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

About this section

Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 1:

Name: Ullrich Congenital Muscular Dystrophy 1 51 69 26
Ullrich Congenital Muscular Dystrophy 11 47 24 69 12 49 13
Ullrich Disease 11 47 24 53 69
Ullrich Scleroatonic Muscular Dystrophy 11 47 24 69
Scleroatonic Muscular Dystrophy 47 53 69 67
 
Ucmd 47 24 53 69
Congenital Atonic Sclerotic Muscular Dystrophy 24
Congenital Muscular Dystrophy, Ullrich Type 53
Late Onset Scleroatonic Familial Myopathy 47
Ucmd1 69

Characteristics:

Orphanet epidemiological data:

53
ullrich disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
ullrich congenital muscular dystrophy 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, variable expressivity

Classifications:



External Ids:

OMIM51 254090
Disease Ontology11 DOID:0050558
Orphanet53 ORPHA75840
ICD10 via Orphanet30 G71.2
MedGen36 C0410179
MeSH38 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 1

About this section
NIH Rare Diseases:47 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 high palate, round face and protruding ear. An important gene associated with Ullrich Congenital Muscular Dystrophy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), 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:69 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:70 Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with... more...

Description from OMIM:51 254090

Related Diseases for Ullrich Congenital Muscular Dystrophy 1

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

254090

Clinical features from OMIM:

254090

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

 63 (show all 32)
id Description HPO Frequency HPO Source Accession
1 high palate63 HP:0000218
2 round face63 HP:0000311
3 protruding ear63 HP:0000411
4 torticollis63 HP:0000473
5 hyperhidrosis63 HP:0000975
6 motor delay63 HP:0001270
7 neonatal hypotonia63 HP:0001319
8 flexion contracture63 HP:0001371
9 joint laxity63 HP:0001388
10 failure to thrive63 HP:0001508
11 slender build63 HP:0001533
12 talipes equinovarus63 HP:0001762
13 scoliosis63 HP:0002650
14 respiratory insufficiency due to muscle weakness63 HP:0002747
15 recurrent lower respiratory tract infections63 HP:0002783
16 kyphosis63 HP:0002808
17 hip dislocation63 HP:0002827
18 nocturnal hypoventilation63 HP:0002877
19 spinal rigidity63 HP:0003306
20 increased variability in muscle fiber diameter63 HP:0003557
21 generalized amyotrophy63 HP:0003700
22 proximal muscle weakness63 HP:0003701
23 muscle fiber necrosis63 HP:0003713
24 congenital muscular dystrophy63 HP:0003741
25 type 1 muscle fiber predominance63 HP:0003803
26 hyperextensibility at wrists63 HP:0005072
27 increased laxity of fingers63 HP:0006149
28 increased laxity of ankles63 HP:0006460
29 follicular hyperkeratosis63 HP:0007502
30 mildly elevated creatine phosphokinase63 HP:0008180
31 feeding difficulties in infancy63 HP:0008872
32 facial palsy63 HP:0010628

UMLS symptoms related to Ullrich Congenital Muscular Dystrophy 1:


torticollis

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 1

About this section

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

About this section

Genetic tests related to Ullrich Congenital Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 126
2 Ullrich Congenital Muscular Dystrophy24

Anatomical Context for Ullrich Congenital Muscular Dystrophy 1

About this section

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

35
Skeletal muscle

Animal Models for Ullrich Congenital Muscular Dystrophy 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Ullrich Congenital Muscular Dystrophy 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1CAPN3, COL12A1, COL6A2, COL6A3, FBN1, LAMA2
2MP:00053697.4CAPN3, COL12A1, COL6A1, COL6A3, FBN1, LAMA2

Publications for Ullrich Congenital Muscular Dystrophy 1

About this section

Variations for Ullrich Congenital Muscular Dystrophy 1

About this section

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

69 (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 83)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3COL6A3, IVS29, A-G, +5SNVPathogenicChr na, -1: -1
2COL6A3NM_004369.3(COL6A3): c.1393C> T (p.Arg465Ter)SNVPathogenicrs121434554GRCh37Chr 2, 238290062: 238290062
3COL6A2COL6A2, 1-BP INS, 1151CinsertionPathogenicChr na, -1: -1
4COL6A2COL6A2, IVS17AS, A-G, -2SNVPathogenicChr na, -1: -1
5COL6A2COL6A2, IVS23AS, G-A, -1SNVPathogenicChr na, -1: -1
6COL6A2COL6A2, 26-BP DEL, NT731deletionPathogenicChr na, -1: -1
7COL6A2COL6A2, IVS12AS, A-G, -10SNVPathogenicChr na, -1: -1
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
19COL6A1NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu)SNVPathogenicrs794727121GRCh37Chr 21, 47410697: 47410697
20COL6A3NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)SNVPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
21COL6A3NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val)SNVPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
22COL6A2NM_001849.3(COL6A2): c.801+1G> ASNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
23COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)SNVPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
24COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)SNVPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
25COL6A3NM_004369.3(COL6A3): c.6283-2A> CSNVLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
26COL6A1NM_001848.2(COL6A1): c.1425delA (p.Gly476Alafs)deletionLikely pathogenic, Pathogenicrs878854398GRCh38Chr 21, 45997447: 45997447
27COL6A2NM_001849.3(COL6A2): c.2040dupT (p.Ile681Tyrfs)duplicationLikely pathogenicrs886039905GRCh37Chr 21, 47545769: 47545769
28COL6A3NM_004369.3(COL6A3): c.6157-2A> CSNVPathogenicrs886041434GRCh37Chr 2, 238269819: 238269819
29COL6A1NM_001848.2(COL6A1): c.931-1G> ASNVPathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
30COL6A3NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter)SNVPathogenicrs886042402GRCh37Chr 2, 238275820: 238275820
31COL6A1NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
32COL6A3NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs)deletionPathogenicrs886042447GRCh37Chr 2, 238280536: 238280536
33COL6A1NM_001848.2(COL6A1): c.1075_1076delGGinsAA (p.Gly359Asn)indelLikely pathogenicrs886042646GRCh37Chr 21, 47410911: 47410912
34COL6A1NM_001848.2(COL6A1): c.914G> A (p.Gly305Glu)SNVLikely pathogenicrs886042684GRCh37Chr 21, 47409676: 47409676
35COL6A1NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg)SNVLikely pathogenicrs764556767GRCh37Chr 21, 47418339: 47418339
36COL6A1NM_001848.2(COL6A1): c.1611+1G> ASNVPathogenicrs886042748GRCh37Chr 21, 47418348: 47418348
37COL6A1NM_001848.2(COL6A1): c.805G> A (p.Gly269Arg)SNVLikely pathogenicrs886042856GRCh37Chr 21, 47408998: 47408998
38COL6A2NM_001849.3(COL6A2): c.857G> T (p.Gly286Val)SNVLikely pathogenicrs727502827GRCh37Chr 21, 47535924: 47535924
39COL6A3NM_004369.3(COL6A3): c.6354+1G> TSNVPathogenicrs886042883GRCh37Chr 2, 238267848: 238267848
40COL6A1NM_001848.2(COL6A1): c.930+1G> ASNVPathogenicrs886042902GRCh37Chr 21, 47409693: 47409693
41COL6A2NM_001849.3(COL6A2): c.785G> A (p.Gly262Asp)SNVPathogenicrs886042943GRCh37Chr 21, 47533971: 47533971
42COL6A3NM_004369.3(COL6A3): c.6193G> C (p.Gly2065Arg)SNVLikely pathogenicrs397515332GRCh37Chr 2, 238269781: 238269781
43COL6A1NM_001848.2(COL6A1): c.833G> A (p.Gly278Glu)SNVLikely pathogenicrs886043106GRCh37Chr 21, 47409026: 47409026
44COL6A3NM_004369.3(COL6A3): c.7024C> T (p.Arg2342Ter)SNVPathogenicrs886043113GRCh37Chr 2, 238256455: 238256455
45COL6A1NM_001848.2(COL6A1): c.928_930delAAG (p.Lys310del)deletionPathogenicrs886043114GRCh37Chr 21, 47409690: 47409692
46COL6A1NM_001848.2(COL6A1): c.315_349del35 (p.Met106Glyfs)deletionPathogenicrs886043147GRCh37Chr 21, 47404270: 47404304
47COL6A2NM_001849.3(COL6A2): c.2312dupA (p.Asn771Lysfs)duplicationPathogenicrs886043164GRCh37Chr 21, 47546041: 47546041
48COL6A3NM_004369.3(COL6A3): c.6354+1G> ASNVLikely pathogenicrs886042883GRCh37Chr 2, 238267848: 238267848
49COL6A2NM_001849.3(COL6A2): c.865G> T (p.Gly289Cys)SNVPathogenicrs886043270GRCh37Chr 21, 47535932: 47535932
50COL6A1NM_001848.2(COL6A1): c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs)deletionPathogenicrs886043291GRCh37Chr 21, 47410723: 47410736
51COL6A1NM_001848.2(COL6A1): c.1021G> T (p.Gly341Cys)SNVPathogenicrs886043321GRCh37Chr 21, 47410705: 47410705
52COL6A1NM_001848.2(COL6A1): c.1003-1G> ASNVPathogenicrs886043330GRCh37Chr 21, 47410686: 47410686
53COL6A2NM_001849.3(COL6A2): c.801+1G> TSNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
54COL6A1NM_001848.2(COL6A1): c.788G> A (p.Gly263Asp)SNVLikely pathogenicrs886043351GRCh37Chr 21, 47407552: 47407552
55COL6A1NM_001848.2(COL6A1): c.782_789delTCCGGGGC (p.Leu261Argfs)deletionPathogenicrs886043354GRCh37Chr 21, 47407546: 47407553
56COL6A3NM_004369.3(COL6A3): c.761delG (p.Gly254Glufs)deletionPathogenicrs780921503GRCh37Chr 2, 238296776: 238296776
57COL6A3NM_004369.3(COL6A3): c.7542delC (p.Phe2515Serfs)deletionPathogenicrs886043519GRCh37Chr 2, 238253119: 238253119
58COL6A1NM_001848.2(COL6A1): c.1666G> A (p.Gly556Arg)SNVLikely pathogenicrs886043521GRCh37Chr 21, 47418865: 47418865
59COL6A2NM_001849.3(COL6A2): c.866G> A (p.Gly289Asp)SNVLikely pathogenicrs886043554GRCh37Chr 21, 47535933: 47535933
60COL6A3NM_004369.3(COL6A3): c.6890G> C (p.Gly2297Ala)SNVLikely pathogenicrs886043576GRCh37Chr 2, 238257296: 238257296
61COL6A1NM_001848.2(COL6A1): c.904G> A (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
62COL6A1NM_001848.2(COL6A1): c.1002+1G> TSNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
63COL6A3NM_004369.3(COL6A3): c.6212G> A (p.Gly2071Asp)SNVLikely pathogenicrs886043737GRCh37Chr 2, 238268801: 238268801
64COL6A1NM_001848.2(COL6A1): c.1002+1G> ASNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
65COL6A2NM_001849.3(COL6A2): c.1053+2delTdeletionPathogenicrs886044140GRCh37Chr 21, 47537369: 47537369
66COL6A1NM_001848.2(COL6A1): c.932G> A (p.Gly311Asp)SNVPathogenicrs886044231GRCh37Chr 21, 47410173: 47410173
67COL6A3NM_004369.3(COL6A3): c.6220G> A (p.Gly2074Ser)SNVPathogenicrs886044252GRCh37Chr 2, 238268793: 238268793
68COL6A2NM_001849.3(COL6A2): c.2284_2285delAT (p.Met762Valfs)deletionPathogenicrs778129335GRCh37Chr 21, 47546013: 47546014
69COL6A2NM_001849.3(COL6A2): c.856-2A> CSNVPathogenicrs886044466GRCh37Chr 21, 47535921: 47535921
70COL6A2NM_001849.3(COL6A2): c.1396-11_1396-2delCTTTCTTCCAdeletionPathogenicrs886044484GRCh37Chr 21, 47540964: 47540973
71COL6A1NM_001848.2(COL6A1): c.957+1G> ASNVPathogenicrs886044535GRCh37Chr 21, 47410199: 47410199
72COL6A2NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys)SNVPathogenicrs387906607GRCh37Chr 21, 47545432: 47545432
73COL6A2NM_001849.3(COL6A2): c.2626C> A (p.Arg876Ser)SNVPathogenicrs387906608GRCh37Chr 21, 47552032: 47552032
74COL6A2NM_001849.3(COL6A2): c.1855_1860delGTCATC (p.Val619_Ile620del)deletionPathogenicrs398122821GRCh37Chr 21, 47545417: 47545422
75COL6A2NM_001849.3(COL6A2): c.1771-1G> TSNVPathogenicrs748035948GRCh38Chr 21, 46125265: 46125265
76COL6A1NM_001848.2(COL6A1): c.805-2A> GSNVPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
77COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)SNVPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
78COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
79COL6A2NM_001849.3(COL6A2): c.1522-1G> ASNVPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
80COL6A2NM_001849.3(COL6A2): c.855+2T> GSNVPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
81COL6A3NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter)SNVPathogenicrs398124119GRCh37Chr 2, 238303764: 238303764
82COL6A3NM_004369.3(COL6A3): c.6210+1G> ASNVPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763
83COL6A3NM_004369.3(COL6A3): c.6282+1G> ASNVPathogenicrs398124128GRCh37Chr 2, 238268730: 238268730

Expression for genes affiliated with Ullrich Congenital Muscular Dystrophy 1

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

Pathways for genes affiliated with Ullrich Congenital Muscular Dystrophy 1

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.4COL6A1, COL6A2, COL6A3, COL6A5
29.0COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
39.0COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
4
Show member pathways
8.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, PLOD3
5
Show member pathways
8.6CAPN3, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
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
8.0CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, FBN1
9
Show member pathways
8.0CAPN3, 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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type VI trimerGO:000558910.5COL6A1, COL6A3
2collagen trimerGO:000558110.2COL6A2, COL6A3, COL6A5
3extracellular vesicleGO:190356110.1COL12A1, COL6A2, COL6A3
4sarcolemmaGO:00423839.6COL6A1, COL6A2, COL6A3, LAMA2
5endoplasmic reticulum lumenGO:00057889.3COL12A1, COL6A1, COL6A2, COL6A3, FKBP14
6proteinaceous extracellular matrixGO:00055789.0COL6A1, COL6A2, COL6A3, COL6A5, FBN1
7extracellular exosomeGO:00700628.0COL12A1, COL6A1, COL6A2, COL6A3, FBN1, LAMA2
8extracellular matrixGO:00310127.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, FBN1
9extracellular regionGO:00055767.3ANTXR2, 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
1protein heterotrimerizationGO:007020810.4COL6A1, COL6A2
2endodermal cell differentiationGO:003598710.4COL12A1, COL6A1
3collagen fibril organizationGO:00301999.9COL12A1, PLOD3
4muscle organ developmentGO:00075179.5CAPN3, COL6A3, LAMA2
5collagen catabolic processGO:00305749.4COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
6extracellular matrix organizationGO:00301988.7COL6A1, COL6A2, COL6A3, FBN1, LAMA2
7cell adhesionGO:00071558.7COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2

Sources for Ullrich Congenital Muscular Dystrophy 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet