MCID: ULL002
MIFTS: 52

Ullrich Congenital Muscular Dystrophy 1

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 1

MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 53 71 28
Ullrich Congenital Muscular Dystrophy 53 12 49 71 28 13 51 14
Ullrich Disease 53 12 49 55 71 36
Ullrich Scleroatonic Muscular Dystrophy 53 12 49 71
Scleroatonic Muscular Dystrophy 49 55 71 69
Ucmd 53 49 55 71
Ucmd1 53 71
Ullrich Congenital Muscular Dystrophy; Ucmd 53
Congenital Muscular Dystrophy, Ullrich Type 55
Late Onset Scleroatonic Familial Myopathy 49
Muscular Dystrophy, Scleroatonic 53

Characteristics:

Orphanet epidemiological data:

55
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
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:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Ullrich Congenital Muscular Dystrophy 1

NIH Rare Diseases : 49 Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern. Last updated: 3/4/2014

MalaCards based summary : Ullrich Congenital Muscular Dystrophy 1, also known as ullrich congenital muscular dystrophy, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including torticollis, generalized muscle weakness and short neck. An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include skeletal muscle, and related phenotypes are cellular and muscle

OMIM : 53 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 : 71 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:

53
Head And Neck Neck:
torticollis
neck weakness

Growth Other:
failure to thrive
slender build

Skeletal Pelvis:
hip dislocation

Skeletal Feet:
talipes equinovarus
calcaneal protrusion

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

Growth Weight:
low weight due to poor feeding

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

Skin Nails Hair Skin:
hyperhidrosis
follicular hyperkeratosis

Skeletal Spine:
scoliosis
kyphosis
spinal rigidity

Head And Neck Face:
round face
facial weakness, mild

Skeletal Hands:
increased laxity of fingers

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
prominent ears

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

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:

55 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 55 31 frequent (33%) Frequent (79-30%) HP:0000473
2 generalized muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003324
3 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
4 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
5 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
6 flexion contracture 55 31 Very frequent (99-80%) HP:0001371
7 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
8 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
9 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
10 respiratory failure 55 31 frequent (33%) Frequent (79-30%) HP:0002878
11 adducted thumb 55 31 frequent (33%) Frequent (79-30%) HP:0001181
12 slender finger 55 31 frequent (33%) Frequent (79-30%) HP:0001238
13 abnormality of the palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000174
14 decreased fetal movement 55 31 frequent (33%) Frequent (79-30%) HP:0001558
15 spinal rigidity 55 31 hallmark (90%) Very frequent (99-80%) HP:0003306
16 generalized hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001290
17 esotropia 55 31 frequent (33%) Frequent (79-30%) HP:0000565
18 generalized amyotrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003700
19 diaphragmatic weakness 55 31 frequent (33%) Frequent (79-30%) HP:0009113
20 knee flexion contracture 55 31 frequent (33%) Frequent (79-30%) HP:0006380
21 increased variability in muscle fiber diameter 55 31 hallmark (90%) Very frequent (99-80%) HP:0003557
22 long toe 55 31 frequent (33%) Frequent (79-30%) HP:0010511
23 pes valgus 55 31 frequent (33%) Frequent (79-30%) HP:0008081
24 elbow flexion contracture 55 31 frequent (33%) Frequent (79-30%) HP:0002987
25 hyperextensibility at wrists 55 31 hallmark (90%) Very frequent (99-80%) HP:0005072
26 increased laxity of fingers 55 31 hallmark (90%) Very frequent (99-80%) HP:0006149
27 increased endomysial connective tissue 55 31 hallmark (90%) Very frequent (99-80%) HP:0100297
28 frequent falls 55 31 frequent (33%) Frequent (79-30%) HP:0002359
29 muscle weakness 55 Frequent (79-30%)
30 joint laxity 31 HP:0001388
31 high palate 31 HP:0000218
32 hyperhidrosis 31 HP:0000975
33 failure to thrive 31 HP:0001508
34 facial palsy 31 HP:0010628
35 neonatal hypotonia 31 HP:0001319
36 feeding difficulties in infancy 31 HP:0008872
37 respiratory insufficiency due to muscle weakness 31 HP:0002747
38 protruding ear 31 HP:0000411
39 type 1 muscle fiber predominance 31 HP:0003803
40 slender build 31 HP:0001533
41 round face 31 HP:0000311
42 talipes equinovarus 31 HP:0001762
43 abnormality of muscle fibers 55 Very frequent (99-80%)
44 mildly elevated creatine phosphokinase 31 HP:0008180
45 motor delay 31 HP:0001270
46 congenital muscular dystrophy 31 HP:0003741
47 recurrent lower respiratory tract infections 31 HP:0002783
48 proximal muscle weakness 31 HP:0003701
49 emg: myopathic abnormalities 55 Very frequent (99-80%)
50 follicular hyperkeratosis 31 HP:0007502

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.56 SELENON SMG1 UPF1 COL12A1 COL6A3 LAMA2
2 muscle MP:0005369 9.23 SELENON CAPN3 COL12A1 COL6A1 COL6A3 LAMA2

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 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 28 COL6A1 COL6A2 COL6A3
2 Ullrich Congenital Muscular Dystrophy 28

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

38
Skeletal Muscle

Publications for Ullrich Congenital Muscular Dystrophy 1

Articles related to Ullrich Congenital Muscular Dystrophy 1:

(show all 40)
# Title Authors Year
1
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). ( 24938411 )
2014
2
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
3
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. ( 24801232 )
2014
4
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. ( 24855628 )
2014
5
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
6
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. ( 24959844 )
2014
7
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. ( 23668812 )
2013
8
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. ( 24665301 )
2013
9
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. ( 23572247 )
2013
10
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
11
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
12
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. ( 23940025 )
2013
13
Moderately progressive Ullrich congenital muscular dystrophy. ( 22016142 )
2012
14
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. ( 21280092 )
2011
15
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. ( 22028947 )
2011
16
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
17
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. ( 20106987 )
2010
18
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
19
Perioperative care of a child with Ullrich congenital muscular dystrophy. ( 19583090 )
2009
20
Ullrich congenital muscular dystrophy: report of nine cases from India. ( 19305075 )
2009
21
Natural history of Ullrich congenital muscular dystrophy. ( 19564581 )
2009
22
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. ( 19015158 )
2009
23
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. ( 19309692 )
2009
24
Skin changes in Ullrich congenital muscular dystrophy. ( 18948005 )
2008
25
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. ( 18435905 )
2008
26
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. ( 17215366 )
2007
27
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. ( 17537636 )
2007
28
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
29
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
30
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
31
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. ( 15690374 )
2005
32
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
33
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. ( 16075202 )
2005
34
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. ( 15563506 )
2005
35
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
36
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. ( 15229843 )
2004
37
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. ( 15127309 )
2004
38
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. ( 12840783 )
2003
39
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. ( 11992252 )
2002
40
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:

71 (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 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 COL6A3, IVS29, A-G, +5 single nucleotide variant Pathogenic
2 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh37 Chromosome 2, 238290062: 238290062
3 COL6A2 COL6A2, 1-BP INS, 1151C insertion Pathogenic
4 COL6A2 COL6A2, IVS17AS, A-G, -2 single nucleotide variant Pathogenic
5 COL6A2 COL6A2, IVS23AS, G-A, -1 single nucleotide variant Pathogenic
6 COL6A2 COL6A2, 26-BP DEL, NT731 deletion Pathogenic
7 COL6A2 COL6A2, IVS12AS, A-G, -10 single nucleotide variant Pathogenic
8 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
9 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Pathogenic rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
10 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
11 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
12 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh37 Chromosome 21, 47409050: 47409050
13 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh38 Chromosome 21, 45997703: 45997703
14 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh37 Chromosome 21, 47421895: 47421895
15 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
16 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh37 Chromosome 21, 47409034: 47409034
17 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
18 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh37 Chromosome 21, 47552032: 47552032
19 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh38 Chromosome 21, 46125265: 46125265
20 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh37 Chromosome 21, 47545417: 47545422
21 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
22 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
23 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
24 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
25 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh37 Chromosome 21, 47409559: 47409559
26 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic rs398123645 GRCh37 Chromosome 21, 47541472: 47541472
27 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh37 Chromosome 21, 47542021: 47542021
28 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh37 Chromosome 21, 47535841: 47535841
29 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs398124119 GRCh37 Chromosome 2, 238303764: 238303764
30 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh37 Chromosome 2, 238269763: 238269763
31 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh37 Chromosome 2, 238268730: 238268730
32 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh37 Chromosome 21, 47409666: 47409666
33 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh37 Chromosome 21, 47410200: 47410200
34 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
35 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh37 Chromosome 2, 238268021: 238268021
36 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic rs794727715 GRCh37 Chromosome 21, 47533988: 47533988
37 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh37 Chromosome 21, 47535796: 47535796
38 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh37 Chromosome 21, 47535942: 47535942
39 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
40 COL6A2 NM_001849.3(COL6A2): c.2040dupT (p.Ile681Tyrfs) duplication Likely pathogenic rs886039905 GRCh37 Chromosome 21, 47545769: 47545769
41 COL6A3 NM_004369.3(COL6A3): c.6157-2A> C single nucleotide variant Pathogenic rs886041434 GRCh37 Chromosome 2, 238269819: 238269819
42 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
43 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh37 Chromosome 2, 238275820: 238275820
44 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
45 COL6A3 NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs) deletion Pathogenic rs886042447 GRCh37 Chromosome 2, 238280536: 238280536
46 COL6A1 NM_001848.2(COL6A1): c.1075_1076delGGinsAA (p.Gly359Asn) indel Likely pathogenic rs886042646 GRCh37 Chromosome 21, 47410911: 47410912
47 COL6A1 NM_001848.2(COL6A1): c.914G> A (p.Gly305Glu) single nucleotide variant Likely pathogenic rs886042684 GRCh37 Chromosome 21, 47409676: 47409676
48 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Likely pathogenic rs764556767 GRCh37 Chromosome 21, 47418339: 47418339
49 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh37 Chromosome 21, 47418348: 47418348
50 COL6A1 NM_001848.2(COL6A1): c.805G> A (p.Gly269Arg) single nucleotide variant Likely pathogenic rs886042856 GRCh37 Chromosome 21, 47408998: 47408998

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
2
Show member pathways
12.78 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
11.91 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
8
Show member pathways
11.88 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
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 10.76 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 endoplasmic reticulum lumen GO:0005788 9.72 COL12A1 COL6A1 COL6A2 COL6A3 FKBP14
2 proteinaceous extracellular matrix GO:0005578 9.63 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
3 extracellular vesicle GO:1903561 9.58 COL12A1 COL6A2 COL6A3
4 sarcolemma GO:0042383 9.56 COL6A1 COL6A2 COL6A3 LAMA2
5 collagen type VI trimer GO:0005589 9.37 COL6A1 COL6A3
6 collagen trimer GO:0005581 9.35 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
7 extracellular matrix GO:0031012 9.23 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.5 CAPN3 COL6A3 LAMA2
2 extracellular matrix organization GO:0030198 9.46 COL6A1 COL6A2 COL6A3 LAMA2
3 collagen fibril organization GO:0030199 9.43 COL12A1 PLOD3
4 cell adhesion GO:0007155 9.43 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
5 endodermal cell differentiation GO:0035987 9.4 COL12A1 COL6A1
6 protein heterotrimerization GO:0070208 9.37 COL6A1 COL6A2
7 regulation of telomere maintenance GO:0032204 9.26 SMG1 UPF1
8 collagen catabolic process GO:0030574 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 8.62 SMG1 UPF1

Sources for Ullrich Congenital Muscular Dystrophy 1

3 CDC
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