MCID: ULL002
MIFTS: 44

Ullrich Congenital Muscular Dystrophy 1 malady

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 1

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Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 49 67
Ullrich Congenital Muscular Dystrophy 10 11 45 22 47 12 67
Ullrich Disease 10 45 22 51 67
Ullrich Scleroatonic Muscular Dystrophy 10 45 22 67
Scleroatonic Muscular Dystrophy 45 51 67 65
 
Ucmd 45 22 51 67
Congenital Muscular Dystrophy, Ullrich Type 51 24
Congenital Atonic Sclerotic Muscular Dystrophy 22
Late Onset Scleroatonic Familial Myopathy 45
Ucmd1 67

Characteristics:

Orphanet epidemiological data:

51
ullrich disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
ullrich congenital muscular dystrophy 1:
Onset and clinical course: variable expressivity, progressive, infantile onset
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 254090
Disease Ontology10 DOID:0050558
Orphanet51 75840
ICD10 via Orphanet28 G71.2
MedGen34 C0410179
MeSH36 D009136
UMLS65 C0410179

Summaries for Ullrich Congenital Muscular Dystrophy 1

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NIH Rare Diseases:45 Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. this condition is caused by mutations in the col6a1, col6a2, and col6a3 genes. ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. in rare cases, this condition may be inherited in an autosomal dominant pattern. last updated: 3/4/2014

MalaCards based summary: Ullrich Congenital Muscular Dystrophy 1, also known as ullrich congenital muscular dystrophy, is related to ullrich congenital muscular dystrophy 2 and ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, and has symptoms including facial palsy, feeding difficulties in infancy and mildly elevated creatine phosphokinase. An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A2 (Collagen Type VI Alpha 2), and among its related pathways are NCAM1 interactions and Protein digestion and absorption. Affiliated tissues include skeletal muscle, and related mouse phenotypes are growth/size/body region and muscle.

UniProtKB/Swiss-Prot:67 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:68 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with... more...

Description from OMIM:49 254090

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

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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 top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy 212.8
2ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
3meige syndrome10.6
4collagen vi related muscular dystrophy10.6
5collagen vi-related myopathy10.6
6choroiditis10.4
7periodontitis10.4
8endotheliitis10.4
9knobloch syndrome, type 110.3COL6A1, COL6A2
10wilson disease10.3
11pancreatic cancer10.3
12pityriasis rubra pilaris10.3
13hemangioma10.3
14joint disorders10.3
15leukemia10.3
16primary biliary cirrhosis10.3
17nasopharyngitis10.3
18pertussis10.3
19heart disease10.3
20urticaria pigmentosa10.3
21brain cancer10.3
22urticaria10.3
23epidermolysis bullosa10.3
24gingivitis10.3
25fibrosarcoma10.3
26periodontal disease10.3
27retinitis10.3
28pseudohermaphroditism10.3
29pancreatitis10.3
30retinal detachment10.3
31prolactinoma10.3
32cholesteatoma10.3
33esotropia10.3
34leydig cells hypoplasia10.3
35mercury poisoning10.3
36recessive dystrophic epidermolysis bullosa10.3
37weber syndrome10.3
38intellectual disability10.3
39juvenile nasopharyngeal angiofibroma10.3
40right aortic arch10.3
41dystonia 2710.2COL6A1, COL6A2, COL6A3
42congenital disorders of n-linked glycosylation pathway10.2COL6A1, COL6A2, COL6A3
43myasthenia gravis10.1COL6A1, COL6A2, COL6A3
44congenital fiber-type disproportion10.1COL6A3, SEPN1
45bone resorption disease10.1COL6A1, SEPN1
46aniridia10.1
47focal epilepsy10.1
48prosthetic joint infection10.1
49glycogen storage disease 0, muscle10.1CAPN3, LAMA2
50histiocytoma9.9COL6A1, COL6A2, COL6A3

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



Diseases related to ullrich congenital muscular dystrophy 1

Symptoms for Ullrich Congenital Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

254090

Clinical features from OMIM:

254090

HPO human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

(show all 32)
id Description Frequency HPO Source Accession
1 facial palsy HP:0010628
2 feeding difficulties in infancy HP:0008872
3 mildly elevated creatine phosphokinase HP:0008180
4 follicular hyperkeratosis HP:0007502
5 increased laxity of ankles HP:0006460
6 increased laxity of fingers HP:0006149
7 hyperextensibility at wrists HP:0005072
8 type 1 muscle fiber predominance HP:0003803
9 congenital muscular dystrophy HP:0003741
10 muscle fiber necrosis HP:0003713
11 proximal muscle weakness HP:0003701
12 generalized amyotrophy HP:0003700
13 increased variability in muscle fiber diameter HP:0003557
14 spinal rigidity HP:0003306
15 nocturnal hypoventilation HP:0002877
16 hip dislocation HP:0002827
17 kyphosis HP:0002808
18 recurrent lower respiratory tract infections HP:0002783
19 respiratory insufficiency due to muscle weakness HP:0002747
20 scoliosis HP:0002650
21 talipes equinovarus HP:0001762
22 slender build HP:0001533
23 failure to thrive HP:0001508
24 joint laxity HP:0001388
25 flexion contracture HP:0001371
26 neonatal hypotonia HP:0001319
27 motor delay HP:0001270
28 hyperhidrosis HP:0000975
29 torticollis HP:0000473
30 protruding ear HP:0000411
31 round face HP:0000311
32 high palate HP:0000218

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy 1

Genetic Tests for Ullrich Congenital Muscular Dystrophy 1

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Genetic tests related to Ullrich Congenital Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy22

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

33
Skeletal muscle

Animal Models for Ullrich Congenital Muscular Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053786.9CAPN3, COL12A1, COL6A2, COL6A3, LAMA2, LMNA
2MP:00053696.6CAPN3, COL12A1, COL6A1, COL6A3, LAMA2, LMNA

Publications for Ullrich Congenital Muscular Dystrophy 1

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Variations for Ullrich Congenital Muscular Dystrophy 1

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

67 (show all 12)
id Symbol AA change Variation ID SNP ID
1COL6A1p.Gly281ArgVAR_058217
2COL6A1p.Gly284ArgVAR_058218
3COL6A1p.Gly290ArgVAR_058219
4COL6A2p.Gly283ArgVAR_058226
5COL6A2p.Arg498HisVAR_058228
6COL6A2p.Gly531ArgVAR_058230
7COL6A2p.Arg784HisVAR_058234rs75120695
8COL6A2p.Leu837ProVAR_058236
9COL6A2p.Arg876SerVAR_058238
10COL6A3p.Arg1064GlnVAR_058249rs112638391
11COL6A3p.Arg1395GlnVAR_058251rs80272723
12COL6A3p.Asp1674AsnVAR_058255

Clinvar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

5 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys)single nucleotide variantLikely pathogenicrs146092501GRCh37Chr 2, 238280504: 238280504
2COL6A3COL6A3, IVS29, A-G, +5single nucleotide variantPathogenic
3COL6A3NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter)single nucleotide variantPathogenicrs121434554GRCh37Chr 2, 238290062: 238290062
4COL6A2COL6A2, 1-BP INS, 1151CinsertionPathogenic
5COL6A2COL6A2, IVS17AS, A-G, -2single nucleotide variantPathogenic
6COL6A2COL6A2, IVS23AS, G-A, -1single nucleotide variantPathogenic
7COL6A2COL6A2, 26-BP DEL, NT731deletionPathogenic
8COL6A2COL6A2, IVS12AS, A-G, -10single nucleotide variantPathogenic
9COL6A2NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg)single nucleotide variantPathogenicrs267606747GRCh37Chr 21, 47546058: 47546058
10COL6A2NM_001849.3(COL6A2): c.1493G> A (p.Arg498His)single nucleotide variantPathogenicrs267606749GRCh37Chr 21, 47541504: 47541504
11COL6A1NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg)single nucleotide variantPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
12COL6A1NM_001848.2(COL6A1): c.1003_1056del54single nucleotide variantPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
13COL6A1NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs)deletionPathogenicrs797044457GRCh37Chr 21, 47409050: 47409050
14COL6A1NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs)deletionPathogenicrs797044458GRCh38Chr 21, 45997703: 45997703
15COL6A1NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter)single nucleotide variantPathogenicrs121912937GRCh37Chr 21, 47421895: 47421895
16COL6A1NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg)single nucleotide variantPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
17COL6A1NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg)single nucleotide variantPathogenicrs267606746GRCh37Chr 21, 47409034: 47409034
18COL6A1NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg)single nucleotide variantPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
19COL6A1NM_001848.2(COL6A1): c.957+2T> Csingle nucleotide variantPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
20COL6A2NM_001849.3(COL6A2): c.801+1G> Asingle nucleotide variantPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
21COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)single nucleotide variantPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
22COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
23COL6A3NM_004369.3(COL6A3): c.6283-2A> Csingle nucleotide variantLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
24COL6A2NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys)single nucleotide variantPathogenicrs387906607GRCh37Chr 21, 47545432: 47545432
25COL6A2NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser)single nucleotide variantPathogenicrs387906608GRCh37Chr 21, 47552032: 47552032
26COL6A2NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del)deletionPathogenicrs398122821GRCh37Chr 21, 47545417: 47545422
27COL6A2COL6A2, IVS23AS, G-T, -1single nucleotide variantPathogenic
28COL6A2NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp)single nucleotide variantLikely pathogenicrs397515333GRCh37Chr 21, 47535787: 47535787
29COL6A1NM_001848.2(COL6A1): c.805-2A> Gsingle nucleotide variantPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
30COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)single nucleotide variantPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
31COL6A1NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg)single nucleotide variantLikely pathogenicrs398123643GRCh37Chr 21, 47409540: 47409540
32COL6A1NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu)single nucleotide variantLikely pathogenicrs398123644GRCh37Chr 21, 47409559: 47409559
33COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
34COL6A2NM_001849.3(COL6A2): c.1522-1G> Asingle nucleotide variantPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
35COL6A2NM_001849.3(COL6A2): c.855+2T> Gsingle nucleotide variantPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
36COL6A3NM_004369.3(COL6A3): c.6210+1G> Asingle nucleotide variantPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763

Expression for genes affiliated with Ullrich Congenital Muscular Dystrophy 1

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

Pathways for genes affiliated with Ullrich Congenital Muscular Dystrophy 1

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GO Terms for genes affiliated with Ullrich Congenital Muscular Dystrophy 1

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.8COL6A2, COL6A3
2extracellular vesicleGO:19035619.6COL12A1, COL6A2, COL6A3
3extracellular matrixGO:00310129.5COL12A1, COL6A2, COL6A5
4endoplasmic reticulum lumenGO:00057889.3COL6A1, COL6A2, COL6A3

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell migrationGO:00303349.6LAMA2, LMNA
2extracellular matrix disassemblyGO:00226179.0COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
3cell adhesionGO:00071558.2COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2

Sources for Ullrich Congenital Muscular Dystrophy 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet