UCMD1
MCID: ULL002
MIFTS: 55

Ullrich Congenital Muscular Dystrophy 1 (UCMD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 75 29 6
Ullrich Congenital Muscular Dystrophy 57 12 53 75 29 13 55 6 15
Ullrich Disease 57 12 53 59 75 37
Ullrich Scleroatonic Muscular Dystrophy 57 12 53 75
Scleroatonic Muscular Dystrophy 53 59 75 73
Ucmd 57 53 59 75
Ucmd1 57 75
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22; Lgmdr22 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 57
Dystrophy, Muscular, Congenital, Ullrich, Type 1 40
Ullrich Congenital Muscular Dystrophy; Ucmd 57
Congenital Muscular Dystrophy, Ullrich Type 59
Late Onset Scleroatonic Familial Myopathy 53
Dystrophy, Muscular, Congenital, Ullrich 40
Muscular Dystrophy, Scleroatonic 57
Lgmdr22 57

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
ullrich congenital muscular dystrophy 1:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Ullrich Congenital Muscular Dystrophy 1

NIH Rare Diseases : 53 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 myopathy, 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 short neck and scoliosis

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)

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis
follicular hyperkeratosis

Skeletal Spine:
scoliosis
kyphosis
spinal rigidity

Skeletal Pelvis:
hip dislocation

Head And Neck Neck:
torticollis
neck weakness

Skeletal Hands:
increased laxity of fingers

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
prominent ears

Growth Weight:
low weight due to poor feeding

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

Growth Other:
failure to thrive
slender build

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

Muscle Soft Tissue:
muscle fiber necrosis
delayed motor milestones
muscle biopsy shows increased variation in fiber size
hypotonia, neonatal
muscle weakness, proximal greater than distal
more
Neurologic Central Nervous System:
normal intelligence

Laboratory Abnormalities:
normal to mildly increased serum creatine kinase

Skeletal:
proximal joint contractures
distal joint laxity

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


Clinical features from OMIM:

254090

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
4 flexion contracture 59 32 Very frequent (99-80%) HP:0001371
5 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
6 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
9 spinal rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003306
10 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
11 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
12 adducted thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001181
13 slender finger 59 32 frequent (33%) Frequent (79-30%) HP:0001238
14 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
15 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
16 increased variability in muscle fiber diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0003557
17 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
18 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
19 generalized amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003700
20 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
21 increased endomysial connective tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0100297
22 pes valgus 59 32 frequent (33%) Frequent (79-30%) HP:0008081
23 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
24 diaphragmatic weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009113
25 long toe 59 32 frequent (33%) Frequent (79-30%) HP:0010511
26 hyperextensibility at wrists 59 32 hallmark (90%) Very frequent (99-80%) HP:0005072
27 increased laxity of fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0006149
28 high palate 32 HP:0000218
29 hyperhidrosis 32 HP:0000975
30 muscle weakness 59 Frequent (79-30%)
31 failure to thrive 32 HP:0001508
32 facial palsy 32 HP:0010628
33 neonatal hypotonia 32 HP:0001319
34 feeding difficulties in infancy 32 HP:0008872
35 respiratory insufficiency due to muscle weakness 32 HP:0002747
36 emg: myopathic abnormalities 59 Very frequent (99-80%)
37 protruding ear 32 HP:0000411
38 motor delay 32 HP:0001270
39 joint laxity 32 HP:0001388
40 talipes equinovarus 32 HP:0001762
41 type 1 muscle fiber predominance 32 HP:0003803
42 slender build 32 HP:0001533
43 round face 32 HP:0000311
44 abnormality of the palate 59 Very frequent (99-80%)
45 proximal muscle weakness 32 HP:0003701
46 abnormality of muscle fibers 59 Very frequent (99-80%)
47 mildly elevated creatine phosphokinase 32 HP:0008180
48 congenital muscular dystrophy 32 HP:0003741
49 recurrent lower respiratory tract infections 32 HP:0002783
50 nocturnal hypoventilation 32 HP:0002877

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 cellular MP:0005384 9.92 BGN COL12A1 COL6A3 LAMA2 LMNA PLOD3
2 growth/size/body region MP:0005378 9.81 BGN CAPN3 COL12A1 COL6A2 COL6A3 LAMA2
3 craniofacial MP:0005382 9.65 BGN LAMA2 LMNA PLOD3 SMG1
4 muscle MP:0005369 9.56 BGN CAPN3 COL12A1 COL6A1 COL6A3 LAMA2
5 skeleton MP:0005390 9.17 BGN COL12A1 COL6A3 LAMA2 LMNA PLOD3

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
3 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

41
Skeletal Muscle, Skin, Heart

Publications for Ullrich Congenital Muscular Dystrophy 1

Articles related to Ullrich Congenital Muscular Dystrophy 1:

(show all 44)
# Title Authors Year
1
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. ( 29894794 )
2018
2
Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study. ( 29129153 )
2017
3
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. ( 27375477 )
2016
4
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators. ( 26670220 )
2015
5
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). ( 24938411 )
2014
6
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
7
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
8
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. ( 24855628 )
2014
9
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. ( 24959844 )
2014
10
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. ( 24801232 )
2014
11
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. ( 23572247 )
2013
12
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. ( 23668812 )
2013
13
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
14
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. ( 24665301 )
2013
15
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
16
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. ( 23940025 )
2013
17
Moderately progressive Ullrich congenital muscular dystrophy. ( 22016142 )
2012
18
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. ( 21280092 )
2011
19
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
20
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. ( 22028947 )
2011
21
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
22
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. ( 20106987 )
2010
23
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. ( 19015158 )
2009
24
Ullrich congenital muscular dystrophy: report of nine cases from India. ( 19305075 )
2009
25
Perioperative care of a child with Ullrich congenital muscular dystrophy. ( 19583090 )
2009
26
Natural history of Ullrich congenital muscular dystrophy. ( 19564581 )
2009
27
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. ( 19309692 )
2009
28
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. ( 18435905 )
2008
29
Skin changes in Ullrich congenital muscular dystrophy. ( 18948005 )
2008
30
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. ( 17215366 )
2007
31
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. ( 17537636 )
2007
32
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
33
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
34
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
35
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. ( 15563506 )
2005
36
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
37
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
38
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. ( 15690374 )
2005
39
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
40
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. ( 15229843 )
2004
41
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. ( 15127309 )
2004
42
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. ( 12840783 )
2003
43
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. ( 11992252 )
2002
44
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. ( 12218063 )
2002

Variations for Ullrich Congenital Muscular Dystrophy 1

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

75 (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
9 COL6A2 p.Arg876Ser VAR_058238 rs387906608
10 COL6A3 p.Arg1395Gln VAR_058251 rs80272723
11 COL6A3 p.Asp1674Asn VAR_058255 rs778940391

ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

6 (show top 50) (show all 319)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A2 NM_001849.3(COL6A2): c.1117-10A> G single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47538518: 47538518
2 COL6A3 COL6A3, IVS29, A-G, +5 single nucleotide variant Pathogenic
3 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh37 Chromosome 2, 238290062: 238290062
4 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh38 Chromosome 2, 237381419: 237381419
5 COL6A2 COL6A2, 1-BP INS, 1151C insertion Pathogenic
6 COL6A2 COL6A2, IVS17AS, A-G, -2 single nucleotide variant Pathogenic
7 COL6A2 COL6A2, IVS23AS, G-A, -1 single nucleotide variant Pathogenic
8 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
9 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh38 Chromosome 21, 46125509: 46125509
10 COL6A2 COL6A2, 26-BP DEL, NT731 deletion Pathogenic
11 COL6A2 NM_001849.3(COL6A2): c.1117-10A> G single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46118604: 46118604
12 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
13 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh38 Chromosome 21, 46126144: 46126144
14 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
15 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh38 Chromosome 21, 46121590: 46121590
16 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
17 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh38 Chromosome 21, 45990257: 45990257
18 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
19 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh37 Chromosome 21, 47410742: 47410742
20 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
21 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh38 Chromosome 21, 45984403: 45984403
22 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
23 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh38 Chromosome 21, 45990827: 45990827
24 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh37 Chromosome 21, 47409050: 47409050
25 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh38 Chromosome 21, 45989136: 45989136
26 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh38 Chromosome 21, 45997703: 45997703
27 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh37 Chromosome 21, 47417617: 47417617
28 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh37 Chromosome 21, 47421895: 47421895
29 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh38 Chromosome 21, 46001981: 46001981
30 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
31 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh38 Chromosome 21, 45989129: 45989129
32 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh37 Chromosome 21, 47409034: 47409034
33 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh38 Chromosome 21, 45989120: 45989120
34 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
35 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh38 Chromosome 21, 46125518: 46125518
36 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh37 Chromosome 21, 47552032: 47552032
37 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh38 Chromosome 21, 46132118: 46132118
38 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
39 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh38 Chromosome 21, 46117916: 46117916
40 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
41 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh38 Chromosome 21, 46132103: 46132103
42 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh37 Chromosome 21, 47545417: 47545422
43 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh38 Chromosome 21, 46125503: 46125508
44 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh38 Chromosome 21, 46125265: 46125265
45 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh37 Chromosome 21, 47545179: 47545179
46 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh37 Chromosome 2, 238269781: 238269781
47 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh38 Chromosome 2, 237361138: 237361138
48 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
49 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh38 Chromosome 21, 46115873: 46115873
50 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh37 Chromosome 21, 47410931: 47410931

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:

37
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
2
Show member pathways
12.77 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
3
Show member pathways
12.7 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
4
Show member pathways
12.57 CAPN3 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
5
Show member pathways
12.46 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 PLOD3
6
Show member pathways
12.09 CAPN3 LAMA2 LMNA
7
Show member pathways
11.93 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
8
Show member pathways
11.93 BGN CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
9
Show member pathways
11.73 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
10 11.18 COL6A1 COL6A2 COL6A3
11 10.82 COL6A1 COL6A2 COL6A3 COL6A5
12 10.71 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2

GO Terms for Ullrich Congenital Muscular Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.98 BGN COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 extracellular exosome GO:0070062 9.93 BGN COL12A1 COL6A1 COL6A2 COL6A3 PLOD3
3 extracellular matrix GO:0031012 9.72 BGN COL12A1 COL6A1 COL6A2 COL6A3
4 endoplasmic reticulum lumen GO:0005788 9.65 COL12A1 COL6A1 COL6A2 COL6A3 FKBP14
5 extracellular vesicle GO:1903561 9.58 COL12A1 COL6A2 COL6A3
6 sarcolemma GO:0042383 9.55 BGN COL6A1 COL6A2 COL6A3 LAMA2
7 collagen type VI trimer GO:0005589 9.37 COL6A1 COL6A3
8 collagen trimer GO:0005581 9.35 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
9 collagen-containing extracellular matrix GO:0062023 9.23 BGN COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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 9.63 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
2 muscle organ development GO:0007517 9.5 CAPN3 COL6A3 LAMA2
3 IRE1-mediated unfolded protein response GO:0036498 9.46 FKBP14 LMNA
4 collagen fibril organization GO:0030199 9.43 COL12A1 PLOD3
5 endodermal cell differentiation GO:0035987 9.4 COL12A1 COL6A1
6 protein heterotrimerization GO:0070208 9.37 COL6A1 COL6A2
7 extracellular matrix organization GO:0030198 9.35 BGN COL6A1 COL6A2 COL6A3 LAMA2
8 regulation of telomere maintenance GO:0032204 9.26 SMG1 UPF1
9 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.92 COL12A1 COL6A1 COL6A2 COL6A3

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 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 telomeric DNA binding GO:0042162 8.96 SMG1 UPF1

Sources for Ullrich Congenital Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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