MCID: LM5001
MIFTS: 6

Lama5-Related Multisystemic Syndrome

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Lama5-Related Multisystemic Syndrome

MalaCards integrated aliases for Lama5-Related Multisystemic Syndrome:

Name: Lama5-Related Multisystemic Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Orphanet 58 ORPHA521450

Summaries for Lama5-Related Multisystemic Syndrome

Orphanet: 58 A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.

MalaCards based summary: Lama5-Related Multisystemic Syndrome An important gene associated with Lama5-Related Multisystemic Syndrome is LAMA5 (Laminin Subunit Alpha 5). Affiliated tissues include kidney, bone and skin.

Related Diseases for Lama5-Related Multisystemic Syndrome

Symptoms & Phenotypes for Lama5-Related Multisystemic Syndrome

Drugs & Therapeutics for Lama5-Related Multisystemic Syndrome

Search Clinical Trials, NIH Clinical Center for Lama5-Related Multisystemic Syndrome

Genetic Tests for Lama5-Related Multisystemic Syndrome

Anatomical Context for Lama5-Related Multisystemic Syndrome

Organs/tissues related to Lama5-Related Multisystemic Syndrome:

MalaCards : Kidney, Bone, Skin

Publications for Lama5-Related Multisystemic Syndrome

Variations for Lama5-Related Multisystemic Syndrome

Expression for Lama5-Related Multisystemic Syndrome

Search GEO for disease gene expression data for Lama5-Related Multisystemic Syndrome.

Pathways for Lama5-Related Multisystemic Syndrome

GO Terms for Lama5-Related Multisystemic Syndrome

Sources for Lama5-Related Multisystemic Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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