UCMD
MCID: ULL001
MIFTS: 48

Ullrich Congenital Muscular Dystrophy (UCMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Ullrich Congenital Muscular Dystrophy

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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 based summary: Ullrich Congenital Muscular Dystrophy, also known as ullrich scleroatonic muscular dystrophy, is related to muscular dystrophy and bethlem myopathy, and has symptoms including An important gene associated with Ullrich Congenital Muscular Dystrophy is COL6A3 (collagen, type VI, alpha 3), and among its related pathways are mRNA surveillance pathway and Phospholipase-C Pathway. Affiliated tissues include skeletal muscle, skin and heart, and related mouse phenotype cellular.

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:65 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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Ullrich Congenital Muscular Dystrophy, Aliases & Descriptions:

Name: Ullrich Congenital Muscular Dystrophy 8 9 42 20 22 21 46 10 44 62
Ullrich Scleroatonic Muscular Dystrophy 8 42 21 62
Scleroatonic Muscular Dystrophy 42 21 48 62
Ullrich Disease 8 42 21 48
 
Ucmd 42 21 48
Late Onset Scleroatonic Familial Myopathy 42 62
Congenital Muscular Dystrophy, Ullrich Type 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare 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


External Ids:

Disease Ontology8 DOID:0050558
OMIM46 254090
ICD10 via Orphanet26 G71.2

Related Diseases for Ullrich Congenital Muscular Dystrophy

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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 dystrophy32.0MDCMP, COL6A2
2bethlem myopathy31.3COL6A1, COL6A3, COL6A2
3myopathy31.2COL6A2, COL6A3, COL6A1
4congenital muscular dystrophy11.1
5ehlers-danlos syndrome10.4
6ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.4
7collagen type vi-related disorders10.1COL6A2, COL6A3, COL6A1
8down syndrome10.1COL6A1, COL6A3, COL6A2

Graphical network of diseases related to Ullrich Congenital Muscular Dystrophy:



Diseases related to ullrich congenital muscular dystrophy

Symptoms for Ullrich Congenital Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

254090

Clinical features from OMIM:

254090

HPO human phenotypes related to Ullrich Congenital Muscular Dystrophy:

(show all 36)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 high palate HP:0000218
4 round face HP:0000311
5 protruding ear HP:0000411
6 torticollis HP:0000473
7 hyperhidrosis HP:0000975
8 motor delay HP:0001270
9 neonatal hypotonia HP:0001319
10 flexion contracture HP:0001371
11 joint laxity HP:0001388
12 failure to thrive HP:0001508
13 slender build HP:0001533
14 talipes equinovarus HP:0001762
15 scoliosis HP:0002650
16 respiratory insufficiency due to muscle weakness HP:0002747
17 recurrent lower respiratory tract infections HP:0002783
18 kyphosis HP:0002808
19 hip dislocation HP:0002827
20 nocturnal hypoventilation HP:0002877
21 spinal rigidity HP:0003306
22 increased variability in muscle fiber diameter HP:0003557
23 infantile onset HP:0003593
24 progressive disorder HP:0003676
25 generalized amyotrophy HP:0003700
26 proximal muscle weakness HP:0003701
27 muscle fiber necrosis HP:0003713
28 type 1 muscle fiber predominance HP:0003803
29 variable expressivity HP:0003828
30 hyperextensibility at wrists HP:0005072
31 increased laxity of fingers HP:0006149
32 increased laxity of ankles HP:0006460
33 follicular hyperkeratosis HP:0007502
34 mildly elevated creatine phosphokinase HP:0008180
35 feeding difficulties in infancy HP:0008872
36 facial palsy HP:0010628

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Ullrich Congenital Muscular Dystrophy

Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy

Genetic Tests for Ullrich Congenital Muscular Dystrophy

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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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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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MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.5COL6A1, PLOD3, UPF1, SMG1, VWF, PPIF

Publications for Ullrich Congenital Muscular Dystrophy

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Articles related to Ullrich Congenital Muscular Dystrophy:

(show all 38)
idTitleAuthorsYear
1
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (24938411)
2014
2
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. (24801232)
2014
3
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. (24959844)
2014
4
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. (24855628)
2014
5
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. (23572247)
2013
6
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. (24665301)
2013
7
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. (23668812)
2013
8
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. (23940025)
2013
9
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
10
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (24163611)
2013
11
Moderately progressive Ullrich congenital muscular dystrophy. (22016142)
2012
12
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. (21496625)
2011
13
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. (21280092)
2011
14
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. (22028947)
2011
15
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (20106987)
2010
16
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
17
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (19015158)
2009
18
Ullrich congenital muscular dystrophy: report of nine cases from India. (19305075)
2009
19
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. (19309692)
2009
20
Natural history of Ullrich congenital muscular dystrophy. (19564581)
2009
21
Perioperative care of a child with Ullrich congenital muscular dystrophy. (19583090)
2009
22
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. (18435905)
2008
23
Skin changes in Ullrich congenital muscular dystrophy. (18948005)
2008
24
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. (17215366)
2007
25
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. (17537636)
2007
26
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
27
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (15689448)
2005
28
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. (16258657)
2005
29
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (15563506)
2005
30
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. (15792870)
2005
31
Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. (16447767)
2005
32
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. (15690374)
2005
33
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
34
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. (15127309)
2004
35
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. (15229843)
2004
36
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. (12840783)
2003
37
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. (12218063)
2002
38
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. (11992252)
2002

Variations for Ullrich Congenital Muscular Dystrophy

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

64 (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

Clinvar genetic disease variations for Ullrich Congenital Muscular Dystrophy:

6
id Gene Name Type Significance SNP ID Assembly Location
1COL6A3NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys)single nucleotide variantLikely pathogenicrs146092501GRCh37Chr 2, 238280504: 238280504

Expression for genes affiliated with Ullrich Congenital Muscular Dystrophy

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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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Pathways related to Ullrich Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5UPF1, SMG1
2
Show member pathways
9.3COL6A2, COL12A1, COL6A3, COL6A1
3
Show member pathways
9.3COL6A1, COL6A3, COL12A1, COL6A2
4
Show member pathways
9.3COL6A2, COL12A1, COL6A3, COL6A1
59.3COL6A2, COL12A1, COL6A3, COL6A1
6
Show member pathways
9.2COL6A1, COL6A3, COL6A5, COL6A2
7
Show member pathways
9.2COL6A2, COL6A5, COL6A3, COL6A1
8
Show member pathways
9.2COL6A1, COL6A3, COL6A5, COL6A2
9
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1VWF, COL6A1, COL6A3, COL6A2
109.1VWF, COL6A1, COL6A3, COL6A2
11
Show member pathways
8.6VWF, COL6A1, COL6A3, COL6A5, COL6A2
12
Show member pathways
8.5COL6A2, COL6A5, COL12A1, COL6A3, COL6A1, PLOD3
13
Show member pathways
8.5PLOD3, COL6A1, COL6A3, COL12A1, COL6A5, COL6A2

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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Cellular components related to Ullrich Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00558910.0COL6A3, COL6A1
2collagenGO:0055819.7COL6A2, COL6A5
3sarcolemmaGO:0423839.6COL6A1, COL6A3, COL6A2
4endoplasmic reticulum lumenGO:0057889.1FKBP14, COL6A1, COL6A3, COL12A1, COL6A2
5extracellular matrixGO:0310128.5COL6A2, COL6A5, COL12A1, COL6A3, COL6A1, VWF
6extracellular regionGO:0055768.2VWF, COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
7extracellular vesicular exosomeGO:0700628.1VWF, PLOD3, COL6A1, COL6A3, COL12A1, COL6A2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:0702089.9COL6A1, COL6A2
2collagen fibril organizationGO:0301999.7COL12A1, PLOD3
3mRNA export from nucleusGO:0064069.5UPF1, SMG1
4axon guidanceGO:0074119.3COL6A2, COL6A3, COL6A1
5collagen catabolic processGO:0305749.0COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
6extracellular matrix disassemblyGO:0226179.0COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
7cell adhesionGO:0071558.4COL6A2, COL6A5, COL12A1, COL6A3, COL6A1, VWF
8extracellular matrix organizationGO:0301988.1COL6A2, COL6A5, COL12A1, COL6A3, COL6A1, PLOD3

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet