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

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Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 52 70 27
Ullrich Congenital Muscular Dystrophy 11 48 24 70 12 50 13
Ullrich Disease 11 48 24 54 70
Ullrich Scleroatonic Muscular Dystrophy 11 48 24 70
Scleroatonic Muscular Dystrophy 48 54 70 68
 
Ucmd 48 24 54 70
Congenital Muscular Dystrophy, Ullrich Type 54 27
Congenital Atonic Sclerotic Muscular Dystrophy 24
Late Onset Scleroatonic Familial Myopathy 48
Ucmd1 70

Characteristics:

Orphanet epidemiological data:

54
ullrich disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
ullrich congenital muscular dystrophy 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, variable expressivity

Classifications:



External Ids:

OMIM52 254090
Disease Ontology11 DOID:0050558
Orphanet54 ORPHA75840
ICD10 via Orphanet31 G71.2
MedGen37 C0410179
MeSH39 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 1

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NIH Rare Diseases:48 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, 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 miRNA targets in ECM and membrane receptors and NCAM1 interactions. Affiliated tissues include skeletal muscle, and related mouse phenotypes are growth/size/body region and muscle.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Ullrich Congenital Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

254090

Clinical features from OMIM:

254090

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 round face64 HP:0000311
3 protruding ear64 HP:0000411
4 torticollis64 HP:0000473
5 hyperhidrosis64 HP:0000975
6 motor delay64 HP:0001270
7 neonatal hypotonia64 HP:0001319
8 flexion contracture64 HP:0001371
9 joint laxity64 HP:0001388
10 failure to thrive64 HP:0001508
11 slender build64 HP:0001533
12 talipes equinovarus64 HP:0001762
13 scoliosis64 HP:0002650
14 respiratory insufficiency due to muscle weakness64 HP:0002747
15 recurrent lower respiratory tract infections64 HP:0002783
16 kyphosis64 HP:0002808
17 hip dislocation64 HP:0002827
18 nocturnal hypoventilation64 HP:0002877
19 spinal rigidity64 HP:0003306
20 increased variability in muscle fiber diameter64 HP:0003557
21 generalized amyotrophy64 HP:0003700
22 proximal muscle weakness64 HP:0003701
23 muscle fiber necrosis64 HP:0003713
24 congenital muscular dystrophy64 HP:0003741
25 type 1 muscle fiber predominance64 HP:0003803
26 hyperextensibility at wrists64 HP:0005072
27 increased laxity of fingers64 HP:0006149
28 increased laxity of ankles64 HP:0006460
29 follicular hyperkeratosis64 HP:0007502
30 mildly elevated creatine phosphokinase64 HP:0008180
31 feeding difficulties in infancy64 HP:0008872
32 facial palsy64 HP:0010628

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0CAPN3, COL12A1, COL6A2, COL6A3, FBN1, LAMA2
2MP:00053697.3CAPN3, COL12A1, COL6A1, COL6A3, FBN1, LAMA2

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 Dystrophy 127
2 Ullrich Congenital Muscular Dystrophy27 24

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

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

36
Skeletal muscle

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:

70 (show all 11)
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.Arg1395GlnVAR_058251rs80272723
11COL6A3p.Asp1674AsnVAR_058255rs778940391

Clinvar genetic disease variations for Ullrich Congenital Muscular Dystrophy 1:

5 (show all 85)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3COL6A3, IVS29, A-G, +5SNVPathogenic
2COL6A3NM_ 004369.3(COL6A3): c.1393C> T (p.Arg465Ter)SNVPathogenicrs121434554GRCh37Chr 2, 238290062: 238290062
3COL6A2COL6A2, 1-BP INS, 1151CinsertionPathogenic
4COL6A2COL6A2, IVS17AS, A-G, -2SNVPathogenic
5COL6A2COL6A2, IVS23AS, G-A, -1SNVPathogenic
6COL6A2COL6A2, 26-BP DEL, NT731deletionPathogenic
7COL6A2COL6A2, IVS12AS, A-G, -10SNVPathogenic
8COL6A2NM_ 001849.3(COL6A2): c.2329T> C (p.Cys777Arg)SNVPathogenicrs267606747GRCh37Chr 21, 47546058: 47546058
9COL6A2NM_ 001849.3(COL6A2): c.1493G> A (p.Arg498His)SNVPathogenicrs267606749GRCh37Chr 21, 47541504: 47541504
10COL6A1NM_ 001848.2(COL6A1): c.362A> G (p.Lys121Arg)SNVPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
11COL6A1NM_ 001848.2(COL6A1): c.1003_ 1056del54SNVPathogenicrs398123631GRCh37Chr 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)SNVPathogenicrs121912937GRCh37Chr 21, 47421895: 47421895
15COL6A1NM_ 001848.2(COL6A1): c.850G> A (p.Gly284Arg)SNVPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
16COL6A1NM_ 001848.2(COL6A1): c.841G> A (p.Gly281Arg)SNVPathogenicrs267606746GRCh37Chr 21, 47409034: 47409034
17COL6A1NM_ 001848.2(COL6A1): c.904G> C (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
18COL6A1NM_ 001848.2(COL6A1): c.957+2T> CSNVPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
19COL6A3NM_ 004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)SNVPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
20COL6A3NM_ 004369.3(COL6A3): c.6293G> T (p.Gly2098Val)SNVPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
21COL6A2NM_ 001849.3(COL6A2): c.801+1G> ASNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
22COL6A2NM_ 001849.3(COL6A2): c.812G> A (p.Gly271Asp)SNVPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
23COL6A2NM_ 001849.3(COL6A2): c.875G> T (p.Gly292Val)SNVPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
24COL6A3NM_ 004369.3(COL6A3): c.6283-2A> CSNVLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
25COL6A2NM_ 001849.3(COL6A2): c.2040dupT (p.Ile681Tyrfs)duplicationLikely pathogenicrs886039905GRCh37Chr 21, 47545769: 47545769
26COL6A3NM_ 004369.3(COL6A3): c.6157-2A> CSNVPathogenicrs886041434GRCh37Chr 2, 238269819: 238269819
27COL6A1NM_ 001848.2(COL6A1): c.931-1G> ASNVPathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
28COL6A3NM_ 004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter)SNVPathogenicrs886042402GRCh37Chr 2, 238275820: 238275820
29COL6A1NM_ 001848.2(COL6A1): c.1022G> T (p.Gly341Val)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
30COL6A3NM_ 004369.3(COL6A3): c.4124delA (p.Gln1375Argfs)deletionPathogenicrs886042447GRCh37Chr 2, 238280536: 238280536
31COL6A1NM_ 001848.2(COL6A1): c.1075_ 1076delGGinsAA (p.Gly359Asn)indelLikely pathogenicrs886042646GRCh37Chr 21, 47410911: 47410912
32COL6A1NM_ 001848.2(COL6A1): c.914G> A (p.Gly305Glu)SNVLikely pathogenicrs886042684GRCh37Chr 21, 47409676: 47409676
33COL6A1NM_ 001848.2(COL6A1): c.1603G> A (p.Gly535Arg)SNVLikely pathogenicrs764556767GRCh37Chr 21, 47418339: 47418339
34COL6A1NM_ 001848.2(COL6A1): c.1611+1G> ASNVPathogenicrs886042748GRCh37Chr 21, 47418348: 47418348
35COL6A1NM_ 001848.2(COL6A1): c.805G> A (p.Gly269Arg)SNVLikely pathogenicrs886042856GRCh37Chr 21, 47408998: 47408998
36COL6A2NM_ 001849.3(COL6A2): c.857G> T (p.Gly286Val)SNVLikely pathogenicrs727502827GRCh37Chr 21, 47535924: 47535924
37COL6A3NM_ 004369.3(COL6A3): c.6354+1G> TSNVPathogenicrs886042883GRCh37Chr 2, 238267848: 238267848
38COL6A1NM_ 001848.2(COL6A1): c.930+1G> ASNVPathogenicrs886042902GRCh37Chr 21, 47409693: 47409693
39COL6A2NM_ 001849.3(COL6A2): c.785G> A (p.Gly262Asp)SNVPathogenicrs886042943GRCh37Chr 21, 47533971: 47533971
40COL6A3NM_ 004369.3(COL6A3): c.6193G> C (p.Gly2065Arg)SNVLikely pathogenicrs397515332GRCh37Chr 2, 238269781: 238269781
41COL6A1NM_ 001848.2(COL6A1): c.833G> A (p.Gly278Glu)SNVLikely pathogenicrs886043106GRCh37Chr 21, 47409026: 47409026
42COL6A3NM_ 004369.3(COL6A3): c.7024C> T (p.Arg2342Ter)SNVPathogenicrs886043113GRCh37Chr 2, 238256455: 238256455
43COL6A1NM_ 001848.2(COL6A1): c.928_ 930delAAG (p.Lys310del)deletionPathogenicrs886043114GRCh37Chr 21, 47409690: 47409692
44COL6A1NM_ 001848.2(COL6A1): c.315_ 349del35 (p.Met106Glyfs)deletionPathogenicrs886043147GRCh37Chr 21, 47404270: 47404304
45COL6A2NM_ 001849.3(COL6A2): c.2312dupA (p.Asn771Lysfs)duplicationPathogenicrs886043164GRCh37Chr 21, 47546041: 47546041
46COL6A3NM_ 004369.3(COL6A3): c.6354+1G> ASNVLikely pathogenicrs886042883GRCh37Chr 2, 238267848: 238267848
47COL6A2NM_ 001849.3(COL6A2): c.865G> T (p.Gly289Cys)SNVPathogenicrs886043270GRCh37Chr 21, 47535932: 47535932
48COL6A1NM_ 001848.2(COL6A1): c.1039_ 1052delGGCTCGCCCGGGTT (p.Gly347Terfs)deletionPathogenicrs886043291GRCh37Chr 21, 47410723: 47410736
49COL6A1NM_ 001848.2(COL6A1): c.1021G> T (p.Gly341Cys)SNVPathogenicrs886043321GRCh37Chr 21, 47410705: 47410705
50COL6A1NM_ 001848.2(COL6A1): c.1003-1G> ASNVPathogenicrs886043330GRCh37Chr 21, 47410686: 47410686
51COL6A2NM_ 001849.3(COL6A2): c.801+1G> TSNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
52COL6A1NM_ 001848.2(COL6A1): c.788G> A (p.Gly263Asp)SNVLikely pathogenicrs886043351GRCh37Chr 21, 47407552: 47407552
53COL6A1NM_ 001848.2(COL6A1): c.782_ 789delTCCGGGGC (p.Leu261Argfs)deletionPathogenicrs886043354GRCh37Chr 21, 47407546: 47407553
54COL6A3NM_ 004369.3(COL6A3): c.761delG (p.Gly254Glufs)deletionPathogenicrs780921503GRCh37Chr 2, 238296776: 238296776
55COL6A3NM_ 004369.3(COL6A3): c.7542delC (p.Phe2515Serfs)deletionPathogenicrs886043519GRCh38Chr 2, 237344476: 237344476
56COL6A1NM_ 001848.2(COL6A1): c.1666G> A (p.Gly556Arg)SNVLikely pathogenicrs886043521GRCh37Chr 21, 47418865: 47418865
57COL6A2NM_ 001849.3(COL6A2): c.866G> A (p.Gly289Asp)SNVLikely pathogenicrs886043554GRCh37Chr 21, 47535933: 47535933
58COL6A3NM_ 004369.3(COL6A3): c.6890G> C (p.Gly2297Ala)SNVLikely pathogenicrs886043576GRCh38Chr 2, 237348653: 237348653
59COL6A1NM_ 001848.2(COL6A1): c.904G> A (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
60COL6A1NM_ 001848.2(COL6A1): c.1002+1G> TSNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
61COL6A3NM_ 004369.3(COL6A3): c.6212G> A (p.Gly2071Asp)SNVLikely pathogenicrs886043737GRCh37Chr 2, 238268801: 238268801
62COL6A1NM_ 001848.2(COL6A1): c.1002+1G> ASNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
63COL6A2NM_ 001849.3(COL6A2): c.1053+2delTdeletionPathogenicrs886044140GRCh37Chr 21, 47537369: 47537369
64COL6A1NM_ 001848.2(COL6A1): c.932G> A (p.Gly311Asp)SNVPathogenicrs886044231GRCh37Chr 21, 47410173: 47410173
65COL6A3NM_ 004369.3(COL6A3): c.6220G> A (p.Gly2074Ser)SNVPathogenicrs886044252GRCh37Chr 2, 238268793: 238268793
66COL6A2NM_ 001849.3(COL6A2): c.2284_ 2285delAT (p.Met762Valfs)deletionPathogenicrs778129335GRCh37Chr 21, 47546013: 47546014
67COL6A2NM_ 001849.3(COL6A2): c.856-2A> CSNVPathogenicrs886044466GRCh37Chr 21, 47535921: 47535921
68COL6A2NM_ 001849.3(COL6A2): c.1396-11_ 1396-2delCTTTCTTCCAdeletionPathogenicrs886044484GRCh37Chr 21, 47540964: 47540973
69COL6A1NM_ 001848.2(COL6A1): c.957+1G> ASNVPathogenicrs886044535GRCh37Chr 21, 47410199: 47410199
70COL6A2NM_ 001849.3(COL6A2): c.1870G> A (p.Glu624Lys)SNVPathogenicrs387906607GRCh37Chr 21, 47545432: 47545432
71COL6A2NM_ 001849.3(COL6A2): c.2626C> A (p.Arg876Ser)SNVPathogenicrs387906608GRCh37Chr 21, 47552032: 47552032
72COL6A2NM_ 001849.3(COL6A2): c.1855_ 1860delGTCATC (p.Val619_ Ile620del)deletionPathogenicrs398122821GRCh37Chr 21, 47545417: 47545422
73COL6A2NM_ 001849.3(COL6A2): c.1771-1G> TSNVPathogenicrs748035948GRCh38Chr 21, 46125265: 46125265
74COL6A3NM_ 004369.3(COL6A3): c.7669-2delAdeletionLikely pathogenicrs764193290GRCh38Chr 2, 237342163: 237342163
75COL6A2NM_ 001849.3(COL6A2): c.803G> A (p.Gly268Asp)SNVLikely pathogenicrs397515333GRCh37Chr 21, 47535787: 47535787
76COL6A1NM_ 001848.2(COL6A1): c.805-2A> GSNVPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
77COL6A1NM_ 001848.2(COL6A1): c.868G> A (p.Gly290Arg)SNVPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
78COL6A1NM_ 001848.2(COL6A1): c.877G> A (p.Gly293Arg)SNVLikely pathogenicrs398123643GRCh37Chr 21, 47409540: 47409540
79COL6A1NM_ 001848.2(COL6A1): c.896G> A (p.Gly299Glu)SNVLikely pathogenicrs398123644GRCh37Chr 21, 47409559: 47409559
80COL6A2NM_ 001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
81COL6A2NM_ 001849.3(COL6A2): c.1522-1G> ASNVPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
82COL6A2NM_ 001849.3(COL6A2): c.855+2T> GSNVPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
83COL6A3NM_ 004369.3(COL6A3): c.175C> T (p.Arg59Ter)SNVPathogenicrs398124119GRCh37Chr 2, 238303764: 238303764
84COL6A3NM_ 004369.3(COL6A3): c.6210+1G> ASNVPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763
85COL6A3NM_ 004369.3(COL6A3): c.6282+1G> ASNVPathogenicrs398124128GRCh37Chr 2, 238268730: 238268730

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
19.7COL6A1, COL6A2, COL6A3
29.4COL6A1, COL6A2, COL6A3, COL6A5
3
Show member pathways
9.1CAPN3, LAMA2, LMNA
49.0COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
5
Show member pathways
8.7COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, PLOD3
6
Show member pathways
8.5CAPN3, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
7
Show member pathways
8.4COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
8
Show member pathways
8.4COL6A1, COL6A2, COL6A3, COL6A5, FBN1, LAMA2
9
Show member pathways
7.9CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, FBN1
10
Show member pathways
7.3CAPN3, 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:000558910.7COL6A1, COL6A3
2extracellular vesicleGO:190356110.3COL12A1, COL6A2, COL6A3
3collagen trimerGO:00055819.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
4sarcolemmaGO:00423839.3COL6A1, COL6A2, COL6A3, LAMA2
5endoplasmic reticulum lumenGO:00057889.1COL12A1, COL6A1, COL6A2, COL6A3, FBN1, FKBP14
6extracellular spaceGO:00056159.0COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
7extracellular exosomeGO:00700628.8COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
8proteinaceous extracellular matrixGO:00055788.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, FBN1
9extracellular matrixGO:00310128.3COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, FBN1
10extracellular regionGO:00055768.0ANTXR2, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.5COL12A1, COL6A1
2collagen fibril organizationGO:003019910.5COL12A1, PLOD3
3protein heterotrimerizationGO:007020810.0COL6A1, COL6A2
4collagen catabolic processGO:00305749.7COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
5muscle organ developmentGO:00075179.6CAPN3, COL6A3, LAMA2
6cell adhesionGO:00071559.3COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
7extracellular matrix organizationGO:00301989.2COL6A1, COL6A2, COL6A3, FBN1, LAMA2

Sources for Ullrich Congenital Muscular Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet