal Dysplasia, Autosomal Dominant 65
Muscular Dystrophy, Congenital, Lmna-Related 65
 
Muscular Dystrophy Congenital Lmna-Related 67
Coronary Microvascular Disease 65
Congenital Md 45
Mdcl 67
Mdc 45

Characteristics:

HPO:

61
muscular dystrophy, congenital:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive, variable expressivity


Classifications:



External Ids:

OMIM49 613205
Disease Ontology10 DOID:0050557
ICD9CM29 359.0
MedGen34 C2750785
MeSH36 D009136
UMLS65 C2937300, C0699743, C1852502 C2827469, C2750785, more

Summaries for Muscular Dystrophy, Congenital

About this section
NIH Rare Diseases:45 Congenital muscular dystrophy (cmd) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. the severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). cmd can be caused by a variety of different genes. most forms are inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/22/2015

MalaCards based summary: Muscular Dystrophy, Congenital, also known as congenital muscular dystrophy, is related to muscular dystrophy, rigid spine, 1 and ullrich congenital muscular dystrophy 1, and has symptoms including abnormality of the neck, muscle weakness and muscular hypotonia. An important gene associated with Muscular Dystrophy, Congenital is LMNA (Lamin A/C), and among its related pathways are ECM proteoglycans and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include heart, brain and skeletal muscle, and related mouse phenotypes are vision/eye and craniofacial.

Disease Ontology:10 A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.

UniProtKB/Swiss-Prot:67 Muscular dystrophy congenital LMNA-related: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

Wikipedia:68 Congenital muscular dystrophies is autosomal recessively inherited diseases which are a group of... more...

Description from OMIM:49 613205

GeneReviews summary for NBK1291

Related Diseases for Muscular Dystrophy, Congenital

About this section

Diseases in the Muscular Dystrophy family:

muscular dystrophy, congenital Muscular Dystrophy, Congenital, 1b
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Due to Lmna Mutation Congenital Muscular Dystrophy Type 1a
Muscular Dystrophy - Late Onset Progressive Muscular Dystrophy

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, rigid spine, 132.0DMD, MDCMP, SEPN1
2ullrich congenital muscular dystrophy 131.7COL6A1, COL6A2, COL6A3, LAMA2, LMNA, SEPN1
3muscular dystrophy-dystroglycanopathy , type b, 431.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
4muscular dystrophy, congenital, due to itga7 deficiency12.5
5muscular dystrophy, congenital merosin-deficient12.5
6muscular dystrophy, congenital, megaconial type12.5
7muscular dystrophy, congenital, 1b12.4
8muscular dystrophy, congenital, merosin-positive12.4
9muscular dystrophy, congenital, infantile with cataract and hypogonadism12.3
10craniometaphyseal dysplasia11.7
11muscular dystrophy-dystroglycanopathy , type a, 411.6
12congenital muscular dystrophy due to lmna mutation11.6
13congenital muscular dystrophy type 1a11.6
14congenital muscular dystrophy with integrin alpha-7 deficiency11.6
15fukuyama type muscular dystrophy11.6
16muscular dystrophy-dystroglycanopathy , type a, 111.5
17muscular dystrophy-dystroglycanopathy , type b, 511.5
18congenital disorder of glycosylation, type ie11.4
19muscular dystrophy-dystroglycanopathy , type b, 311.3
20muscular dystrophy-dystroglycanopathy , type b, 111.3
21muscular dystrophy-dystroglycanopathy , type b, 211.3
22muscular dystrophy-dystroglycanopathy , type b, 611.3
23lama2-related muscular dystrophy11.3
24fkrp-related muscle diseases11.3
25sepn1-related multiminicore disease11.3
26knobloch syndrome, type 110.3COL6A1, COL6A2
27cylindrical spirals myopathy10.3ITGA7, LMNA, SEPN1
28aldosterone-producing adenoma with seizures and neurological abnormalities10.3FKRP, FKTN, POMT1
29tooth agenesis10.2FKRP, POMT2
30efemp2-related cutis laxa10.1DMD, UTRN
31congenital fiber-type disproportion10.1COL6A3, ITGA7, SEPN1
32dystonia 2710.1COL6A1, COL6A2, COL6A3
33congenital disorders of n-linked glycosylation pathway10.1COL6A1, COL6A2, COL6A3
34autism spectrum disorder-epilepsy-arthrogryposis syndrome10.1FKRP, LARGE, POMT1, POMT2
35lmna-related muscle diseases10.1DMD, FKRP
36cartilage disease10.1DMD, FKRP, LMNA
37myasthenia gravis10.1COL6A1, COL6A2, COL6A3
38cardiomyopathy, hypertrophic, 2510.0DMD, FKRP
39progressive non-fluent aphasia10.0DMD, FKRP, POMT2
40muscular dystrophy, limb-girdle, type 2b10.0DMD, FKRP
41acute lymphocytic leukemia10.0
42muscular dystrophy10.0
43congenital muscular dystrophy without intellectual disability10.0FKRP, POMGNT1, POMT1, POMT2
44dermatosis papulosa nigra10.0DMD, LAMA2, UTRN
45cardiomyopathy, dilated, 1l9.9DMD, FKRP
46glycogen storage disease 0, muscle9.9FKRP, LAMA2, POMGNT2
47lyme disease9.9DMD, LAMA2, LMNA, SEPN1
48drug-induced hepatitis9.9DMD, FKTN, LAMA2, LMNA
49histiocytoma9.8COL6A1, COL6A2, COL6A3, ITGA7
50cerebral-cerebellar-coloboma syndrome, x-linked9.8DMD, LAMA2

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



Diseases related to muscular dystrophy, congenital

Symptoms for Muscular Dystrophy, Congenital

About this section

Symptoms by clinical synopsis from OMIM:

613205

Clinical features from OMIM:

613205

HPO human phenotypes related to Muscular Dystrophy, Congenital:

(show all 33)
id Description Frequency HPO Source Accession
1 abnormality of the neck hallmark (90%) HP:0000464
2 muscle weakness hallmark (90%) HP:0001324
3 muscular hypotonia typical (50%) HP:0001252
4 gait disturbance typical (50%) HP:0001288
5 flexion contracture typical (50%) HP:0001371
6 limitation of joint mobility typical (50%) HP:0001376
7 respiratory insufficiency typical (50%) HP:0002093
8 developmental regression typical (50%) HP:0002376
9 myopathy typical (50%) HP:0003198
10 skeletal muscle atrophy typical (50%) HP:0003202
11 spinal rigidity typical (50%) HP:0003306
12 hyperlordosis typical (50%) HP:0003307
13 emg abnormality typical (50%) HP:0003457
14 cognitive impairment typical (50%) HP:0100543
15 narrow chest occasional (7.5%) HP:0000774
16 joint hypermobility occasional (7.5%) HP:0001382
17 prenatal movement abnormality occasional (7.5%) HP:0001557
18 congestive heart failure occasional (7.5%) HP:0001635
19 abnormality of the ankles occasional (7.5%) HP:0003028
20 decreased body weight occasional (7.5%) HP:0004325
21 arrhythmia occasional (7.5%) HP:0011675
22 neck muscle weakness HP:0000467
23 motor delay HP:0001270
24 flexion contracture HP:0001371
25 failure to thrive HP:0001508
26 decreased fetal movement HP:0001558
27 talipes HP:0001883
28 respiratory insufficiency due to muscle weakness HP:0002747
29 elevated serum creatine phosphokinase HP:0003236
30 spinal rigidity HP:0003306
31 generalized amyotrophy HP:0003700
32 congenital muscular dystrophy HP:0003741
33 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Muscular Dystrophy, Congenital

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Drugs for Muscular Dystrophy, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lamotrigineapproved, investigationalPhase 317984057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
2
Vitamin Capproved, nutraceuticalPhase 2, Phase 342450-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
3AntioxidantsPhase 2, Phase 32442
4MicronutrientsPhase 2, Phase 33901
5AnticonvulsantsPhase 32249
6VitaminsPhase 2, Phase 33857
7Sodium Channel BlockersPhase 31180
8Protective AgentsPhase 2, Phase 35651
9Trace ElementsPhase 2, Phase 33900
10calcium channel blockersPhase 31743
11Neurotransmitter AgentsPhase 314795
12Diuretics, Potassium SparingPhase 31445
13Calcium, DietaryPhase 34678
14Excitatory Amino Acid AntagonistsPhase 31095
15Excitatory Amino AcidsPhase 31109
16
Oxandroloneapproved, investigationalPhase 11553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
17Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 19988
18HormonesPhase 111748
19AndrogensPhase 11162
20Anabolic AgentsPhase 1375
21Hormone AntagonistsPhase 110002
22
Mentholapproved19992216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
23Pharmaceutical Solutions7004
24Vaccines6085
25Immunologic Factors18483

Interventional clinical trials:

(show all 37)
idNameStatusNCT IDPhase
1Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
2High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
3Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
4Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
5Pediatric Radio Frequency Coils GenericRecruitingNCT01633866Phase 1, Phase 2
6Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)RecruitingNCT01805024Phase 1
7Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 1
8MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
9Aerobic Training in Patients With Congenital MyopathiesCompletedNCT02020187
10A Randomized Exercise Trial for Wheelchair UsersCompletedNCT00866112
11Study of Electrical Impedance Myography (EIM) in ALSCompletedNCT02011204
12Development and Validation of a Disability Severity Index for CMTCompletedNCT01455623
13Survey of Current Management of Orthopaedic Complications in CMT PatientsCompletedNCT02001038
14Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
15Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular DystrophyRecruitingNCT02153970
16Flu Vaccine Study in Neuromuscular Patients 2011RecruitingNCT01422200
17Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
18Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
19Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
20European Home Mechanical Ventilation RegistryRecruitingNCT02315339
21Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
22Myotonic Dystrophy Family RegistryRecruitingNCT02398786
23Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244
24A Peer E-mentoring Intervention to Improve EmploymentRecruitingNCT02522507
25Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
26Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)RecruitingNCT02194010
27Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMTRecruitingNCT01203085
28Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
29Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
30Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
31A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular DystrophyActive, not recruitingNCT01836627
32Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
33Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
34WREX Outcome StudyEnrolling by invitationNCT02218593
35Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsNot yet recruitingNCT02428673
36LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028
37Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart DiseaseWithdrawnNCT01300221

Search NIH Clinical Center for Muscular Dystrophy, Congenital

Genetic Tests for Muscular Dystrophy, Congenital

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Genetic tests related to Muscular Dystrophy, Congenital:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy22 SEPN1

Anatomical Context for Muscular Dystrophy, Congenital

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MalaCards organs/tissues related to Muscular Dystrophy, Congenital:

33
Heart, Brain, Skeletal muscle, Lung, Testes

Animal Models for Muscular Dystrophy, Congenital or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6COL6A3, DAG1, DMD, FKRP, LARGE, LMNA
2MP:00053828.4B3GNT2, FKRP, LAMA2, LARGE, LMNA, POMGNT1
3MP:00053908.0COL6A3, DMD, FKRP, ITGA7, LAMA2, LARGE
4MP:00053767.1DAG1, DMD, FKRP, FKTN, ITGA7, LAMA2
5MP:00053867.0B3GNT2, DAG1, DMD, FKRP, FKTN, ITGA7
6MP:00053696.8COL6A1, COL6A3, DAG1, DMD, FKRP, FKTN
7MP:00107686.6DAG1, DMD, FKRP, FKTN, ITGA7, LAMA2
8MP:00036316.4B3GNT2, DAG1, DMD, FKRP, FKTN, ITGA7
9MP:00053846.3B3GNT2, COL6A3, DAG1, DMD, FKRP, FKTN
10MP:00053784.9B3GNT2, COL6A2, COL6A3, DAG1, DMD, FKRP

Publications for Muscular Dystrophy, Congenital

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Articles related to Muscular Dystrophy, Congenital:

idTitleAuthorsYear
1
Shc phosphotyrosine-binding domain dominantly interacts with epidermal growth factor receptors and mediates Ras activation in intact cells. (9544989)
1998

Variations for Muscular Dystrophy, Congenital

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

67
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg50ProVAR_009972rs60695352
2LMNAp.Glu358LysVAR_009985
3LMNAp.Asn39SerVAR_063588
4LMNAp.Arg249TrpVAR_063589
5LMNAp.Leu302ProVAR_063590
6LMNAp.Leu380SerVAR_063591
7LMNAp.Arg453ProVAR_063592
8LMNAp.Arg455ProVAR_063593
9LMNAp.Asn456AspVAR_063594

Clinvar genetic disease variations for Muscular Dystrophy, Congenital:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.428C> T (p.Ser143Phe)single nucleotide variantPathogenicrs58912633GRCh37Chr 1, 156100479: 156100479
2LMNANM_170707.3(LMNA): c.1139T> C (p.Leu380Ser)single nucleotide variantPathogenicrs121912495GRCh37Chr 1, 156105894: 156105894
3LMNANM_170707.3(LMNA): c.745C> T (p.Arg249Trp)single nucleotide variantPathogenicrs121912496GRCh37Chr 1, 156104701: 156104701
4LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
5LMNALMNA, 3-BP DEL, 94AAGdeletionPathogenic
6LMNANM_170707.3(LMNA): c.810+1G> Csingle nucleotide variantPathogenicrs267607632GRCh37Chr 1, 156104767: 156104767
7LMNANM_170707.3(LMNA): c.91_93delGAGdeletionLikely pathogenicrs864309525GRCh37Chr 1, 156084800: 156084802
8POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)single nucleotide variantPathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
9LMNANM_170707.3(LMNA): c.1381-2A> Gsingle nucleotide variantLikely pathogenicrs267607600GRCh37Chr 1, 156106710: 156106710
10NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg)single nucleotide variantPathogenicrs28939080GRCh37Chr 5, 14713753: 14713753

Expression for genes affiliated with Muscular Dystrophy, Congenital

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

Pathways for genes affiliated with Muscular Dystrophy, Congenital

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GO Terms for genes affiliated with Muscular Dystrophy, Congenital

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

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:001601010.2DMD, FKRP
2filopodium membraneGO:00315279.9DMD, UTRN
3extracellular vesicleGO:19035619.8COL6A2, COL6A3
4endoplasmic reticulum lumenGO:00057889.4COL6A1, COL6A2, COL6A3
5sarcolemmaGO:00423839.3COL6A2, COL6A3, DAG1, FKRP
6protein complexGO:00432348.8COL6A1, COL6A2, DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1regulation of endoplasmic reticulum unfolded protein responseGO:190010110.6POMT1, POMT2
2protein O-linked mannosylationGO:003526910.2LARGE, POMT1, POMT2
3extracellular matrix disassemblyGO:00226179.5COL6A1, COL6A2, COL6A3
4cell adhesionGO:00071559.2COL6A1, COL6A2, COL6A3, LAMA2
5extracellular matrix organizationGO:00301989.2DAG1, DMD, ITGA7

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

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.4DAG1, DMD, UTRN

Sources for Muscular Dystrophy, Congenital

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet