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 50 68
Ullrich Congenital Muscular Dystrophy 11 46 23 13 68 12 48
Ullrich Disease 11 46 23 52 68
Ullrich Scleroatonic Muscular Dystrophy 11 46 23 68
Scleroatonic Muscular Dystrophy 46 52 68 66
 
Ucmd 46 23 52 68
Congenital Muscular Dystrophy, Ullrich Type 52 25
Congenital Atonic Sclerotic Muscular Dystrophy 23
Late Onset Scleroatonic Familial Myopathy 46
Ucmd1 68

Characteristics:

Orphanet epidemiological data:

52
ullrich disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
ullrich congenital muscular dystrophy 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, variable expressivity


Classifications:



External Ids:

OMIM50 254090
Disease Ontology11 DOID:0050558
Orphanet52 ORPHA75840
ICD10 via Orphanet29 G71.2
MedGen35 C0410179
MeSH37 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 1

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NIH Rare Diseases:46 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 muscular dystrophy, and has symptoms including torticollis, torticollis and high palate. An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways are NCAM1 interactions and Protein digestion and absorption. Affiliated tissues include skeletal muscle, and related mouse phenotypes are skeleton and muscle.

UniProtKB/Swiss-Prot:68 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:69 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with... more...

Description from OMIM:50 254090

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

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

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

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 Dystrophy25 23

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7COL12A1, COL6A3, FBN1, LAMA2, LMNA, SEPN1
2MP:00053696.5CAPN3, COL12A1, COL6A1, COL6A3, FBN1, LAMA2
3MP:00053786.2CAPN3, COL12A1, COL6A2, COL6A3, FBN1, LAMA2

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:

68 (show all 12)
id Symbol AA change Variation ID SNP ID
1COL6A1p.Gly281ArgVAR_058217rs267606746
2COL6A1p.Gly284ArgVAR_058218rs121912938
3COL6A1p.Gly290ArgVAR_058219rs121912939
4COL6A2p.Gly283ArgVAR_058226rs267606748
5COL6A2p.Arg498HisVAR_058228rs267606749
6COL6A2p.Gly531ArgVAR_058230
7COL6A2p.Arg784HisVAR_058234rs75120695
8COL6A2p.Leu837ProVAR_058236
9COL6A2p.Arg876SerVAR_058238rs387906608
10COL6A3p.Arg1064GlnVAR_058249rs112638391
11COL6A3p.Arg1395GlnVAR_058251rs80272723
12COL6A3p.Asp1674AsnVAR_058255rs778940391

Clinvar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3COL6A3, IVS29, A-G, +5single nucleotide variantPathogenic
2COL6A3NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter)single nucleotide variantPathogenicrs121434554GRCh37Chr 2, 238290062: 238290062
3COL6A2COL6A2, 1-BP INS, 1151CinsertionPathogenic
4COL6A2COL6A2, IVS17AS, A-G, -2single nucleotide variantPathogenic
5COL6A2COL6A2, IVS23AS, G-A, -1single nucleotide variantPathogenic
6COL6A2COL6A2, 26-BP DEL, NT731deletionPathogenic
7COL6A2COL6A2, IVS12AS, A-G, -10single nucleotide variantPathogenic
8COL6A2NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg)single nucleotide variantPathogenicrs267606747GRCh37Chr 21, 47546058: 47546058
9COL6A2NM_001849.3(COL6A2): c.1493G> A (p.Arg498His)single nucleotide variantPathogenicrs267606749GRCh37Chr 21, 47541504: 47541504
10COL6A1NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg)single nucleotide variantPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
11COL6A1NM_001848.2(COL6A1): c.1003_1056del54single nucleotide variantPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
12COL6A1NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs)deletionPathogenicrs797044457GRCh37Chr 21, 47409050: 47409050
13COL6A1NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs)deletionPathogenicrs797044458GRCh38Chr 21, 45997703: 45997703
14COL6A1NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter)single nucleotide variantPathogenicrs121912937GRCh37Chr 21, 47421895: 47421895
15COL6A1NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg)single nucleotide variantPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
16COL6A1NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg)single nucleotide variantPathogenicrs267606746GRCh37Chr 21, 47409034: 47409034
17COL6A1NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg)single nucleotide variantPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
18COL6A1NM_001848.2(COL6A1): c.957+2T> Csingle nucleotide variantPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
19COL6A2NM_001849.3(COL6A2): c.801+1G> Asingle nucleotide variantPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
20COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)single nucleotide variantPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
21COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
22COL6A3NM_004369.3(COL6A3): c.6283-2A> Csingle nucleotide variantLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
23COL6A2NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys)single nucleotide variantPathogenicrs387906607GRCh37Chr 21, 47545432: 47545432
24COL6A2NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser)single nucleotide variantPathogenicrs387906608GRCh37Chr 21, 47552032: 47552032
25COL6A2NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del)deletionPathogenicrs398122821GRCh37Chr 21, 47545417: 47545422
26COL6A2NM_001849.3(COL6A2): c.1771-1G> Tsingle nucleotide variantPathogenicrs748035948GRCh38Chr 21, 46125265: 46125265
27COL6A2NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp)single nucleotide variantLikely pathogenicrs397515333GRCh37Chr 21, 47535787: 47535787
28COL6A1NM_001848.2(COL6A1): c.805-2A> Gsingle nucleotide variantPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
29COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)single nucleotide variantPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
30COL6A1NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg)single nucleotide variantLikely pathogenicrs398123643GRCh37Chr 21, 47409540: 47409540
31COL6A1NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu)single nucleotide variantLikely pathogenicrs398123644GRCh37Chr 21, 47409559: 47409559
32COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
33COL6A2NM_001849.3(COL6A2): c.1522-1G> Asingle nucleotide variantPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
34COL6A2NM_001849.3(COL6A2): c.855+2T> Gsingle nucleotide variantPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
35COL6A3NM_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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Pathways related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3COL6A1, COL6A2, COL6A3, COL6A5
29.0COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
38.9COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
4
Show member pathways
8.4CAPN3, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
5
Show member pathways
8.4COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, PLOD3
6
Show member pathways
8.4COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
7
Show member pathways
8.4COL6A1, COL6A2, COL6A3, COL6A5, FBN1, LAMA2
8
Show member pathways
7.9CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, FBN1
9
Show member pathways
7.9CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, FBN1
10
Show member pathways
7.1CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5

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
1collagen type VI trimerGO:000558910.4COL6A1, COL6A3
2collagen trimerGO:000558110.2COL6A2, COL6A3, COL6A5
3extracellular vesicleGO:190356110.0COL12A1, COL6A2, COL6A3
4sarcolemmaGO:00423839.7COL6A1, COL6A2, COL6A3, LAMA2
5proteinaceous extracellular matrixGO:00055789.1COL6A1, COL6A2, COL6A3, COL6A5, FBN1
6endoplasmic reticulum lumenGO:00057889.0COL12A1, COL6A1, COL6A2, COL6A3, FKBP14
7extracellular exosomeGO:00700627.9COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
8extracellular regionGO:00055767.8COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, FBN1
9extracellular matrixGO:00310127.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, FBN1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:007020810.4COL6A1, COL6A2
2endodermal cell differentiationGO:003598710.4COL12A1, COL6A1
3collagen fibril organizationGO:00301999.9COL12A1, PLOD3
4muscle organ developmentGO:00075179.6CAPN3, COL6A3, LAMA2
5collagen catabolic processGO:00305749.4COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
6IRE1-mediated unfolded protein responseGO:00364988.9FKBP14, LMNA
7extracellular matrix organizationGO:00301988.8COL6A1, COL6A2, COL6A3, FBN1, LAMA2
8cell adhesionGO:00071558.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055098.5CAPN3, FBN1, FKBP14, SEPN1

Sources for Ullrich Congenital Muscular Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet