MCID: MSC124
MIFTS: 57

Muscular Dystrophy, Congenital malady

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

Aliases & Classifications for Muscular Dystrophy, Congenital

About this section

Aliases & Descriptions for Muscular Dystrophy, Congenital:

Name: Muscular Dystrophy, Congenital 50 12
Congenital Muscular Dystrophy 11 22 46 23 13 25 66
Muscular Dystrophy Congenital Lmna-Related 68 25
Cmd 46 23
Congenital Muscular Dystrophy Due to Lmna Mutation 52
Craniometaphyseal Dysplasia, Autosomal Dominant 66
Muscular Dystrophy, Congenital, Lmna-Related 50
 
Congenital Muscular Dystrophy, Lmna-Related 23
Lmna-Related Congenital Muscular Dystrophy 52
Coronary Microvascular Disease 66
Congenital Md 46
L-Cmd 52
Mdcl 68
Mdc 46

Characteristics:

Orphanet epidemiological data:

52
congenital muscular dystrophy due to lmna mutation:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
muscular dystrophy, congenital:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive, variable expressivity


Classifications:



External Ids:

OMIM50 613205
Disease Ontology11 DOID:0050557
ICD9CM30 359.0
Orphanet52 ORPHA157973
ICD10 via Orphanet29 G71.2
MedGen35 C2750785
MeSH37 D009136
UMLS66 C2937300

Summaries for Muscular Dystrophy, Congenital

About this section
NIH Rare Diseases:46 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-dystroglycanopathy , type b, 1 and muscular dystrophy, rigid spine, 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, testes and lung, and related mouse phenotypes are vision/eye and cellular.

Disease Ontology:11 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:68 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:69 Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of... more...

Description from OMIM:50 613205

GeneReviews summary for NBK1291

Related Diseases for Muscular Dystrophy, Congenital

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Diseases in the Muscular Dystrophy family:

muscular dystrophy, congenital Muscular Dystrophy, Congenital, 1b
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 131.9FKRP, FKTN, POMT1
2muscular dystrophy, rigid spine, 131.7DMD, MDCMP, SEPN1
3ullrich congenital muscular dystrophy 130.9COL6A1, COL6A2, COL6A3, LAMA2, LMNA, SEPN1
4muscular dystrophy-dystroglycanopathy , type b, 429.2DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
5muscular dystrophy, congenital, due to itga7 deficiency12.2
6muscular dystrophy, congenital, megaconial type12.1
7muscular dystrophy, congenital merosin-deficient12.1
8muscular dystrophy, congenital, merosin-positive12.0
9muscular dystrophy, congenital, 1b12.0
10muscular dystrophy, congenital, producing arthrogryposis12.0
11muscular dystrophy, congenital, with infantile cataract and hypogonadism12.0
12craniometaphyseal dysplasia11.5
13muscular dystrophy-dystroglycanopathy , type a, 411.2
14fukuyama type muscular dystrophy11.2
15congenital muscular dystrophy type 1a11.2
16muscular dystrophy-dystroglycanopathy , type a, 111.1
17congenital muscular dystrophy with cerebellar involvement11.0
18congenital muscular dystrophy with intellectual disability11.0
19congenital muscular dystrophy without intellectual disability11.0
20muscular dystrophy-dystroglycanopathy , type b, 310.9
21muscular dystrophy-dystroglycanopathy , type b, 210.9
22muscular dystrophy-dystroglycanopathy , type b, 510.9
23lama2-related muscular dystrophy10.9
24fkrp-related muscle diseases10.9
25sepn1-related multiminicore disease10.9
26congenital disorder of glycosylation, type ie10.8
27muscular dystrophy10.7
28cataract 9, multiple types10.4COL6A1, COL6A2
29intellectual disability-facial dysmorphism-hand anomalies syndrome10.4FKRP, FKTN, POMT1
30gastric antral vascular ectasia10.2FKTN, POMGNT1, POMT1
31d ercole syndrome10.2DMD, UTRN
32dystonia 2710.1COL6A1, COL6A2, COL6A3
33congenital hepatic fibrosis10.1COL6A1, COL6A2, COL6A3
34hyperphosphatemia10.1DAG1, FKRP, FKTN
35myelodysplastic myeloproliferative cancer10.0COL6A1, COL6A2, COL6A3
36asphyxiating thoracic dystrophy10.0FKRP, POMT2
37elane-related neutropenia10.0DMD, UTRN
38odontoclasia10.0CHKB, LMNA, SEPN1
39schindler disease10.0DAG1, DMD, UTRN
40finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome10.0FKRP, LARGE1, POMT1, POMT2
41duchenne muscular dystrophy10.0
42myopathy, lactic acidosis, and sideroblastic anemia9.9DMD, SEPN1
43microcephaly and chorioretinopathy 19.9DMD, ITGA7, LMNA, SEPN1
44intellectual disability-seizures-macrocephaly-obesity syndrome9.8FKRP, POMGNT1, POMT1, POMT2
45congenital myopathy9.8
46myopathy9.8
47myotonic dystrophy9.8
48proliferating trichilemmal cyst9.8DMD, FKRP, POMT2
49cubitus valgus with mental retardation and unusual facies9.7DMD, LAMA2
50extraosseous ewing's sarcoma9.7COL6A1, COL6A2, COL6A3, SEPN1

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

Symptoms:

 52 (show all 22)
  • narrow chest
  • muscular hypotonia
  • global developmental delay
  • gait disturbance
  • flexion contracture
  • limitation of joint mobility
  • death in infancy
  • decreased fetal movement
  • congestive heart failure
  • talipes
  • respiratory insufficiency
  • poor head control
  • myopathy
  • skeletal muscle atrophy
  • spinal rigidity
  • hyperlordosis
  • axial muscle weakness
  • emg abnormality
  • cachexia
  • joint hyperflexibility
  • arrhythmia
  • feeding difficulties

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LamotriginePhase 318284057-84-13878
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
2calcium channel blockersPhase 31889
3
Vitamin CNutraceuticalPhase 2, Phase 348850-81-75785, 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
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
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
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
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
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
ácido ascórbico
4
OxandrolonePhase 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
5
Menthol21842216-51-516666
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
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
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
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
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
6
protease inhibitors5157
Synonyms:
 
protease inhibitors

Interventional clinical trials:

(show all 40)
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
5Study of Tideglusib in Adolescent and Adult Patients With Myotonic DystrophyRecruitingNCT02858908Phase 2
6Pediatric Radio Frequency Coils GenericRecruitingNCT01633866Phase 1, Phase 2
7Congenital 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
8Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 1
9A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular DystrophyCompletedNCT01836627
10MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
11Aerobic Training in Patients With Congenital MyopathiesCompletedNCT02020187
12A Randomized Exercise Trial for Wheelchair UsersCompletedNCT00866112
13Study of Electrical Impedance Myography (EIM) in ALSCompletedNCT02011204
14Development and Validation of a Disability Severity Index for CMTCompletedNCT01455623
15Survey of Current Management of Orthopaedic Complications in CMT PatientsCompletedNCT02001038
16Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
17Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular DystrophyRecruitingNCT02153970
18Flu Vaccine Study in Neuromuscular Patients 2011RecruitingNCT01422200
19Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
20Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
21Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
22European Home Mechanical Ventilation RegistryRecruitingNCT02315339
23Muscle Oxygenation in Effort in Neuromuscular DiseasesRecruitingNCT02789059
24Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
25Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsRecruitingNCT02428673
26Myotonic Dystrophy Family RegistryRecruitingNCT02398786
27Genetics of Pediatric-Onset Motor Neuron and Neuromuscular DiseasesRecruitingNCT02532244
28A Peer E-mentoring Intervention to Improve EmploymentRecruitingNCT02522507
29Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
30Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
31Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)RecruitingNCT02194010
32Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMTRecruitingNCT01203085
33Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
34Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
35Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
36Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
37Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
38WREX Outcome StudyEnrolling by invitationNCT02218593
39LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028
40Real-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 Dystrophy, Lmna-Related25 23
2 Congenital Muscular Dystrophy25 23 SEPN1

Anatomical Context for Muscular Dystrophy, Congenital

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MalaCards organs/tissues related to Muscular Dystrophy, Congenital:

34
Heart, Testes, Lung, Skeletal muscle, Brain

Animal Models for Muscular Dystrophy, Congenital or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.9COL6A3, DAG1, DMD, FKRP, LARGE1, LMNA
2MP:00053847.4COL6A3, DAG1, DMD, FKRP, FKTN, ITGA7
3MP:00053906.9CHKB, COL6A3, DMD, FKRP, ITGA7, LAMA2
4MP:00107686.5DAG1, DMD, FKRP, FKTN, ITGA7, LAMA2
5MP:00053866.4CHKB, DAG1, DMD, FKRP, FKTN, ITGA7
6MP:00053696.1CHKB, COL6A1, COL6A3, DAG1, DMD, FKRP
7MP:00036316.0CHKB, DAG1, DMD, FKRP, FKTN, ITGA7
8MP:00053765.7CHKB, DAG1, DMD, FKRP, FKTN, ITGA7
9MP:00053785.7COL6A2, COL6A3, DAG1, DMD, FKRP, FKTN

Publications for Muscular Dystrophy, Congenital

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Articles related to Muscular Dystrophy, Congenital:

idTitleAuthorsYear
1
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. (14659414)
2004

Variations for Muscular Dystrophy, Congenital

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

68
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 (show all 11)
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 variantPathogenicrs267607632GRCh38Chr 1, 156134976: 156134976
7LMNANM_170707.3(LMNA): c.91_93delGAG (p.Glu31del)deletionLikely pathogenicrs864309525GRCh37Chr 1, 156084800: 156084802
8POMT1NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs)duplicationPathogenicrs398124245GRCh37Chr 9, 134398416: 134398416
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
11POMT1NM_007171.3(POMT1): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs398124247GRCh37Chr 9, 134385674: 134385674

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
1dolichyl-phosphate-mannose-protein mannosyltransferase complexGO:003150210.6POMT1, POMT2
2contractile ringGO:007093810.4DAG1, UTRN
3collagen type VI trimerGO:000558910.2COL6A1, COL6A3
4filopodium membraneGO:003152710.0DMD, UTRN
5costamereGO:00430349.9DAG1, DMD
6filopodiumGO:00301759.6DAG1, DMD, UTRN
7dystrophin-associated glycoprotein complexGO:00160109.5DAG1, DMD, FKRP, UTRN
8extracellular matrixGO:00310129.2COL6A1, COL6A2, COL6A3, LAMA2, LMNA
9sarcolemmaGO:00423838.4COL6A1, COL6A2, COL6A3, DAG1, DMD, FKRP
10Golgi membraneGO:00001398.2FKRP, FKTN, LARGE1, MGAT4C, POMGNT1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1chain elongation of O-linked mannose residueGO:004484510.6POMT1, POMT2
2cell wall mannoprotein biosynthetic processGO:000003210.6POMT1, POMT2
3regulation of endoplasmic reticulum unfolded protein responseGO:190010110.6POMT1, POMT2
4protein heterotrimerizationGO:007020810.4COL6A1, COL6A2
5myelination in peripheral nervous systemGO:002201110.3DAG1, LAMA2
6skeletal muscle tissue regenerationGO:004340310.0LARGE1, SEPN1
7glycoprotein biosynthetic processGO:00091019.9FKRP, LARGE1
8regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.9DMD, SEPN1
9collagen catabolic processGO:00305749.9COL6A1, COL6A2, COL6A3
10muscle cell cellular homeostasisGO:00467169.3DMD, LARGE1
11muscle organ developmentGO:00075178.9COL6A3, DMD, FKTN, ITGA7, LAMA2, UTRN
12extracellular matrix organizationGO:00301988.8COL6A1, COL6A2, COL6A3, DAG1, ITGA7, LAMA2
13protein O-linked glycosylationGO:00064938.4DAG1, LARGE1, POMGNT1, POMGNT2, POMT1, POMT2
14protein O-linked mannosylationGO:00352698.1FKRP, FKTN, LARGE1, POMGNT2, POMT1, POMT2

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

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.0POMT1, POMT2
2dystroglycan bindingGO:00021629.5DAG1, DMD
3vinculin bindingGO:00171669.4DAG1, DMD, UTRN
4acetylglucosaminyltransferase activityGO:00083759.3LARGE1, POMGNT2

Sources for Muscular Dystrophy, Congenital

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet