UCMD
MCID: ULL001
MIFTS: 49

Ullrich Congenital Muscular Dystrophy (UCMD) malady

Neuronal diseases, Muscle diseases, Genetic diseases categories

Summaries for Ullrich Congenital Muscular Dystrophy

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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 muscular dystrophy and bethlem myopathy. 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 skeletal muscle, skin and heart.

NIH Rare Diseases:42 Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. this condition is caused by mutations in the col6a1, col6a2, and col6a3 genes. ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. in rare cases, this condition may be inherited in an autosomal dominant pattern. last updated: 3/4/2014

Wikipedia:63 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. more...

Description from OMIM:46 254090

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 46 10 44
scleroatonic muscular dystrophy 42 21 48 60
ullrich disease 8 42 21 48
ullrich scleroatonic muscular dystrophy 8 42 21
ucmd 42 21 48
congenital muscular dystrophy, ullrich type 48
late onset scleroatonic familial myopathy 42


External Ids:

Disease Ontology8 DOID:0050558
OMIM46 254090
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet57 240062007

Related Diseases for Ullrich Congenital Muscular Dystrophy

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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
1muscular dystrophy31.5COL6A1, COL6A3
2bethlem myopathy31.0COL6A3, COL6A2, COL6A1
3myopathy31.0COL6A1, COL6A2, COL6A3
4ehlers-danlos syndrome30.4PLOD3
5congenital muscular dystrophy11.1
6ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.3
7collagen disease10.3
8collagen type vi-related disorders10.0COL6A1, COL6A3, COL6A2

Graphical network of diseases related to Ullrich Congenital Muscular Dystrophy:



Diseases related to ullrich congenital muscular dystrophy

Clinical Features for Ullrich Congenital Muscular Dystrophy

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46OMIM
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Clinical features from OMIM:

254090

Clinical synopsis from OMIM:

254090

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy

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Genetic Tests for Ullrich Congenital Muscular Dystrophy

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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

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32MalaCards
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MalaCards organs/tissues related to Ullrich Congenital Muscular Dystrophy:

32
Skeletal muscle, Skin, Heart

Animal Models for Ullrich Congenital Muscular Dystrophy or affiliated genes

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Publications for Ullrich Congenital Muscular Dystrophy

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50PubMed
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Articles related to Ullrich Congenital Muscular Dystrophy:

(show all 35)
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
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. (12218063)
2002
35
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. (11992252)
2002

Genetic Variations for Ullrich Congenital Muscular Dystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ullrich Congenital Muscular Dystrophy:

62 (show all 12)
id Symbol AA change Variation ID 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

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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

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29KEGG, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN
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Compounds for genes affiliated with Ullrich Congenital Muscular Dystrophy

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GO Terms for genes affiliated with Ullrich Congenital Muscular Dystrophy

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet