UCMD1
MCID: ULL002
MIFTS: 44

Ullrich Congenital Muscular Dystrophy 1 (UCMD1) malady

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 1

Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 54 66 29
Ullrich Congenital Muscular Dystrophy 12 50 24 66 13 52 14
Ullrich Disease 12 50 24 56 66
Ullrich Scleroatonic Muscular Dystrophy 12 50 24 66
Scleroatonic Muscular Dystrophy 50 56 66 69
Ucmd 50 24 56 66
Congenital Muscular Dystrophy, Ullrich Type 56 29
Congenital Atonic Sclerotic Muscular Dystrophy 24
Late Onset Scleroatonic Familial Myopathy 50
Ucmd1 66

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy, ullrich type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
ullrich congenital muscular dystrophy 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 254090
Disease Ontology 12 DOID:0050558
Orphanet 56 ORPHA75840
ICD10 via Orphanet 34 G71.2
MedGen 40 C0410179
MeSH 42 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 1

NIH Rare Diseases : 50 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 collagen vi-related myopathy, and has symptoms including torticollis, joint laxity 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/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are growth/size/body region and muscle

UniProtKB/Swiss-Prot : 66 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 : 71 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with... more...

Description from OMIM: 254090

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

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



Diseases related to Ullrich Congenital Muscular Dystrophy 1

Symptoms & Phenotypes for Ullrich Congenital Muscular Dystrophy 1

Symptoms by clinical synopsis from OMIM:

254090

Clinical features from OMIM:

254090

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

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

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 CAPN3 COL12A1 COL6A2 COL6A3 FBN1 LAMA2
2 muscle MP:0005369 9.23 LMNA PLOD3 CAPN3 COL12A1 COL6A1 COL6A3

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Ullrich Congenital Muscular Dystrophy 1

Genetic Tests for Ullrich Congenital Muscular Dystrophy 1

Genetic tests related to Ullrich Congenital Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 1 29
2 Ullrich Congenital Muscular Dystrophy 29 24

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

39
Skeletal Muscle

Publications for Ullrich Congenital Muscular Dystrophy 1

Variations for Ullrich Congenital Muscular Dystrophy 1

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

66 (show all 11)
id 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 86)
id 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 COL6A2 COL6A2, 1-BP INS, 1151C insertion Pathogenic
4 COL6A2 COL6A2, IVS17AS, A-G, -2 single nucleotide variant Pathogenic
5 COL6A2 COL6A2, IVS23AS, G-A, -1 single nucleotide variant Pathogenic
6 COL6A2 COL6A2, 26-BP DEL, NT731 deletion Pathogenic
7 COL6A2 COL6A2, IVS12AS, A-G, -10 single nucleotide variant Pathogenic
8 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
9 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Pathogenic rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
10 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
11 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
12 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
13 COL6A1 NM_001848.2(COL6A1): c.857delC (p.Pro286Leufs) deletion Pathogenic rs797044457 GRCh37 Chromosome 21, 47409050: 47409050
14 COL6A1 NM_001848.2(COL6A1): c.1465delG (p.Ala489Profs) deletion Pathogenic rs797044458 GRCh38 Chromosome 21, 45997703: 45997703
15 COL6A1 NM_001848.2(COL6A1): c.1977C> G (p.Tyr659Ter) single nucleotide variant Pathogenic rs121912937 GRCh37 Chromosome 21, 47421895: 47421895
16 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
17 COL6A1 NM_001848.2(COL6A1): c.841G> A (p.Gly281Arg) single nucleotide variant Pathogenic rs267606746 GRCh37 Chromosome 21, 47409034: 47409034
18 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
19 COL6A2 NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser) single nucleotide variant Pathogenic rs387906608 GRCh37 Chromosome 21, 47552032: 47552032
20 COL6A2 NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del) deletion Pathogenic rs398122821 GRCh37 Chromosome 21, 47545417: 47545422
21 COL6A2 NM_001849.3(COL6A2): c.1771-1G> T single nucleotide variant Pathogenic rs748035948 GRCh38 Chromosome 21, 46125265: 46125265
22 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
23 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
24 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
25 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
26 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh37 Chromosome 21, 47409559: 47409559
27 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic rs398123645 GRCh37 Chromosome 21, 47541472: 47541472
28 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh37 Chromosome 21, 47542021: 47542021
29 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh37 Chromosome 21, 47535841: 47535841
30 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs398124119 GRCh37 Chromosome 2, 238303764: 238303764
31 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh37 Chromosome 2, 238269763: 238269763
32 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh37 Chromosome 2, 238268730: 238268730
33 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh37 Chromosome 21, 47409666: 47409666
34 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh37 Chromosome 21, 47410200: 47410200
35 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
36 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh37 Chromosome 2, 238268021: 238268021
37 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic rs794727715 GRCh37 Chromosome 21, 47533988: 47533988
38 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh37 Chromosome 21, 47535796: 47535796
39 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh37 Chromosome 21, 47535942: 47535942
40 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
41 COL6A2 NM_001849.3(COL6A2): c.2040dupT (p.Ile681Tyrfs) duplication Likely pathogenic rs886039905 GRCh37 Chromosome 21, 47545769: 47545769
42 COL6A3 NM_004369.3(COL6A3): c.6157-2A> C single nucleotide variant Pathogenic rs886041434 GRCh37 Chromosome 2, 238269819: 238269819
43 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
44 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh37 Chromosome 2, 238275820: 238275820
45 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
46 COL6A3 NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs) deletion Pathogenic rs886042447 GRCh37 Chromosome 2, 238280536: 238280536
47 COL6A1 NM_001848.2(COL6A1): c.1075_1076delGGinsAA (p.Gly359Asn) indel Likely pathogenic rs886042646 GRCh37 Chromosome 21, 47410911: 47410912
48 COL6A1 NM_001848.2(COL6A1): c.914G> A (p.Gly305Glu) single nucleotide variant Likely pathogenic rs886042684 GRCh37 Chromosome 21, 47409676: 47409676
49 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Likely pathogenic rs764556767 GRCh37 Chromosome 21, 47418339: 47418339
50 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh37 Chromosome 21, 47418348: 47418348

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 FBN1
2
Show member pathways
12.8 COL12A1 COL6A1 COL6A2 COL6A3 FBN1 LAMA2
3
Show member pathways
12.57 CAPN3 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
4
Show member pathways
12.46 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 PLOD3
5 12.3 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
6
Show member pathways
12.06 CAPN3 LAMA2 LMNA
7
Show member pathways
11.93 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
8
Show member pathways
11.61 COL6A1 COL6A2 COL6A3 COL6A5 FBN1 LAMA2
9 11.21 COL6A1 COL6A2 COL6A3
10 11.02 COL6A1 COL6A2 COL6A3 COL6A5

GO Terms for Ullrich Congenital Muscular Dystrophy 1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.93 COL12A1 COL6A1 COL6A2 COL6A3 FBN1 LAMA2
2 endoplasmic reticulum lumen GO:0005788 9.73 COL12A1 COL6A1 COL6A2 COL6A3 FBN1 FKBP14
3 sarcolemma GO:0042383 9.62 COL6A1 COL6A2 COL6A3 LAMA2
4 extracellular vesicle GO:1903561 9.58 COL12A1 COL6A2 COL6A3
5 collagen trimer GO:0005581 9.55 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
6 proteinaceous extracellular matrix GO:0005578 9.5 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 FBN1
7 collagen type VI trimer GO:0005589 9.37 COL6A1 COL6A3
8 extracellular matrix GO:0031012 9.23 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 FBN1
9 extracellular region GO:0005576 10.03 ANTXR2 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
10 extracellular exosome GO:0070062 10.02 COL12A1 COL6A1 COL6A2 COL6A3 FBN1 LAMA2

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

id 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 9.43 CAPN3 COL6A3 LAMA2
3 collagen fibril organization GO:0030199 9.4 COL12A1 PLOD3
4 endodermal cell differentiation GO:0035987 9.37 COL12A1 COL6A1
5 extracellular matrix organization GO:0030198 9.35 COL6A1 COL6A2 COL6A3 FBN1 LAMA2
6 protein heterotrimerization GO:0070208 9.32 COL6A1 COL6A2
7 collagen catabolic process GO:0030574 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

Sources for Ullrich Congenital Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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