UCMD2
MCID: ULL003
MIFTS: 18

Ullrich Congenital Muscular Dystrophy 2 (UCMD2) malady

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 2

Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 2:

Name: Ullrich Congenital Muscular Dystrophy 2 54 24 66 29
Ucmd2 24 66

Classifications:



External Ids:

OMIM 54 616470
MedGen 40 CN231482
MeSH 42 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 2

UniProtKB/Swiss-Prot : 66 Ullrich congenital muscular dystrophy 2: A form of Ullrich muscular dystrophy, 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.

MalaCards based summary : Ullrich Congenital Muscular Dystrophy 2, is also known as ucmd2, and has symptoms including high palate, respiratory insufficiency and facial palsy. An important gene associated with Ullrich Congenital Muscular Dystrophy 2 is COL12A1 (Collagen Type XII Alpha 1 Chain).

Description from OMIM: 616470

Related Diseases for Ullrich Congenital Muscular Dystrophy 2

Diseases in the Ullrich Congenital Muscular Dystrophy 1 family:

Ullrich Congenital Muscular Dystrophy 2

Symptoms & Phenotypes for Ullrich Congenital Muscular Dystrophy 2

Clinical features from OMIM:

616470

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 2:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 respiratory insufficiency 32 HP:0002093
3 facial palsy 32 HP:0010628
4 flexion contracture 32 HP:0001371
5 joint hypermobility 32 HP:0001382
6 areflexia 32 HP:0001284
7 motor delay 32 HP:0001270
8 congenital muscular dystrophy 32 HP:0003741
9 kyphoscoliosis 32 HP:0002751

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 2

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 2

Genetic Tests for Ullrich Congenital Muscular Dystrophy 2

Genetic tests related to Ullrich Congenital Muscular Dystrophy 2:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 2 29 24 COL12A1

Anatomical Context for Ullrich Congenital Muscular Dystrophy 2

Publications for Ullrich Congenital Muscular Dystrophy 2

Variations for Ullrich Congenital Muscular Dystrophy 2

ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL12A1 NM_004370.5(COL12A1): c.7840+1G> A single nucleotide variant Pathogenic rs875989819 GRCh37 Chromosome 6, 75823317: 75823317

Expression for Ullrich Congenital Muscular Dystrophy 2

Search GEO for disease gene expression data for Ullrich Congenital Muscular Dystrophy 2.

Pathways for Ullrich Congenital Muscular Dystrophy 2

GO Terms for Ullrich Congenital Muscular Dystrophy 2

Sources for Ullrich Congenital Muscular Dystrophy 2

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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
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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