MCID: ULL003
MIFTS: 16

Ullrich Congenital Muscular Dystrophy 2

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 2

MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 2:

Name: Ullrich Congenital Muscular Dystrophy 2 53 71 28
Ucmd2 53 71

Classifications:



Summaries for Ullrich Congenital Muscular Dystrophy 2

UniProtKB/Swiss-Prot : 71 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 respiratory insufficiency 31 HP:0002093
3 facial palsy 31 HP:0010628
4 flexion contracture 31 HP:0001371
5 joint hypermobility 31 HP:0001382
6 areflexia 31 HP:0001284
7 motor delay 31 HP:0001270
8 congenital muscular dystrophy 31 HP:0003741
9 kyphoscoliosis 31 HP:0002751

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 2

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 2 28 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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