MCID: ULL003
MIFTS: 16

Ullrich Congenital Muscular Dystrophy 2 malady

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

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 2

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Aliases & Descriptions for Ullrich Congenital Muscular Dystrophy 2:

Name: Ullrich Congenital Muscular Dystrophy 2 50 23 68 25
 
Ucmd2 23 68

Classifications:



External Ids:

OMIM50 616470
MedGen35 CN231482
MeSH37 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 2

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UniProtKB/Swiss-Prot:68 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, motor delay and areflexia. An important gene associated with Ullrich Congenital Muscular Dystrophy 2 is COL12A1 (Collagen Type XII Alpha 1 Chain).

Description from OMIM:50 616470

Related Diseases for Ullrich Congenital Muscular Dystrophy 2

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Diseases in the Ullrich Congenital Muscular Dystrophy 1 family:

ullrich congenital muscular dystrophy 2

Symptoms for Ullrich Congenital Muscular Dystrophy 2

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Clinical features from OMIM:

616470

HPO human phenotypes related to Ullrich Congenital Muscular Dystrophy 2:

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

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 2

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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 2

Genetic Tests for Ullrich Congenital Muscular Dystrophy 2

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Genetic tests related to Ullrich Congenital Muscular Dystrophy 2:

id Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 225 23 COL12A1

Anatomical Context for Ullrich Congenital Muscular Dystrophy 2

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Animal Models for Ullrich Congenital Muscular Dystrophy 2 or affiliated genes

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Publications for Ullrich Congenital Muscular Dystrophy 2

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Variations for Ullrich Congenital Muscular Dystrophy 2

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Clinvar genetic disease variations for Ullrich Congenital Muscular Dystrophy 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL12A1NM_004370.5(COL12A1): c.7840+1G> Asingle nucleotide variantPathogenicrs875989819GRCh37Chr 6, 75823317: 75823317

Expression for genes affiliated with Ullrich Congenital Muscular Dystrophy 2

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

Pathways for genes affiliated with Ullrich Congenital Muscular Dystrophy 2

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GO Terms for genes affiliated with Ullrich Congenital Muscular Dystrophy 2

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Sources for Ullrich Congenital Muscular Dystrophy 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet