UCMD
MCID: ULL001
MIFTS: 38

Ullrich Congenital Muscular Dystrophy (UCMD) malady

Neuronal, Muscle categories

Summaries for Ullrich Congenital Muscular Dystrophy

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. Affected individuals show muscle weakness soon after birth. The muscle weakness is typically severe, and most affected people are not able to walk unassisted. Individuals with this condition develop joint stiffness (contractures) in their knees and elbows that can restrict movement. They also have an unusually large range of joint movement (hypermobility) in their wrists and ankles. The respiratory muscles may also be weakened, requiring people to use a machine to help them breathe at night (mechanical ventilation).

MalaCards: Ullrich Congenital Muscular Dystrophy, also known as scleroatonic muscular dystrophy, is related to bethlem myopathy and myopathy congenital. An important gene associated with Ullrich Congenital Muscular Dystrophy is COL6A3 (collagen, type VI, alpha 3), and among its related pathways are Protein digestion and absorption and Axon guidance. Affiliated tissues include skin, heart and skeletal muscle.

Wikipedia:64 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. more...

Description from OMIM:47 254090

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy

Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
scleroatonic muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ullrich congenital muscular dystrophy 8 9 20 22 21 47 10 45
scleroatonic muscular dystrophy 21 49 61
ullrich disease 8 21 49
ullrich scleroatonic muscular dystrophy 8 21
ucmd 21 49
congenital muscular dystrophy, ullrich type 49


External Ids:

Disease Ontology8 DOID:0050558
OMIM47 254090
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet58 240062007

Related Diseases for Ullrich Congenital Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ullrich Congenital Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bethlem myopathy31.0COL6A2, COL6A3, COL6A1
2myopathy congenital10.7
3conn's syndrome10.3
4ehlers–danlos syndrome10.3
5scleroatonic muscular dystrophy10.3
6ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.3
7ehlers-danlos syndrome10.0PLOD3
8muscular dystrophy10.0COL6A1, COL6A3
9collagen type vi-related disorders10.0COL6A2, COL6A3, COL6A1
10myopathy10.0COL6A2, COL6A3, COL6A1

Graphical network of diseases related to Ullrich Congenital Muscular Dystrophy:



Diseases related to ullrich congenital muscular dystrophy

Clinical Features for Ullrich Congenital Muscular Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

254090

Clinical synopsis from OMIM:

254090

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Ullrich Congenital Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Ullrich Congenital Muscular Dystrophy

Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy

Search CenterWatch for Ullrich Congenital Muscular Dystrophy

Genetic Tests for Ullrich Congenital Muscular Dystrophy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Ullrich Congenital Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy20 22

Anatomical Context for Ullrich Congenital Muscular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Ullrich Congenital Muscular Dystrophy:

33
Skin, Heart, Skeletal muscle

Animal Models for Ullrich Congenital Muscular Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ullrich Congenital Muscular Dystrophy

Sources:
51PubMed
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Articles related to Ullrich Congenital Muscular Dystrophy:

(show all 36)
idTitleAuthorsYear
1
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. (23572247)
2013
2
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. (23668812)
2013
3
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. (23940025)
2013
4
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report. (23738969)
2013
5
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (24163611)
2013
6
Moderately progressive Ullrich congenital muscular dystrophy. (22016142)
2012
7
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. (21496625)
2011
8
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. (21280092)
2011
9
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. (22028947)
2011
10
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (20106987)
2010
11
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. (20729548)
2010
12
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (19015158)
2009
13
Ullrich congenital muscular dystrophy: report of nine cases from India. (19305075)
2009
14
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. (19309692)
2009
15
Natural history of Ullrich congenital muscular dystrophy. (19564581)
2009
16
Perioperative care of a child with Ullrich congenital muscular dystrophy. (19583090)
2009
17
Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. (18219255)
2008
18
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. (18435905)
2008
19
Skin changes in Ullrich congenital muscular dystrophy. (18948005)
2008
20
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. (17215366)
2007
21
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. (17537636)
2007
22
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. (16935502)
2006
23
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (15689448)
2005
24
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. (16258657)
2005
25
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (15563506)
2005
26
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. (15792870)
2005
27
Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. (16447767)
2005
28
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. (15690374)
2005
29
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. (16075202)
2005
30
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. (15127309)
2004
31
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. (15229843)
2004
32
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. (12840783)
2003
33
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. (12921792)
2003
34
Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease]. (12661101)
2003
35
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. (12218063)
2002
36
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. (11992252)
2002

Genetic Variations for Ullrich Congenital Muscular Dystrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ullrich Congenital Muscular Dystrophy:

63 (show all 12)
id Symbol AA change Variation SNP ID
1COL6A1p.Gly281ArgVAR_058217
2COL6A1p.Gly284ArgVAR_058218
3COL6A1p.Gly290ArgVAR_058219
4COL6A2p.Gly283ArgVAR_058226
5COL6A2p.Arg498HisVAR_058228
6COL6A2p.Gly531ArgVAR_058230
7COL6A2p.Arg784HisVAR_058234rs75120695
8COL6A2p.Leu837ProVAR_058236
9COL6A2p.Arg876SerVAR_058238
10COL6A3p.Arg1064GlnVAR_058249rs112638391
11COL6A3p.Arg1395GlnVAR_058251rs80272723
12COL6A3p.Asp1674AsnVAR_058255

Expression for genes affiliated with Ullrich Congenital Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ullrich Congenital Muscular Dystrophy

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

Pathways for genes affiliated with Ullrich Congenital Muscular Dystrophy

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN
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Compounds for genes affiliated with Ullrich Congenital Muscular Dystrophy

GO Terms for genes affiliated with Ullrich Congenital Muscular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Ullrich Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.9COL6A3, COL6A1
2collagenGO:0055819.7COL6A5, COL6A2
3sarcolemmaGO:0423839.5COL6A1, COL6A3, COL6A2
4endoplasmic reticulum lumenGO:0057889.3COL6A2, COL6A3, COL6A1, FKBP14
5extracellular matrixGO:0310128.8VWF, COL6A1, COL6A3, COL6A5, COL6A2
6extracellular regionGO:0055768.3COL6A2, COL6A5, COL6A3, COL6A1, VWF

Biological processes related to Ullrich Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:0702089.9COL6A1, COL6A2
2mRNA export from nucleusGO:0064069.5SMG1, UPF1
3axon guidanceGO:0074119.3COL6A1, COL6A3, COL6A2
4collagen catabolic processGO:0305749.3COL6A1, COL6A3, COL6A5, COL6A2
5extracellular matrix disassemblyGO:0226179.3COL6A2, COL6A5, COL6A3, COL6A1
6extracellular matrix organizationGO:0301988.9COL6A2, COL6A5, COL6A3, COL6A1, PLOD3
7cell adhesionGO:0071558.8COL6A5, COL6A3, COL6A1, VWF

Molecular functions related to Ullrich Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptidyl-prolyl cis-trans isomerase activityGO:0037559.3FKBP14, PPIF

Products for genes affiliated with Ullrich Congenital Muscular Dystrophy

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Sources for Ullrich Congenital Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet