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UCMD1
MCID: ULL002
MIFTS: 56

Ullrich Congenital Muscular Dystrophy 1 (UCMD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 1

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MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 56 73 29 6
Ullrich Congenital Muscular Dystrophy 56 12 52 73 29 13 54 6 15
Ullrich Disease 56 12 52 58 73 36
Ullrich Scleroatonic Muscular Dystrophy 56 12 52 73
Scleroatonic Muscular Dystrophy 52 58 73 71
Ucmd 56 52 58 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 56 73
Lgmdr22 56 73
Ucmd1 56 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22; Lgmdr22 56
Dystrophy, Muscular, Congenital, Ullrich, Type 1 39
Ullrich Congenital Muscular Dystrophy; Ucmd 56
Congenital Muscular Dystrophy, Ullrich Type 58
Late Onset Scleroatonic Familial Myopathy 52
Dystrophy, Muscular, Congenital, Ullrich 39
Muscular Dystrophy, Scleroatonic 56

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
progressive disorder
bethlem myopathy is an allelic disorder with a milder phenotype and autosomal dominant inheritance
a subset of patients have heterozygous mutations consistent with a dominant-negative effect


HPO:

31
ullrich congenital muscular dystrophy 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Ullrich Congenital Muscular Dystrophy 1

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NIH Rare Diseases : 52 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.

MalaCards based summary : Ullrich Congenital Muscular Dystrophy 1, also known as ullrich congenital muscular dystrophy, is related to collagen vi-related myopathy and collagen type vi-related disorders, and has symptoms including torticollis An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include skeletal muscle, skin and heart, and related phenotypes are kyphosis and generalized muscle weakness

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has material basis in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.

OMIM : 56 Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). (254090)

KEGG : 36 Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.

UniProtKB/Swiss-Prot : 73 Ullrich congenital muscular dystrophy 1: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.

Wikipedia : 74 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with... more...

Sources

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

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Diseases in the Ullrich Congenital Muscular Dystrophy 1 family:

Ullrich Congenital Muscular Dystrophy 2

Diseases related to Ullrich Congenital Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 34.0 COL6A3 COL6A2 COL6A1
2 collagen type vi-related disorders 31.9 COL6A3 COL6A2 COL6A1
3 myopathy, proximal, and ophthalmoplegia 31.3 MDCMP COL6A2 COL6A1
4 myopathy 31.3 SELENON LMNA LAMA2 FKBP14 DYSF COL6A3
5 limb-girdle muscular dystrophy 30.8 LMNA LAMA2 DYSF DMD
6 muscular dystrophy, congenital, lmna-related 30.8 SELENON LMNA LAMA2 FKBP14 DYSF DMD
7 bethlem myopathy 1 30.5 SELENON PPIF LMNA LAMA2 FKBP14 DYSF
8 muscular dystrophy 30.4 SELENON MDCMP LMNA LAMA2 DYSF DMD
9 rigid spine muscular dystrophy 1 29.9 SELENON MDCMP LMNA LAMA2 FKBP14 DYSF
10 ullrich congenital muscular dystrophy 2 12.8
11 collagen vi related muscular dystrophy 11.5
12 rigid spine muscular dystrophy 10.6 SELENON LMNA
13 localized lipodystrophy 10.6 DYSF DMD
14 isolated elevated serum creatine phosphokinase levels 10.5 LAMA2 DMD
15 autosomal recessive limb-girdle muscular dystrophy type 2d 10.5 LAMA2 DYSF DMD
16 autosomal recessive limb-girdle muscular dystrophy type 2c 10.5 LAMA2 DYSF DMD
17 autosomal recessive limb-girdle muscular dystrophy type 2b 10.5 LAMA2 DYSF DMD
18 muscular dystrophy, limb-girdle, autosomal recessive 7 10.5 DYSF DMD
19 creatine phosphokinase, elevated serum 10.5 LAMA2 DMD
20 autosomal recessive limb-girdle muscular dystrophy type 2f 10.5 DYSF DMD
21 muscular dystrophy-dystroglycanopathy , type a, 4 10.5 LAMA2 DYSF DMD
22 muscular dystrophy, limb-girdle, autosomal dominant 1 10.5 LMNA DYSF CRYAA
23 autosomal recessive limb-girdle muscular dystrophy 10.5 LAMA2 DYSF DMD COL6A1
24 emery-dreifuss muscular dystrophy 10.5 LMNA LAMA2 DMD
25 muscular dystrophy, becker type 10.5 LAMA2 DYSF DMD
26 scoliosis 10.5
27 myopathy, congenital 10.4 SELENON DYSF DMD
28 muscular dystrophy, limb-girdle, autosomal recessive 6 10.4 DYSF DMD
29 intrinsic cardiomyopathy 10.4 LMNA DMD CRYAA
30 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.4 LMNA DYSF DMD
31 x-linked recessive disease 10.4 LAMA2 DYSF DMD CRYAA
32 centronuclear myopathy 10.4 SELENON DYSF DMD
33 helix syndrome 10.4
34 autosomal recessive limb-girdle muscular dystrophy type 2a 10.4 LMNA LAMA2 DYSF DMD
35 muscular dystrophy, limb-girdle, autosomal dominant 2 10.4 LMNA DYSF
36 inclusion body myositis 10.4 LMNA LAMA2 DYSF
37 malignant hyperthermia 10.4 SELENON LAMA2 DYSF DMD
38 respiratory failure 10.4
39 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.4 LMNA DMD
40 facioscapulohumeral muscular dystrophy 1 10.4 LMNA LAMA2 DYSF DMD
41 x-linked monogenic disease 10.4 DYSF DMD CRYAA
42 cardiomyopathy, dilated, 3b 10.4 DYSF DMD
43 muscular dystrophy-dystroglycanopathy , type a, 1 10.4 LAMA2 DMD
44 myofibrillar myopathy 10.3 SELENON LMNA DYSF DMD CRYAA
45 myopathy of extraocular muscle 10.3 LAMA2 DMD
46 neuromuscular disease 10.3 LMNA LAMA2 DYSF DMD CRYAA
47 muscular dystrophy, duchenne type 10.3
48 muscular dystrophy, congenital merosin-deficient, 1a 10.3 SELENON LMNA LAMA2 DYSF DMD COL6A1
49 congenital fiber-type disproportion 10.3 SELENON LMNA LAMA2 DYSF DMD COL6A3
50 metaphyseal chondrodysplasia, schmid type 10.3 SMG8 CRYAA

Graphical network of the top 20 diseases related to Ullrich Congenital Muscular Dystrophy 1:



Diseases related to Ullrich Congenital Muscular Dystrophy 1
Sources

Symptoms & Phenotypes for Ullrich Congenital Muscular Dystrophy 1

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Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
2 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
3 spinal rigidity 58 31 very rare (1%) Very frequent (99-80%) HP:0003306
4 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
5 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
6 increased variability in muscle fiber diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0003557
7 increased endomysial connective tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0100297
8 hyperextensibility at wrists 58 31 hallmark (90%) Very frequent (99-80%) HP:0005072
9 increased laxity of fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0006149
10 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
11 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
12 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
16 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
17 long toe 58 31 frequent (33%) Frequent (79-30%) HP:0010511
18 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
19 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
20 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
21 slender finger 58 31 frequent (33%) Frequent (79-30%) HP:0001238
22 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
23 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
24 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
25 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
26 pes valgus 58 31 frequent (33%) Frequent (79-30%) HP:0008081
27 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
28 diaphragmatic weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009113
29 reduced muscle collagen vi 31 very rare (1%) HP:0030095
30 flexion contracture 58 31 Very frequent (99-80%) HP:0001371
31 failure to thrive 31 HP:0001508
32 hyperhidrosis 31 HP:0000975
33 facial palsy 31 HP:0010628
34 high palate 31 HP:0000218
35 muscle weakness 58 Frequent (79-30%)
36 neonatal hypotonia 31 HP:0001319
37 feeding difficulties in infancy 31 HP:0008872
38 respiratory insufficiency due to muscle weakness 31 HP:0002747
39 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
40 protruding ear 31 HP:0000411
41 motor delay 31 HP:0001270
42 talipes equinovarus 31 HP:0001762
43 type 1 muscle fiber predominance 31 HP:0003803
44 slender build 31 HP:0001533
45 round face 31 HP:0000311
46 proximal muscle weakness 31 HP:0003701
47 abnormality of muscle fibers 58 Very frequent (99-80%)
48 congenital muscular dystrophy 31 HP:0003741
49 recurrent lower respiratory tract infections 31 HP:0002783
50 nocturnal hypoventilation 31 HP:0002877

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
slender build

Skin Nails Hair Skin:
hyperhidrosis
follicular hyperkeratosis

Skeletal Pelvis:
hip dislocation

Head And Neck Neck:
torticollis
neck weakness

Skeletal Limbs:
increased laxity of ankles
long, thin limbs
increased laxity of wrists

Muscle Soft Tissue:
muscle fiber necrosis
delayed motor milestones
hypotonia, neonatal
muscle weakness, proximal greater than distal
generalized muscle atrophy
more
Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
prominent ears

Growth Weight:
low weight due to poor feeding

Skeletal Spine:
scoliosis
kyphosis
spinal rigidity

Skeletal Feet:
talipes equinovarus
calcaneal protrusion

Head And Neck Face:
round face
facial weakness, mild

Respiratory:
nocturnal hypoventilation
respiratory insufficiency due to muscle weakness often requiring ventilatory assistance
recurrent chest infections

Skeletal Hands:
increased laxity of fingers

Skeletal:
distal joint laxity
proximal joint contractures

Neurologic Central Nervous System:
normal intelligence

Laboratory Abnormalities:
normal to mildly increased serum creatine kinase

Neurologic Peripheral Nervous System:
decreased or absent reflexes due to muscle weakness

Clinical features from OMIM:

254090

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

GenomeRNAi Phenotypes related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 COL6A1 COL6A3 CRYAA DMD DYSF LAMA2

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 BGN COL12A1 COL6A1 COL6A3 DMD DYSF
Sources

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 Global Registry for COL6-related Dystrophies Recruiting NCT04020159

Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy 1

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Genetic Tests for Ullrich Congenital Muscular Dystrophy 1

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Genetic tests related to Ullrich Congenital Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 1 29
2 Ullrich Congenital Muscular Dystrophy 29
Sources

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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MalaCards organs/tissues related to Ullrich Congenital Muscular Dystrophy 1:

40
Skeletal Muscle, Skin, Heart, Testes
Sources

Publications for Ullrich Congenital Muscular Dystrophy 1

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Articles related to Ullrich Congenital Muscular Dystrophy 1:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Natural history of Ullrich congenital muscular dystrophy. 61 56 6
19564581 2009
2
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 54 56 6
16130093 2005
3
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 61 56 6
11992252 2002
4
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 56 6
11381124 2001
5
Collagen VI related muscle disorders. 54 61 56
16141002 2005
6
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 54 61 6
16075202 2005
7
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 54 61 56
15689448 2005
8
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 54 61 56
15563506 2005
9
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 54 61 56
12840783 2003
10
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 54 61 6
12218063 2002
11
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 54 61 56
12011280 2002
12
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 61 56
24038877 2013
13
Congenital muscular dystrophies. 61 56
23622361 2013
14
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 61 56
21280092 2011
15
Early onset collagen VI myopathies: Genetic and clinical correlations. 61 56
20976770 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. 61 6
20729548 2010
17
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. 61 6
20106987 2010
18
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. 61 56
19015158 2009
19
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 61 56
18825676 2008
20
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. 61 56
18362356 2008
21
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 61 56
17785674 2007
22
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. 61 56
17215366 2007
23
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. 61 56
15690374 2005
24
Collagen Type VI-Related Disorders 61 6
20301676 2004
25
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. 61 56
14625552 2003
26
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. 54 56
12297580 2002
27
Frameshift mutation in the collagen VI gene causes Ullrich's disease. 54 6
11506412 2001
28
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
29
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 6
24334604 2014
30
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
31
On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al. 56
19293242 2009
32
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 56
17702048 2007
33
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. 56
17785673 2007
34
Congenital Muscular Dystrophy Overview 6
20301468 2001
35
Otto Ullrich and his syndromes. 56
1951453 1991
36
Ullrich's congenital atonic sclerotic muscular dystrophy. A case report. 56
2651568 1989
37
Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs. 56
3239582 1988
38
Congenital, hypotonic-sclerotic muscular dystrophy. 56
604494 1977
39
Autosomal recessive inheritance of classic Bethlem myopathy. 54 61
19884007 2009
40
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 54 61
18366090 2008
41
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 54 61
17537636 2007
42
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. 54 61
15965965 2006
43
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. 54 61
16447767 2005
44
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study. 61
31471117 2019
45
Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy. 61
31096686 2019
46
[Clinical manifestations and genetics analysis of collagen type â…¥-related myopathy caused by variants in COL6A3 gene]. 61
30695889 2019
47
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. 61
31044083 2019
48
Prediction of postnatal developmental disabilities using the antenatal fetal neurodevelopmental test: KANET assessment. 61
30098288 2018
49
Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond. 61
29277723 2018
50
Collagen VI is required for the structural and functional integrity of the neuromuscular junction. 61
29752552 2018
Sources

Variations for Ullrich Congenital Muscular Dystrophy 1

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ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A3 NM_057166.5(COL6A3):c.5109+5G>ASNV Pathogenic 17150 2:238257251-238257251 2:237348608-237348608
2 COL6A3 NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter)SNV Pathogenic 17151 rs121434554 2:238290062-238290062 2:237381419-237381419
3 COL6A2 NM_058174.3(COL6A2):c.1151dup (p.Glu386fs)duplication Pathogenic 17156 21:47538557-47538558 21:46118643-46118644
4 COL6A2 COL6A2, IVS17AS, A-G, -2SNV Pathogenic 17157
5 COL6A2 NM_058174.3(COL6A2):c.1771-1G>ASNV Pathogenic 17158 21:47545179-47545179 21:46125265-46125265
6 COL6A2 COL6A2, 26-BP DEL, NT731deletion Pathogenic 17160
7 COL6A2 NM_001849.3(COL6A2):c.1117-10A>GSNV Pathogenic 17161 rs1568931397 21:47538518-47538518 21:46118604-46118604
8 COL6A1 NM_001848.2(COL6A1):c.857del (p.Pro286fs)deletion Pathogenic 17177 rs797044457 21:47409049-47409049 21:45989135-45989135
9 COL6A1 NM_001848.2(COL6A1):c.1465del (p.Ala489fs)deletion Pathogenic 17178 rs797044458 21:47417617-47417617 21:45997703-45997703
10 COL6A1 NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter)SNV Pathogenic 17179 rs121912937 21:47421895-47421895 21:46001981-46001981
11 COL6A1 NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg)SNV Pathogenic 17180 rs121912938 21:47409043-47409043 21:45989129-45989129
12 COL6A1 NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg)SNV Pathogenic 17182 rs267606746 21:47409034-47409034 21:45989120-45989120
13 COL6A2 NM_001849.3(COL6A2):c.2626C>A (p.Arg876Ser)SNV Pathogenic 29641 rs387906608 21:47552032-47552032 21:46132118-46132118
14 COL6A2 NM_001849.3(COL6A2):c.1856_1861del (p.Val619_Ile620del)deletion Pathogenic 36916 rs398122821 21:47545415-47545420 21:46125501-46125506
15 COL6A2 NM_001849.3(COL6A2):c.1771-1G>TSNV Pathogenic 36917 rs748035948 21:47545179-47545179 21:46125265-46125265
16 COL6A3 NM_004369.3(COL6A3):c.6210+1G>ASNV Pathogenic 94956 rs398124126 2:238269763-238269763 2:237361120-237361120
17 COL6A2 NM_001849.3(COL6A2):c.2422+1G>ASNV Pathogenic 280693 rs113828929 21:47546152-47546152 21:46126238-46126238
18 COL6A3 NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter)SNV Pathogenic/Likely pathogenic 94911 rs398124119 2:238303764-238303764 2:237395121-237395121
19 COL6A3 NM_004369.3(COL6A3):c.6309+1G>TSNV Pathogenic/Likely pathogenic 288503 rs886043919 2:238268004-238268004 2:237359361-237359361
20 COL6A1 NM_001848.2(COL6A1):c.1483C>T (p.Pro495Ser)SNV Likely pathogenic 617567 rs1569518677 21:47417635-47417635 21:45997721-45997721
21 COL6A1 NM_001848.2(COL6A1):c.787G>T (p.Gly263Cys)SNV Likely pathogenic 623127 rs1569517943 21:47407551-47407551 21:45987637-45987637
22 COL6A2 NM_001849.3(COL6A2):c.2875G>A (p.Glu959Lys)SNV Likely pathogenic 632582 rs150168522 21:47552281-47552281 21:46132367-46132367
23 COL6A3 NM_004369.3(COL6A3):c.7669-2deldeletion Likely pathogenic 417888 rs764193290 2:238250806-238250806 2:237342163-237342163
24 COL6A3 NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter)SNV Likely pathogenic 635081 rs771941724 2:238272009-238272009 2:237363366-237363366
25 COL6A1 NM_001848.2(COL6A1):c.904-39A>GSNV Likely pathogenic 635019 rs1569518138 21:47409627-47409627 21:45989713-45989713
26 COL6A3 NM_004369.3(COL6A3):c.6283-2A>CSNV Likely pathogenic 208448 rs797044988 2:238268033-238268033 2:237359390-237359390
27 COL6A2 NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg)SNV Likely pathogenic 17166 rs267606747 21:47546058-47546058 21:46126144-46126144
28 COL6A2 NM_001849.3(COL6A2):c.2040dup (p.Ile681fs)duplication Likely pathogenic 266110 rs886039905 21:47545768-47545769 21:46125854-46125855
29 COL6A3 NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu)SNV Conflicting interpretations of pathogenicity 162547 rs114284669 2:238285445-238285445 2:237376802-237376802
30 COL6A1 NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys)SNV Conflicting interpretations of pathogenicity 195150 rs137964147 21:47402652-47402652 21:45982738-45982738
31 COL6A2 NM_001849.4(COL6A2):c.2795C>TSNV Conflicting interpretations of pathogenicity 17164 rs117725825 21:47552201-47552201 21:46132287-46132287
32 COL6A1 NM_001848.2(COL6A1):c.2911G>A (p.Val971Met)SNV Conflicting interpretations of pathogenicity 476434 rs769795690 21:47423751-47423751 21:46003837-46003837
33 COL6A1 NM_001848.2(COL6A1):c.349G>A (p.Val117Met)SNV Conflicting interpretations of pathogenicity 128813 rs150686304 21:47404304-47404304 21:45984390-45984390
34 COL6A2 NM_001849.3(COL6A2):c.1970-3C>ASNV Conflicting interpretations of pathogenicity 93927 rs201879417 21:47545696-47545696 21:46125782-46125782
35 COL6A3 NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val)SNV Uncertain significance 128822 rs142851023 2:238249550-238249550 2:237340907-237340907
36 COL6A2 NM_001849.3(COL6A2):c.169G>A (p.Val57Ile)SNV Uncertain significance 282475 rs768434256 21:47531946-47531946 21:46112032-46112032
37 COL6A2 NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg)SNV Uncertain significance 284693 rs886042922 21:47545926-47545926 21:46126012-46126012
38 COL6A3 NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe)SNV Uncertain significance 284966 rs886042996 2:238283235-238283235 2:237374592-237374592
39 COL6A1 NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu)SNV Uncertain significance 285997 rs755589190 21:47422212-47422212 21:46002298-46002298
40 COL6A3 NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg)SNV Uncertain significance 288419 rs370664069 2:238285430-238285430 2:237376787-237376787
41 COL6A2 NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser)SNV Uncertain significance 476480 rs200200671 21:47552333-47552333 21:46132419-46132419
42 COL6A2 NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys)SNV Uncertain significance 502086 rs1051148162 21:47552435-47552435 21:46132521-46132521
43 COL12A1 NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)SNV Uncertain significance 522739 rs1235556906 6:75892897-75892897 6:75183181-75183181
44 COL6A3 NM_004369.3(COL6A3):c.2236C>A (p.Leu746Ile)SNV Uncertain significance 548596 rs755052076 2:238287540-238287540 2:237378897-237378897
45 COL12A1 NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)SNV Uncertain significance 548487 rs1013873051 6:75890711-75890711 6:75180995-75180995
46 COL6A2 NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn)SNV Uncertain significance 288586 rs375884809 21:47545980-47545980 21:46126066-46126066
47 COL6A3 NM_004369.3(COL6A3):c.709+8C>TSNV Uncertain significance 288686 rs779535244 2:238303222-238303222 2:237394579-237394579
48 COL6A3 NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu)SNV Uncertain significance 289646 rs150694150 2:238274354-238274354 2:237365711-237365711
49 COL6A3 NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp)SNV Uncertain significance 289937 rs201962257 2:238283511-238283511 2:237374868-237374868
50 COL12A1 NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)SNV Uncertain significance 638444 6:75898963-75898963 6:75189247-75189247

UniProtKB/Swiss-Prot genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 COL6A1 p.Gly281Arg VAR_058217 rs267606746
2 COL6A1 p.Gly284Arg VAR_058218 rs121912938
3 COL6A1 p.Gly290Arg VAR_058219 rs121912939
4 COL6A2 p.Gly283Arg VAR_058226 rs267606748
5 COL6A2 p.Arg498His VAR_058228 rs267606749
6 COL6A2 p.Gly531Arg VAR_058230
7 COL6A2 p.Arg784His VAR_058234 rs75120695
8 COL6A2 p.Leu837Pro VAR_058236 rs125551482
9 COL6A2 p.Arg876Ser VAR_058238 rs387906608
10 COL6A3 p.Arg1395Gln VAR_058251 rs80272723
11 COL6A3 p.Asp1674Asn VAR_058255 rs778940391

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Expression for Ullrich Congenital Muscular Dystrophy 1

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Search GEO for disease gene expression data for Ullrich Congenital Muscular Dystrophy 1.
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Pathways for Ullrich Congenital Muscular Dystrophy 1

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Pathways related to Ullrich Congenital Muscular Dystrophy 1 according to KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

Pathways related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.72 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
2
Focal Adhesion 1 36
Show member pathways
 12.57 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
3
Collagen chain trimerization 65
Show member pathways
 12.46 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
4
Degradation of the extracellular matrix 65
Show member pathways
 11.93 LAMA2 DMD COL6A6 COL6A5 COL6A3 COL6A2
5
ECM-receptor interaction 36
Show member pathways
 11.83 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
6
miRNA targets in ECM and membrane receptors 1
11.18 COL6A3 COL6A2 COL6A1
7
NCAM1 interactions 65
10.92 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
8
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.74 LAMA2 DMD
9
G-protein signaling_Rap2B regulation pathway 22
10.73 LAMA2 COL6A3 COL6A2 COL6A1 COL12A1
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GO Terms for Ullrich Congenital Muscular Dystrophy 1

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Cellular components related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.77 FKBP14 COL6A3 COL6A2 COL6A1 COL12A1
2 collagen-containing extracellular matrix GO:0062023 9.76 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
3 extracellular matrix GO:0031012 9.73 COL6A6 COL6A3 COL6A2 COL6A1 COL12A1 BGN
4 extracellular vesicle GO:1903561 9.58 COL6A3 COL6A2 COL12A1
5 collagen trimer GO:0005581 9.43 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
6 collagen type VI trimer GO:0005589 9.32 COL6A3 COL6A1
7 sarcolemma GO:0042383 9.17 LAMA2 DYSF DMD COL6A3 COL6A2 COL6A1

Biological processes related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.61 UPF1 SMG8 SMG1
2 extracellular matrix organization GO:0030198 9.55 LAMA2 COL6A3 COL6A2 COL6A1 BGN
3 muscle organ development GO:0007517 9.5 LAMA2 DMD COL6A3
4 cell adhesion GO:0007155 9.5 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
5 skeletal muscle tissue regeneration GO:0043403 9.48 DYSF DMD
6 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.46 PPIF LMNA
7 muscle fiber development GO:0048747 9.4 DYSF DMD
8 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.37 SELENON DMD
9 regulation of telomere maintenance GO:0032204 9.26 UPF1 SMG1
10 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.92 COL6A3 COL6A2 COL6A1 COL12A1

Molecular functions related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
2 telomeric DNA binding GO:0042162 8.96 UPF1 SMG1
Sources

Sources for Ullrich Congenital Muscular Dystrophy 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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