UCMD1
MCID: ULL002
MIFTS: 56

Ullrich Congenital Muscular Dystrophy 1 (UCMD1)

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 1

MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 57 72 29 6
Ullrich Congenital Muscular Dystrophy 57 12 20 72 29 13 54 6 15
Ullrich Disease 57 12 20 58 72 36
Ullrich Scleroatonic Muscular Dystrophy 57 12 20 72
Scleroatonic Muscular Dystrophy 20 58 72 70
Ucmd 57 20 58 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 57 72
Lgmdr22 57 72
Ucmd1 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22; Lgmdr22 57
Dystrophy, Muscular, Congenital, Ullrich, Type 1 39
Ullrich Congenital Muscular Dystrophy; Ucmd 57
Congenital Muscular Dystrophy, Ullrich Type 58
Late Onset Scleroatonic Familial Myopathy 20
Dystrophy, Muscular, Congenital, Ullrich 39
Muscular Dystrophy, Scleroatonic 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare neurological diseases


Summaries for Ullrich Congenital Muscular Dystrophy 1

GARD : 20 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 vi-related dystrophies, 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 and skin, and related phenotypes are kyphosis and elevated serum creatine kinase

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® : 57 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) (Updated 20-May-2021)

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 : 72 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.

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

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 92)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 33.1 COL6A3 COL6A2 COL6A1
2 collagen vi-related dystrophies 31.7 COL6A3 COL6A2 COL6A1
3 myopathy 31.0 SGCG SGCA SELENON LAMA2 HSPG2 DYSF
4 bethlem myopathy 1 30.7 SGCG SGCA SELENON PPIF LAMA2 HSPG2
5 muscular dystrophy, congenital, lmna-related 30.6 SELENON LAMA2 HSPG2 DYSF DAG1 COL6A3
6 limb-girdle muscular dystrophy 30.6 SGCG SGCA LAMA2 DYSF CAPN3
7 muscular dystrophy, duchenne type 30.4 SGCA LAMA2 DAG1
8 muscular dystrophy 30.3 SGCG SGCA SELENON MDCMP LAMA2 HSPG2
9 rigid spine muscular dystrophy 1 30.1 SELENON MDCMP LAMA2 DYSF DAG1 CAPN3
10 ullrich congenital muscular dystrophy 2 11.8
11 collagen vi related muscular dystrophy 11.3
12 nail disorder, nonsyndromic congenital, 8 10.4 COL6A6 COL6A2
13 congenital muscular dystrophy-dystroglycanopathy type a10 10.4 SELENON LAMA2
14 scoliosis 10.4
15 muscular dystrophy, congenital, 1b 10.4 LAMA2 DAG1
16 congenital muscular dystrophy-dystroglycanopathy a14 10.4 SELENON LAMA2 DAG1
17 congenital muscular dystrophy-dystroglycanopathy type a11 10.4 SELENON DAG1
18 limb-girdle muscular dystrophy type 1a 10.4 DYSF CAPN3
19 cardiomyopathy, dilated, 1d 10.4 LAMA2 DAG1
20 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 DYSF CAPN3
21 muscular dystrophy-dystroglycanopathy , type c, 2 10.4 DAG1 CAPN3
22 myopathy, myofibrillar, 2 10.4 SELENON CRYAA
23 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4 DYSF CRYAA CAPN3
24 cardiomyopathy, dilated, 3b 10.4 SGCA DYSF DAG1
25 respiratory failure 10.4
26 muscular dystrophy-dystroglycanopathy , type c, 1 10.4 SGCG DAG1
27 dysferlinopathy 10.4 SGCA DYSF CAPN3
28 muscular dystrophy, limb-girdle, autosomal recessive 4 10.4 SGCA DYSF CAPN3
29 muscular dystrophy-dystroglycanopathy , type c, 4 10.4 DYSF DAG1 CAPN3
30 muscular dystrophy, limb-girdle, autosomal dominant 2 10.4 SGCG DYSF CAPN3
31 muscular dystrophy, limb-girdle, autosomal recessive 8 10.4 DYSF CAPN3
32 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 SELENON DYSF CAPN3
33 congenital fiber-type disproportion 10.3 SELENON LAMA2 DYSF
34 batten-turner congenital myopathy 10.3 SELENON MDCMP LAMA2 DYSF
35 nonaka myopathy 10.3 DYSF DAG1 CAPN3
36 tibial muscular dystrophy 10.3 SGCG DYSF CAPN3
37 x-linked monogenic disease 10.3 SGCA DAG1 CRYAA
38 congenital muscular dystrophy-dystroglycanopathy type a 10.3 SGCA LAMA2 HSPG2 DAG1
39 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.3 LAMA2 DAG1
40 muscular dystrophy-dystroglycanopathy , type a, 4 10.3 SGCA LAMA2 HSPG2 DAG1
41 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 SGCG SGCA DYSF CAPN3
42 alport syndrome 10.3 LAMA2 HSPG2 CRYAA
43 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 SGCG SGCA DYSF CAPN3
44 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 SGCG SGCA DYSF CAPN3
45 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 SGCG SGCA DYSF CAPN3
46 miyoshi muscular dystrophy 3 10.3 DYSF CAPN3
47 myofibrillar myopathy 10.3 SELENON DYSF CRYAA CAPN3
48 arrhythmogenic right ventricular cardiomyopathy 10.3 SGCG SGCA LAMA2 DAG1
49 helix syndrome 10.3
50 myopathy, proximal, with ophthalmoplegia 10.3

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



Diseases related to Ullrich Congenital Muscular Dystrophy 1

Symptoms & Phenotypes for Ullrich Congenital Muscular Dystrophy 1

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
2 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
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 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
7 increased variability in muscle fiber diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0003557
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 increased endomysial connective tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0100297
11 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
12 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
15 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
16 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
17 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
18 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
19 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
20 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
21 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
22 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
23 diaphragmatic weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009113
24 slender finger 58 31 frequent (33%) Frequent (79-30%) HP:0001238
25 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
26 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
27 long toe 58 31 frequent (33%) Frequent (79-30%) HP:0010511
28 pes valgus 58 31 frequent (33%) Frequent (79-30%) HP:0008081
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 motor delay 31 HP:0001270
40 talipes equinovarus 31 HP:0001762
41 type 1 muscle fiber predominance 31 HP:0003803
42 slender build 31 HP:0001533
43 protruding ear 31 HP:0000411
44 round face 31 HP:0000311
45 follicular hyperkeratosis 31 HP:0007502
46 mildly elevated creatine kinase 31 HP:0008180
47 congenital muscular dystrophy 31 HP:0003741
48 abnormality of muscle fibers 58 Very frequent (99-80%)
49 proximal muscle weakness 31 HP:0003701
50 distal joint laxity 31 HP:0020152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Muscle Soft Tissue:
muscle fiber necrosis
delayed motor milestones
hypotonia, neonatal
muscle weakness, proximal greater than distal
generalized muscle atrophy
more
Respiratory:
nocturnal hypoventilation
respiratory insufficiency due to muscle weakness often requiring ventilatory assistance
recurrent chest infections

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

Skeletal:
distal joint laxity
proximal joint contractures

Skeletal Hands:
increased laxity of fingers

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

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 (Updated 20-May-2021)

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.36 CAPN3 COL12A1 COL6A1 COL6A3 DAG1 DYSF

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

Search Clinical Trials , NIH Clinical Center for Ullrich Congenital Muscular Dystrophy 1

Genetic Tests for Ullrich Congenital Muscular Dystrophy 1

Genetic tests related to Ullrich Congenital Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 1 29 COL6A1 COL6A2 COL6A3
2 Ullrich Congenital Muscular Dystrophy 29

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

40
Skeletal Muscle, Skin

Publications for Ullrich Congenital Muscular Dystrophy 1

Articles related to Ullrich Congenital Muscular Dystrophy 1:

(show top 50) (show all 169)
# Title Authors PMID Year
1
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 61 54 57 6
15563506 2005
2
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. 6 57 61
24038877 2013
3
Natural history of Ullrich congenital muscular dystrophy. 61 6 57
19564581 2009
4
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 54 6 57
16130093 2005
5
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 57 6 61
11992252 2002
6
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 6 57
11381124 2001
7
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 54 6 61
18366090 2008
8
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 61 6 54
16075202 2005
9
Collagen VI related muscle disorders. 54 57 61
16141002 2005
10
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 61 54 57
15689448 2005
11
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 61 54 57
12840783 2003
12
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 6 61 54
12218063 2002
13
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 61 54 57
12011280 2002
14
Congenital muscular dystrophies. 61 57
23622361 2013
15
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 57 61
21280092 2011
16
Early onset collagen VI myopathies: Genetic and clinical correlations. 61 57
20976770 2010
17
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. 6 61
20729548 2010
18
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. 61 6
20106987 2010
19
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. 61 57
19015158 2009
20
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 61 57
18825676 2008
21
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. 57 61
18362356 2008
22
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 57 61
17785674 2007
23
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. 57 61
17215366 2007
24
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. 57 61
15690374 2005
25
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. 57 61
14625552 2003
26
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. 54 57
12297580 2002
27
Frameshift mutation in the collagen VI gene causes Ullrich's disease. 6 54
11506412 2001
28
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
29
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. 6
29342313 2018
30
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
31
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 6
28424332 2017
32
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. 6
27348394 2017
33
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 6
27159402 2016
34
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 6
24334769 2014
35
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 6
24334604 2014
36
On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al. 57
19293242 2009
37
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 57
17702048 2007
38
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. 57
17785673 2007
39
Otto Ullrich and his syndromes. 57
1951453 1991
40
Ullrich's congenital atonic sclerotic muscular dystrophy. A case report. 57
2651568 1989
41
Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs. 57
3239582 1988
42
Congenital, hypotonic-sclerotic muscular dystrophy. 57
604494 1977
43
Autosomal recessive inheritance of classic Bethlem myopathy. 54 61
19884007 2009
44
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 54 61
17537636 2007
45
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. 54 61
15965965 2006
46
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. 61 54
16447767 2005
47
COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy. 61
33382107 2021
48
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report. 61
33750322 2021
49
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. 61
33441455 2021
50
Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment. 61
33529318 2021

Variations for Ullrich Congenital Muscular Dystrophy 1

ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

6 (show top 50) (show all 933)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL6A3 NM_004369.4(COL6A3):c.6930+5G>A SNV Pathogenic 17150 rs749037028 GRCh37: 2:238257251-238257251
GRCh38: 2:237348608-237348608
2 COL6A3 NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) SNV Pathogenic 17151 rs121434554 GRCh37: 2:238290062-238290062
GRCh38: 2:237381419-237381419
3 COL6A2 NM_001849.4(COL6A2):c.1151dup (p.Glu386fs) Duplication Pathogenic 17156 rs1601231322 GRCh37: 21:47538557-47538558
GRCh38: 21:46118643-46118644
4 COL6A2 COL6A2, IVS17AS, A-G, -2 SNV Pathogenic 17157 GRCh37:
GRCh38:
5 COL6A2 NM_001849.4(COL6A2):c.1771-1G>A SNV Pathogenic 17158 rs748035948 GRCh37: 21:47545179-47545179
GRCh38: 21:46125265-46125265
6 COL6A2 COL6A2, 26-BP DEL, NT731 Deletion Pathogenic 17160 GRCh37:
GRCh38:
7 COL6A2 NM_001849.3(COL6A2):c.1117-10A>G SNV Pathogenic 17161 rs1568931397 GRCh37: 21:47538518-47538518
GRCh38: 21:46118604-46118604
8 COL6A2 NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) SNV Pathogenic 17166 rs267606747 GRCh37: 21:47546058-47546058
GRCh38: 21:46126144-46126144
9 COL6A2 NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) SNV Pathogenic 17168 rs267606749 GRCh37: 21:47541504-47541504
GRCh38: 21:46121590-46121590
10 COL6A1 NM_001848.2(COL6A1):c.857del (p.Pro286fs) Deletion Pathogenic 17177 rs797044457 GRCh37: 21:47409049-47409049
GRCh38: 21:45989135-45989135
11 COL6A1 NM_001848.2(COL6A1):c.1465del (p.Ala489fs) Deletion Pathogenic 17178 rs797044458 GRCh37: 21:47417617-47417617
GRCh38: 21:45997703-45997703
12 COL6A1 NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) SNV Pathogenic 17179 rs121912937 GRCh37: 21:47421895-47421895
GRCh38: 21:46001981-46001981
13 COL6A1 NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) SNV Pathogenic 17182 rs267606746 GRCh37: 21:47409034-47409034
GRCh38: 21:45989120-45989120
14 COL6A2 NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) SNV Pathogenic 29640 rs387906607 GRCh37: 21:47545432-47545432
GRCh38: 21:46125518-46125518
15 COL6A2 NM_001849.3(COL6A2):c.2626C>A (p.Arg876Ser) SNV Pathogenic 29641 rs387906608 GRCh37: 21:47552032-47552032
GRCh38: 21:46132118-46132118
16 COL6A2 NM_001849.3(COL6A2):c.1855_1860del Deletion Pathogenic 36916 rs398122821 GRCh37: 21:47545415-47545420
GRCh38: 21:46125501-46125506
17 COL6A2 NM_001849.3(COL6A2):c.1771-1G>T SNV Pathogenic 36917 rs748035948 GRCh37: 21:47545179-47545179
GRCh38: 21:46125265-46125265
18 COL12A1 NM_004370.6(COL12A1):c.7840+1G>A SNV Pathogenic 204294 rs875989819 GRCh37: 6:75823317-75823317
GRCh38: 6:75113601-75113601
19 COL6A3 NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) SNV Pathogenic 94911 rs398124119 GRCh37: 2:238303764-238303764
GRCh38: 2:237395121-237395121
20 COL12A1 NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) SNV Pathogenic 475858 rs1329022055 GRCh37: 6:75865511-75865511
GRCh38: 6:75155795-75155795
21 COL12A1 NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) Deletion Pathogenic 475862 rs1554182935 GRCh37: 6:75861589-75861589
GRCh38: 6:75151873-75151873
22 COL12A1 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) SNV Pathogenic 204295 rs796052093 GRCh37: 6:75831103-75831103
GRCh38: 6:75121387-75121387
23 COL6A3 NM_004369.3(COL6A3):c.6309+1G>T SNV Pathogenic 288503 rs886043919 GRCh37: 2:238268004-238268004
GRCh38: 2:237359361-237359361
24 COL12A1 NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) SNV Pathogenic 642795 rs371399251 GRCh37: 6:75801078-75801078
GRCh38: 6:75091362-75091362
25 COL12A1 NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) SNV Pathogenic 647130 rs1582139761 GRCh37: 6:75861924-75861924
GRCh38: 6:75152208-75152208
26 COL12A1 NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) Deletion Pathogenic 657345 rs1471550984 GRCh37: 6:75853057-75853057
GRCh38: 6:75143341-75143341
27 COL12A1 NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) Deletion Pathogenic 661356 rs1582068925 GRCh37: 6:75822944-75822945
GRCh38: 6:75113228-75113229
28 COL12A1 NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) Duplication Pathogenic 642260 rs1582133194 GRCh37: 6:75858188-75858189
GRCh38: 6:75148472-75148473
29 COL12A1 NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) SNV Pathogenic 659962 rs1562223444 GRCh37: 6:75857508-75857508
GRCh38: 6:75147792-75147792
30 COL12A1 NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) SNV Pathogenic 692031 rs984314526 GRCh37: 6:75811720-75811720
GRCh38: 6:75102004-75102004
31 COL12A1 NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) Duplication Pathogenic 816811 rs1582196903 GRCh37: 6:75893168-75893169
GRCh38: 6:75183452-75183453
32 COL12A1 NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter) SNV Pathogenic 835532 GRCh37: 6:75812345-75812345
GRCh38: 6:75102629-75102629
33 COL12A1 NM_004370.6(COL12A1):c.8100+2T>C SNV Pathogenic 843473 GRCh37: 6:75818732-75818732
GRCh38: 6:75109016-75109016
34 COL12A1 NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) SNV Pathogenic 853507 GRCh37: 6:75858121-75858121
GRCh38: 6:75148405-75148405
35 COL6A2 NM_001849.3(COL6A2):c.2422+1G>A SNV Pathogenic 280693 rs113828929 GRCh37: 21:47546152-47546152
GRCh38: 21:46126238-46126238
36 COL12A1 NM_004370.6(COL12A1):c.4177del (p.Ile1393fs) Deletion Pathogenic 861370 GRCh37: 6:75858184-75858184
GRCh38: 6:75148468-75148468
37 COL12A1 NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter) SNV Pathogenic 940321 GRCh37: 6:75839892-75839892
GRCh38: 6:75130176-75130176
38 COL6A2 NM_001849.4(COL6A2):c.2462-2666C>T SNV Pathogenic 1029383 GRCh37: 21:47549202-47549202
GRCh38: 21:46129288-46129288
39 COL12A1 NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter) SNV Pathogenic 945967 GRCh37: 6:75834083-75834083
GRCh38: 6:75124367-75124367
40 COL12A1 NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs) Duplication Pathogenic 961675 GRCh37: 6:75857393-75857394
GRCh38: 6:75147677-75147678
41 COL12A1 NC_000006.12:g.75117547del Deletion Pathogenic 960454 GRCh37: 6:75827261-75827261
GRCh38: 6:75117545-75117545
42 COL6A3 NM_004369.4(COL6A3):c.6210+1G>A SNV Pathogenic 94956 rs398124126 GRCh37: 2:238269763-238269763
GRCh38: 2:237361120-237361120
43 COL6A1 NM_001848.3(COL6A1):c.850G>A SNV Pathogenic 17180 rs121912938 GRCh37: 21:47409043-47409043
GRCh38: 21:45989129-45989129
44 COL6A1 NM_001848.3(COL6A1):c.868G>A SNV Pathogenic 93894 rs121912939 GRCh37: 21:47409531-47409531
GRCh38: 21:45989617-45989617
45 COL6A1 NM_001848.3(COL6A1):c.930+189C>T SNV Pathogenic 542998 rs1556425596 GRCh37: 21:47409881-47409881
GRCh38: 21:45989967-45989967
46 COL12A1 NM_004370.6(COL12A1):c.8319+1G>C SNV Likely pathogenic 949905 GRCh37: 6:75813472-75813472
GRCh38: 6:75103756-75103756
47 COL6A2 NM_001849.3(COL6A2):c.1615C>T (p.Arg539Ter) SNV Likely pathogenic 497233 rs749593004 GRCh37: 21:47542795-47542795
GRCh38: 21:46122881-46122881
48 COL6A2 NM_001849.4(COL6A2):c.928-2A>G SNV Likely pathogenic 976375 GRCh37: 21:47536563-47536563
GRCh38: 21:46116649-46116649
49 COL12A1 NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) SNV Likely pathogenic 929448 GRCh37: 6:75861682-75861682
GRCh38: 6:75151966-75151966
50 COL12A1 NM_004370.6(COL12A1):c.8415+1G>C SNV Likely pathogenic 950749 GRCh37: 6:75812312-75812312
GRCh38: 6:75102596-75102596

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

72
# 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.Leu837Pro VAR_058236 rs125551482
8 COL6A2 p.Arg876Ser VAR_058238 rs387906608
9 COL6A3 p.Asp1674Asn VAR_058255 rs778940391

Expression for Ullrich Congenital Muscular Dystrophy 1

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

Pathways for Ullrich Congenital Muscular Dystrophy 1

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 LAMA2 HSPG2 COL6A3 COL6A2 COL6A1 COL12A1
2
Show member pathways
12.88 LAMA2 HSPG2 COL6A3 COL6A2 COL6A1 COL12A1
3
Show member pathways
12.79 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
4
Show member pathways
12.58 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
5
Show member pathways
12.57 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
6
Show member pathways
12.31 LAMA2 HSPG2 DAG1 COL6A6 COL6A5 COL6A3
7
Show member pathways
12.07 SGCG SGCA LAMA2 DAG1
8 11.94 SGCG SGCA LAMA2 DAG1
9
Show member pathways
11.42 LAMA2 HSPG2 DAG1 COL6A6 COL6A5 COL6A3
10 11.24 COL6A3 COL6A2 COL6A1
11 11.12 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
12 10.78 LAMA2 HSPG2 COL6A3 COL6A2 COL6A1 COL12A1
13 10.78 LAMA2 HSPG2 DAG1

GO Terms for Ullrich Congenital Muscular Dystrophy 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 LAMA2 HSPG2 DAG1 COL6A6 COL6A5 COL6A3
2 extracellular matrix GO:0031012 9.78 COL6A6 COL6A3 COL6A2 COL6A1
3 endoplasmic reticulum lumen GO:0005788 9.77 DAG1 COL6A3 COL6A2 COL6A1 COL12A1
4 basement membrane GO:0005604 9.63 LAMA2 HSPG2 DAG1
5 collagen trimer GO:0005581 9.63 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
6 collagen-containing extracellular matrix GO:0062023 9.61 LAMA2 HSPG2 DAG1 COL6A6 COL6A5 COL6A3
7 dystrophin-associated glycoprotein complex GO:0016010 9.49 SGCA DAG1
8 sarcoglycan complex GO:0016012 9.4 SGCG SGCA
9 dystroglycan complex GO:0016011 9.32 SGCA DAG1
10 collagen type VI trimer GO:0005589 9.26 COL6A3 COL6A1
11 sarcolemma GO:0042383 9.23 SGCG SGCA LAMA2 DYSF DAG1 COL6A3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.7 LAMA2 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.58 UPF1 SMG8 SMG1
3 skeletal muscle tissue regeneration GO:0043403 9.46 SGCA DAG1
4 programmed cell death GO:0012501 9.43 PPIF CAPN3
5 extracellular matrix organization GO:0030198 9.43 LAMA2 HSPG2 DAG1 COL6A3 COL6A2 COL6A1
6 regulation of telomere maintenance GO:0032204 9.37 UPF1 SMG1
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 SGCA DAG1
8 Schwann cell differentiation GO:0014037 9.26 LAMA2 DAG1
9 muscle organ development GO:0007517 9.02 SGCG SGCA LAMA2 COL6A3 CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 SGCA SELENON HSPG2 DYSF DAG1 CAPN3
2 telomeric DNA binding GO:0042162 9.16 UPF1 SMG1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1

Sources for Ullrich Congenital Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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