MCID: ULL002
MIFTS: 54

Ullrich Congenital Muscular Dystrophy 1

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

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 muscular dystrophy, congenital, lmna-related, 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

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.

Wikipedia : 76 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with... more...

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

Head And Neck Face:
round face
facial weakness, mild

Head And Neck Neck:
torticollis
neck weakness

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

Growth Other:
failure to thrive
slender build

Skeletal Pelvis:
hip dislocation

Skeletal Feet:
talipes equinovarus
calcaneal protrusion

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:

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 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
9 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
10 adducted thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001181
11 slender finger 59 32 frequent (33%) Frequent (79-30%) HP:0001238
12 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
13 spinal rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003306
14 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
15 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
18 generalized amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003700
19 diaphragmatic weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009113
20 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
21 increased variability in muscle fiber diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0003557
22 long toe 59 32 frequent (33%) Frequent (79-30%) HP:0010511
23 pes valgus 59 32 frequent (33%) Frequent (79-30%) HP:0008081
24 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
25 increased endomysial connective tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0100297
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 protruding ear 32 HP:0000411
37 type 1 muscle fiber predominance 32 HP:0003803
38 slender build 32 HP:0001533
39 joint laxity 32 HP:0001388
40 round face 32 HP:0000311
41 talipes equinovarus 32 HP:0001762
42 abnormality of the palate 59 Very frequent (99-80%)
43 abnormality of muscle fibers 59 Very frequent (99-80%)
44 mildly elevated creatine phosphokinase 32 HP:0008180
45 motor delay 32 HP:0001270
46 congenital muscular dystrophy 32 HP:0003741
47 recurrent lower respiratory tract infections 32 HP:0002783
48 proximal muscle weakness 32 HP:0003701
49 emg: myopathic abnormalities 59 Very frequent (99-80%)
50 follicular hyperkeratosis 32 HP:0007502

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 9.76 LMNA PLOD3 SMG1 UPF1 BGN COL12A1
2 growth/size/body region MP:0005378 9.61 LMNA PLOD3 SMG1 BGN CAPN3 COL12A1
3 muscle MP:0005369 9.23 LMNA PLOD3 BGN CAPN3 COL12A1 COL6A1

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 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 41)
# Title Authors Year
1
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. ( 27375477 )
2016
2
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). ( 24938411 )
2014
3
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
4
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
5
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. ( 24855628 )
2014
6
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. ( 24959844 )
2014
7
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. ( 24801232 )
2014
8
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. ( 23572247 )
2013
9
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. ( 23668812 )
2013
10
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
11
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. ( 24665301 )
2013
12
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
13
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. ( 23940025 )
2013
14
Moderately progressive Ullrich congenital muscular dystrophy. ( 22016142 )
2012
15
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. ( 21280092 )
2011
16
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
17
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. ( 22028947 )
2011
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
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. ( 20106987 )
2010
20
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. ( 19015158 )
2009
21
Ullrich congenital muscular dystrophy: report of nine cases from India. ( 19305075 )
2009
22
Perioperative care of a child with Ullrich congenital muscular dystrophy. ( 19583090 )
2009
23
Natural history of Ullrich congenital muscular dystrophy. ( 19564581 )
2009
24
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. ( 19309692 )
2009
25
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. ( 18435905 )
2008
26
Skin changes in Ullrich congenital muscular dystrophy. ( 18948005 )
2008
27
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. ( 17215366 )
2007
28
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. ( 17537636 )
2007
29
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
30
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
31
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
32
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. ( 15563506 )
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
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
35
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. ( 15690374 )
2005
36
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
37
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. ( 15229843 )
2004
38
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. ( 15127309 )
2004
39
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. ( 12840783 )
2003
40
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. ( 11992252 )
2002
41
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 253)
# 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 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh38 Chromosome 2, 237381419: 237381419
4 COL6A2 COL6A2, 1-BP INS, 1151C insertion Pathogenic
5 COL6A2 COL6A2, IVS17AS, A-G, -2 single nucleotide variant Pathogenic
6 COL6A2 COL6A2, IVS23AS, G-A, -1 single nucleotide variant Pathogenic
7 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
8 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh38 Chromosome 21, 46125509: 46125509
9 COL6A2 COL6A2, 26-BP DEL, NT731 deletion Pathogenic
10 COL6A2 COL6A2, IVS12AS, A-G, -10 single nucleotide variant Pathogenic
11 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
12 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh38 Chromosome 21, 46126144: 46126144
13 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
14 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh37 Chromosome 21, 47410742: 47410742
15 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
16 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh38 Chromosome 21, 45984403: 45984403
17 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
18 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh38 Chromosome 21, 45990827: 45990827
19 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh37 Chromosome 21, 47409050: 47409050
20 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh38 Chromosome 21, 45989136: 45989136
21 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh38 Chromosome 21, 45997703: 45997703
22 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh37 Chromosome 21, 47417617: 47417617
23 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh37 Chromosome 21, 47421895: 47421895
24 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh38 Chromosome 21, 46001981: 46001981
25 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
26 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh38 Chromosome 21, 45989129: 45989129
27 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh37 Chromosome 21, 47409034: 47409034
28 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh38 Chromosome 21, 45989120: 45989120
29 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
30 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh38 Chromosome 21, 46125518: 46125518
31 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh37 Chromosome 21, 47552032: 47552032
32 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh38 Chromosome 21, 46132118: 46132118
33 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
34 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh38 Chromosome 21, 46117916: 46117916
35 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
36 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh38 Chromosome 21, 46132103: 46132103
37 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh37 Chromosome 21, 47545417: 47545422
38 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh38 Chromosome 21, 46125503: 46125508
39 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh38 Chromosome 21, 46125265: 46125265
40 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh37 Chromosome 21, 47545179: 47545179
41 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh37 Chromosome 2, 238269781: 238269781
42 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh38 Chromosome 2, 237361138: 237361138
43 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
44 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh38 Chromosome 21, 46115873: 46115873
45 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
46 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh38 Chromosome 21, 45989082: 45989082
47 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
48 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh38 Chromosome 21, 45989617: 45989617
49 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
50 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh38 Chromosome 21, 45989626: 45989626

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
2
Show member pathways
12.72 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
3
Show member pathways
12.63 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
12.06 CAPN3 LAMA2 LMNA
7
Show member pathways
11.93 BGN CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
8
Show member pathways
11.73 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
9 11.18 COL6A1 COL6A2 COL6A3
10 10.82 COL6A1 COL6A2 COL6A3 COL6A5

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 9.95 BGN COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 extracellular space GO:0005615 9.91 BGN COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
3 endoplasmic reticulum lumen GO:0005788 9.65 COL12A1 COL6A1 COL6A2 COL6A3 FKBP14
4 sarcolemma GO:0042383 9.55 BGN COL6A1 COL6A2 COL6A3 LAMA2
5 extracellular vesicle GO:1903561 9.54 COL12A1 COL6A2 COL6A3
6 collagen trimer GO:0005581 9.35 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
7 collagen type VI trimer GO:0005589 9.32 COL6A1 COL6A3
8 extracellular matrix GO:0031012 9.23 BGN COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
9 extracellular exosome GO:0070062 10 BGN COL12A1 COL6A1 COL6A2 COL6A3 LAMA2

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 collagen fibril organization GO:0030199 9.43 COL12A1 PLOD3
4 endodermal cell differentiation GO:0035987 9.4 COL12A1 COL6A1
5 protein heterotrimerization GO:0070208 9.37 COL6A1 COL6A2
6 extracellular matrix organization GO:0030198 9.35 BGN COL6A1 COL6A2 COL6A3 LAMA2
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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