UCMD1
MCID: ULL002
MIFTS: 60

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 58 76 30 6
Ullrich Congenital Muscular Dystrophy 58 12 54 76 30 13 56 6 15
Ullrich Disease 58 12 54 60 76 38
Ullrich Scleroatonic Muscular Dystrophy 58 12 54 76
Scleroatonic Muscular Dystrophy 54 60 76 74
Ucmd 58 54 60 76
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 58 76
Lgmdr22 58 76
Ucmd1 58 76
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22; Lgmdr22 58
Dystrophy, Muscular, Congenital, Ullrich, Type 1 41
Ullrich Congenital Muscular Dystrophy; Ucmd 58
Congenital Muscular Dystrophy, Ullrich Type 60
Late Onset Scleroatonic Familial Myopathy 54
Dystrophy, Muscular, Congenital, Ullrich 41
Muscular Dystrophy, Scleroatonic 58

Characteristics:

Orphanet epidemiological data:

60
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
ullrich congenital muscular dystrophy 1:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Ullrich Congenital Muscular Dystrophy 1

NIH Rare Diseases : 54 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. The drugs Bevacizumab and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, brain and colon, and related phenotypes are kyphosis and generalized muscle weakness

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

OMIM : 58 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 : 76 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

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

60 33 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
2 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
3 spinal rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003306
4 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458
5 increased variability in muscle fiber diameter 60 33 hallmark (90%) Very frequent (99-80%) HP:0003557
6 increased endomysial connective tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0100297
7 hyperextensibility at wrists 60 33 hallmark (90%) Very frequent (99-80%) HP:0005072
8 increased laxity of fingers 60 33 hallmark (90%) Very frequent (99-80%) HP:0006149
9 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
10 abnormal palate morphology 33 hallmark (90%) HP:0000174
11 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
12 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
13 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
14 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987
15 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
16 respiratory failure 60 33 frequent (33%) Frequent (79-30%) HP:0002878
17 adducted thumb 60 33 frequent (33%) Frequent (79-30%) HP:0001181
18 slender finger 60 33 frequent (33%) Frequent (79-30%) HP:0001238
19 decreased fetal movement 60 33 frequent (33%) Frequent (79-30%) HP:0001558
20 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
21 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
22 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
23 generalized amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003700
24 knee flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006380
25 pes valgus 60 33 frequent (33%) Frequent (79-30%) HP:0008081
26 esotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000565
27 diaphragmatic weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009113
28 long toe 60 33 frequent (33%) Frequent (79-30%) HP:0010511
29 flexion contracture 60 33 Very frequent (99-80%) HP:0001371
30 high palate 33 HP:0000218
31 hyperhidrosis 33 HP:0000975
32 muscle weakness 60 Frequent (79-30%)
33 failure to thrive 33 HP:0001508
34 facial palsy 33 HP:0010628
35 neonatal hypotonia 33 HP:0001319
36 feeding difficulties in infancy 33 HP:0008872
37 respiratory insufficiency due to muscle weakness 33 HP:0002747
38 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
39 protruding ear 33 HP:0000411
40 motor delay 33 HP:0001270
41 joint laxity 33 HP:0001388
42 talipes equinovarus 33 HP:0001762
43 type 1 muscle fiber predominance 33 HP:0003803
44 slender build 33 HP:0001533
45 round face 33 HP:0000311
46 abnormality of the palate 60 Very frequent (99-80%)
47 proximal muscle weakness 33 HP:0003701
48 abnormality of muscle fibers 60 Very frequent (99-80%)
49 congenital muscular dystrophy 33 HP:0003741
50 recurrent lower respiratory tract infections 33 HP:0002783

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 BGN COL12A1 COL6A3 LAMA2 PLOD3 SMG1
2 growth/size/body region MP:0005378 9.76 BGN CAPN3 COL12A1 COL6A2 COL6A3 LAMA2
3 muscle MP:0005369 9.5 BGN CAPN3 COL12A1 COL6A1 COL6A3 LAMA2
4 skeleton MP:0005390 9.1 BGN COL12A1 COL6A3 LAMA2 PLOD3 SMG1

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

Drugs for Ullrich Congenital Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
3
Carboplatin Approved Phase 3 41575-94-4 38904 10339178 498142
4
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
5
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2 1177-87-3
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
9
Melphalan Approved Phase 3,Phase 2 148-82-3 460612 4053
10
Bortezomib Approved, Investigational Phase 3,Phase 2 179324-69-7 387447 93860
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
13
rituximab Approved Phase 3 174722-31-7 10201696
14
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
15
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
16
Doxil Approved June 1999 Phase 3 31703
17 Angiogenesis Inhibitors Phase 3,Phase 2
18 Angiogenesis Modulating Agents Phase 3,Phase 2
19 Antineoplastic Agents, Immunological Phase 3
20 Albumin-Bound Paclitaxel Phase 3
21 Antimitotic Agents Phase 3
22 Antineoplastic Agents, Phytogenic Phase 3
23 Pharmaceutical Solutions Phase 2, Phase 3
24 Cola Phase 3
25 glucocorticoids Phase 3,Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
27 Gastrointestinal Agents Phase 3,Phase 2
28 Antineoplastic Agents, Hormonal Phase 3,Phase 2
29 Hormone Antagonists Phase 3,Phase 2
30 Immunologic Factors Phase 3,Phase 2
31 Antiemetics Phase 3,Phase 2
32 Hormones Phase 3,Phase 2
33
protease inhibitors Phase 3,Phase 2
34 Autonomic Agents Phase 3,Phase 2
35 BB 1101 Phase 3,Phase 2
36 Peripheral Nervous System Agents Phase 3,Phase 2
37 Anti-Inflammatory Agents Phase 3,Phase 2
38 HIV Protease Inhibitors Phase 3,Phase 2
39 Antineoplastic Agents, Alkylating Phase 3
40 Anti-Bacterial Agents Phase 3
41 Immunosuppressive Agents Phase 3
42 Topoisomerase Inhibitors Phase 3
43 Alkylating Agents Phase 3
44 Antibiotics, Antitubercular Phase 3
45 Antirheumatic Agents Phase 3
46 Analgesics, Non-Narcotic Phase 3
47 Platelet Aggregation Inhibitors Phase 3
48 Analgesics Phase 3
49 Cyclooxygenase Inhibitors Phase 3
50 Anti-Inflammatory Agents, Non-Steroidal Phase 3

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Hemodynamic Effects of Stored Blood Transfusion in Intensive Care Patients Terminated NCT02050230 Phase 4
2 A Comparative Study Of PF-06439535 Plus Paclitaxel-Carboplatin And Bevacizumab Plus Paclitaxel-Carboplatin Patients With Advanced Non-Squamous NSCLC Completed NCT02364999 Phase 3 Bevacizumab-Pfizer;Bevacizumab-EU;Paclitaxel;Carboplatin
3 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
4 Trial on the Effect of Isatuximab to Lenaliodomide/Bortezomib/Dexamethasone (RVd) Induction and Lenalidomide Maintenance in Patients With Newly Diagnosed Myeloma (GMMG HD7) Recruiting NCT03617731 Phase 3 Lenalidomide;Bortezomib;Dexamethasone;Isatuximab
5 R-CHOP + R-HAD vs R-CHOP Followed by Maintenance Lenalidomide + Rituximab vs Rituximab for Older Patients With MCL Recruiting NCT01865110 Phase 3 R-CHOP;R-CHOP / R-HAD;Rituximab;Lenalidomide
6 Adjuvant Aspirin Treatment for Colon Cancer Patients Recruiting NCT02467582 Phase 3 Aspirin;Placebo
7 TKI and Interferon Alpha Evaluation Initiated by the German Chronic Myeloid Leukemia Study Group - the TIGER Study Active, not recruiting NCT01657604 Phase 3 Peginterferon α2b;Nilotinib
8 A Long-term Extension Study of PCI-32765 (Ibrutinib) Enrolling by invitation NCT01804686 Phase 3 PCI-32765 (Ibrutinib)
9 Treatment Optimization in Patients With Untreated Multiple Myeloma Terminated NCT02145598 Phase 2, Phase 3 Lenalidomide;Placebo
10 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
11 Study in Intensive Care Patients to Investigate the Clinical Effect of Repetitive Orally Inhaled Doses of AP301 on Alveolar Liquid Clearance in Acute Lung Injury Completed NCT01627613 Phase 2 AP301;Saline solution
12 Modafinil in Treating Children With Memory and Attention Problems Caused by Cancer Treatment for a Brain Tumor Completed NCT01381718 Phase 2 modafinil
13 Safety and Preliminary Efficacy of Sequential Multiple Ascending Doses of Solnatide to Treat Pulmonary Permeability Oedema in Patients With Moderate-to-severe ARDS Recruiting NCT03567577 Phase 2 Solnatide 25 mg powder for reconstitution for solution for inhalation;0.9% Saline Solution
14 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
15 Evaluation iNduction, Consolidation and Maintenance Treatment With Isatuximab , Carfilzomib, LEnalidomide and Dexamethasone Recruiting NCT03104842 Phase 2 Isatuximab;Carfilzomib;Lenalidomide;Dexamethasone
16 RAMucirumab in Combination Wth TAS102 vs. TAS102 Alone in Chemotherapy Refractory Metastatic Colorectal Cancer Patients Recruiting NCT03520946 Phase 2 Ramucirumab;TAS 102
17 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
18 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
19 MRI Perfusion Imaging at 3Tx Compared to Invasive FFR Measurements Unknown status NCT01277055
20 Capillary and Venous Blood Count Parameters Completed NCT00390988
21 DETECT-Diabetes Cardiovascular Risk-Evaluation: Targets and Essential Data for Commitment of Treatment Completed NCT01076608
22 Incidence of Blood Clots in Patients Undergoing Chemotherapy for Solid Tumors Completed NCT00433602
23 Type 2 Diabetes Mellitus: New Approaches to Optimize Medical Care in General Practice Completed NCT00742547 Not Applicable
24 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
25 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
26 Lung Ultrasound for the Detection of Pulmonary Atelectasis in the Perioperative Period Recruiting NCT02121275
27 Low Frequency, Ultra-low Tidal Volume Ventilation in Patients With ARDS and VV-ECMO Recruiting NCT03764319 Not Applicable
28 Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Recruiting NCT03531814 Not Applicable
29 Screening and Genetic Monitoring of Patients With Myelodysplastic Syndromes (MDS) Under Different Treatment Modalities by Cytogenetic Analyses of Circulating CD34+Cells Active, not recruiting NCT01355913
30 Telepsychology in Spinal Cord Injury Not yet recruiting NCT03711760 Not Applicable
31 Study to Assess Long-term Effectiveness of Zomacton® and Treatment Adherence in Patients With Growth Hormone Deficiency or Ullrich-Turner Syndrome Terminated NCT03274973 Zomacton
32 Methylphenidate for Cancer-Related Fatigue Terminated NCT01164956 Not Applicable methylphenidate

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 30 COL6A1 COL6A2 COL6A3
2 Ullrich Congenital Muscular Dystrophy 30

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

42
Skeletal Muscle, Brain, Colon, Bone, Spinal Cord, Myeloid, Skin

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:

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

ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

6 (show top 50) (show all 219)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh38 Chromosome 2, 237376802: 237376802
2 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh37 Chromosome 2, 238285445: 238285445
3 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh38 Chromosome 21, 46112011: 46112011
4 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh37 Chromosome 21, 47531925: 47531925
5 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh37 Chromosome 21, 47410200: 47410200
6 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh38 Chromosome 21, 45990286: 45990286
7 COL6A2 NM_001849.3(COL6A2): c.1063G> T (p.Gly355Cys) single nucleotide variant Likely pathogenic rs794727061 GRCh37 Chromosome 21, 47537797: 47537797
8 COL6A2 NM_001849.3(COL6A2): c.1063G> T (p.Gly355Cys) single nucleotide variant Likely pathogenic rs794727061 GRCh38 Chromosome 21, 46117883: 46117883
9 COL6A1 NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs794727121 GRCh37 Chromosome 21, 47410697: 47410697
10 COL6A1 NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs794727121 GRCh38 Chromosome 21, 45990783: 45990783
11 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
12 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh38 Chromosome 2, 237360131: 237360131
13 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh37 Chromosome 2, 238268021: 238268021
14 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh38 Chromosome 2, 237359378: 237359378
15 COL6A1 NM_001848.2(COL6A1): c.202C> T (p.Arg68Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137964147 GRCh37 Chromosome 21, 47402652: 47402652
16 COL6A1 NM_001848.2(COL6A1): c.202C> T (p.Arg68Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137964147 GRCh38 Chromosome 21, 45982738: 45982738
17 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
18 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh38 Chromosome 2, 237359390: 237359390
19 COL6A3 COL6A3, IVS29, A-G, +5 single nucleotide variant Pathogenic
20 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh37 Chromosome 2, 238290062: 238290062
21 COL6A3 NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs121434554 GRCh38 Chromosome 2, 237381419: 237381419
22 COL6A2 COL6A2, 1-BP INS, 1151C insertion Pathogenic
23 COL6A2 COL6A2, IVS17AS, A-G, -2 single nucleotide variant Pathogenic
24 COL6A2 COL6A2, IVS23AS, G-A, -1 single nucleotide variant Pathogenic
25 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
26 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh38 Chromosome 21, 46125509: 46125509
27 COL6A2 COL6A2, 26-BP DEL, NT731 deletion Pathogenic
28 COL6A2 NM_001849.3(COL6A2): c.1117-10A> G single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46118604: 46118604
29 COL6A2 NM_001849.3(COL6A2): c.1117-10A> G single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47538518: 47538518
30 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
31 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh38 Chromosome 21, 46126144: 46126144
32 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
33 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh38 Chromosome 21, 46121590: 46121590
34 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47410171: 47410171
35 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 21, 45990257: 45990257
36 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
37 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh38 Chromosome 21, 45984403: 45984403
38 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
39 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh38 Chromosome 21, 45990827: 45990827
40 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh37 Chromosome 21, 47409050: 47409050
41 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh38 Chromosome 21, 45989136: 45989136
42 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh38 Chromosome 21, 45997703: 45997703
43 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh37 Chromosome 21, 47417617: 47417617
44 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh37 Chromosome 21, 47421895: 47421895
45 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh38 Chromosome 21, 46001981: 46001981
46 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
47 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh38 Chromosome 21, 45989129: 45989129
48 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh37 Chromosome 21, 47409034: 47409034
49 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh38 Chromosome 21, 45989120: 45989120
50 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs387906607 GRCh37 Chromosome 21, 47545432: 47545432

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:

38
# 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
12.69 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
11.93 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
7
Show member pathways
11.93 BGN CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
8
Show member pathways
11.73 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
9 11.27 BGN 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 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 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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