MCID: ULL003
MIFTS: 18

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 52 24 70 27
 
Ucmd2 24 70

Classifications:



External Ids:

OMIM52 616470
MedGen37 CN231482
MeSH39 D009136

Summaries for Ullrich Congenital Muscular Dystrophy 2

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Ullrich Congenital Muscular Dystrophy 2

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Clinical features from OMIM:

616470

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 2:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 motor delay64 HP:0001270
3 areflexia64 HP:0001284
4 flexion contracture64 HP:0001371
5 joint hypermobility64 HP:0001382
6 respiratory insufficiency64 HP:0002093
7 kyphoscoliosis64 HP:0002751
8 congenital muscular dystrophy64 HP:0003741
9 facial palsy64 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 227 24 COL12A1

Anatomical Context for Ullrich Congenital Muscular Dystrophy 2

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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> ASNVPathogenicrs875989819GRCh37Chr 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
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