Ullrich Congenital Muscular Dystrophy 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ULL002 MIFTS: 54	Ullrich Congenital Muscular Dystrophy 1 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 254090

Disease Ontology ¹² DOID:0050558

Orphanet ⁵⁹ ORPHA75840

UMLS via Orphanet ⁷⁴ C0410179

ICD10 via Orphanet ³⁴ G71.2

MedGen ⁴² C0410179

MeSH ⁴⁴ D009136

KEGG ³⁷ H01778

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 27272007 more

UMLS ⁷³ C0410179

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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...

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Related Diseases for Ullrich Congenital Muscular Dystrophy 1

Diseases in the Ullrich Congenital Muscular Dystrophy 1 family:

Ullrich Congenital Muscular Dystrophy 2

Diseases related to Ullrich Congenital Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	collagen vi-related myopathy	32.7	COL6A1 COL6A2 COL6A3
2	muscular dystrophy, congenital, lmna-related	28.2	COL6A1 COL6A2 FKBP14 LAMA2 LMNA
3	muscular dystrophy	26.9	CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
4	ullrich congenital muscular dystrophy 2	12.5
5	ehlers-danlos syndrome, kyphoscoliotic type, 2	11.2
6	collagen vi related muscular dystrophy	11.2
7	muscle disorders	10.2	COL6A1 COL6A2 COL6A3
8	isolated hyperckemia	9.8	CAPN3 LAMA2
9	muscular dystrophy-dystroglycanopathy , type c, 5	9.7	CAPN3 LAMA2
10	rigid spine muscular dystrophy 1	9.7	COL6A2 FKBP14 LAMA2
11	myopathy, proximal, and ophthalmoplegia	9.6	COL6A1 COL6A2 LMNA
12	muscular dystrophy, congenital merosin-deficient, 1a	9.6	LAMA2 LMNA
13	cardiomyopathy, dilated, 1a	9.4	LAMA2 LMNA
14	muscular dystrophy-dystroglycanopathy , type b, 5	9.3	LAMA2 LMNA
15	muscle tissue disease	8.9	CAPN3 LAMA2 LMNA
16	trehalase deficiency	8.4	COL6A2 COL6A3 LAMA2 LMNA
17	bethlem myopathy 1	7.9	CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
18	myopathy	7.1	CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 FKBP14

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

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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

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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

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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

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Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

⁴¹

Skeletal Muscle, Skin, Heart

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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 )	Sardone F....Sabatelli P.	2016
2	Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). ( 24938411 )	Yonekawa T....Nishino I.	2014
3	Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )	Toni S....Pellegrini M.	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 )	Zulian A....Sabatelli P.	2014
5	Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. ( 24855628 )	Park Y....Kim D.H.	2014
6	Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. ( 24959844 )	Noguchi S....Nishino I.	2014
7	Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. ( 24801232 )	Zhang Y.Z....Xiong H.	2014
8	Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. ( 23572247 )	Yonekawa T....Nishino I.	2013
9	Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. ( 23668812 )	Plonka C....Feingold B.	2013
10	Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )	Miscione M.T....Merlini L.	2013
11	Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. ( 24665301 )	Bozorgmehr B....Kariminejad M.H.	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 )	Martoni E....Gualandi F.	2013
13	Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. ( 23940025 )	Liew W.K....Darras B.T.	2013
14	Moderately progressive Ullrich congenital muscular dystrophy. ( 22016142 )	Carakushansky G....Kahn E.	2012
15	Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. ( 21280092 )	Foley A.R....BAPnnemann C.G.	2011
16	The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )	BAPnnemann C.G.	2011
17	Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. ( 22028947 )	Merlini L....Bernardi P.	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 )	Tooley L.D....LamandAc S.R.	2010
19	Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. ( 20106987 )	Zhang R.Z....Chu M.L.	2010
20	Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. ( 19015158 )	Hicks D....Bushby K.M.	2009
21	Ullrich congenital muscular dystrophy: report of nine cases from India. ( 19305075 )	Nalini A....Santosh V.	2009
22	Perioperative care of a child with Ullrich congenital muscular dystrophy. ( 19583090 )	Puangsuvan N....Tobias J.D.	2009
23	Natural history of Ullrich congenital muscular dystrophy. ( 19564581 )	Nadeau A....Muntoni F.	2009
24	Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. ( 19309692 )	Martoni E....Gualandi F.	2009
25	Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. ( 18435905 )	Angelin A....Bernardi P.	2008
26	Skin changes in Ullrich congenital muscular dystrophy. ( 18948005 )	Nadeau A....Muntoni F.	2008
27	Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. ( 17215366 )	Angelin A....Bernardi P.	2007
28	Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. ( 17537636 )	Peat R.A....LamandAc S.R.	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 )	Jimenez-Mallebrera C....Muntoni F.	2006
30	Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )	Mercuri E....Muntoni F.	2005
31	Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )	Reed U.C....Scaff M.	2005
32	Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. ( 15563506 )	Baker N.L....Lamande S.R.	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 )	Lucarini L....Chu M.L.	2005
34	Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )	Lampe A.K....Weiss R.B.	2005
35	Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. ( 15690374 )	Kirschner J....BAPnnemann C.G.	2005
36	[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )	Higuchi I.	2005
37	Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. ( 15229843 )	Brockington M....Muntoni F.	2004
38	Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. ( 15127309 )	Demir E....Guicheney P.	2004
39	New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. ( 12840783 )	Pan T.C....Chu M.L.	2003
40	Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. ( 11992252 )	Demir E....Guicheney P.	2002
41	Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. ( 12218063 )	Zhang R.Z....Chu M.L.	2002

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Genes for Ullrich Congenital Muscular Dystrophy 1

Genes related to Ullrich Congenital Muscular Dystrophy 1 (4 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	1726.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	16130093 20301676 21078917 (more) 20301468 19564581 16130093 16447767 18761340 17537636 15689448 16141002 18366090 19884007 12840783 15955946
2	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	1726.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	11381124 12218063 20301676 (more) 21078917 20301468 11506412 16075202 20106987 20729548 19564581 12218063 16447767 18761340 15563506 16075202 12402292 15689448 18366090 11506412 12297580 19884007 12840783 15955946 16141002
3	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	1726.01	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	11992252 20301676 21078917 (more) 20301468 16447767 18761340 15563506 15689448 18366090 19884007 12840783 15955946 16141002 15965965
4	COL12A1	Collagen Type XII Alpha 1 Chain	Protein Coding	364.88	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	16.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SMG1	SMG1, Nonsense Mediated MRNA Decay Associated PI3K Related Kinase	Protein Coding	16.07	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	UPF1	UPF1, RNA Helicase And ATPase	Protein Coding	15.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	PLOD3	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3	Protein Coding	15.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	LAMA2	Laminin Subunit Alpha 2	Protein Coding	15.1	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	FKBP14	FK506 Binding Protein 14	Protein Coding	14.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	CAPN3	Calpain 3	Protein Coding	14.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	LMNA	Lamin A/C	Protein Coding	14.5	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	BGN	Biglycan	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

Sources

Expression for Ullrich Congenital Muscular Dystrophy 1

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

Sources

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	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.07	CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
2	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.72	COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
3	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.63	COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
4	Focal Adhesion ³⁷ ¹ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.57	CAPN3 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
5	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.46	COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 PLOD3
6	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁴	12.06	CAPN3 LAMA2 LMNA
7	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.93	BGN CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
8	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.73	COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
9	miRNA targets in ECM and membrane receptors ¹	11.18	COL6A1 COL6A2 COL6A3
10	NCAM1 interactions ⁶⁶	10.82	COL6A1 COL6A2 COL6A3 COL6A5

Sources

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

Sources for Ullrich Congenital Muscular Dystrophy 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia