MCID: LPT007
MIFTS: 13

Leptomeningeal Amyloidosis malady

Categories: Genetic diseases

Aliases & Classifications for Leptomeningeal Amyloidosis

Aliases & Descriptions for Leptomeningeal Amyloidosis:

Name: Leptomeningeal Amyloidosis 24
Amyloidosis, Leptomeningeal 52

Classifications:



Summaries for Leptomeningeal Amyloidosis

MalaCards based summary : Leptomeningeal Amyloidosis, also known as amyloidosis, leptomeningeal, is related to amyloidosis, hereditary, transthyretin-related and amyloidosis. An important gene associated with Leptomeningeal Amyloidosis is TTR (Transthyretin). The drugs Pemetrexed and leucovorin have been mentioned in the context of this disorder.

Related Diseases for Leptomeningeal Amyloidosis

Diseases related to Leptomeningeal Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 11.6
2 amyloidosis 10.2
3 siderosis 9.6
4 polyneuropathy 9.6
5 superficial siderosis 9.6

Graphical network of the top 20 diseases related to Leptomeningeal Amyloidosis:



Diseases related to Leptomeningeal Amyloidosis

Symptoms & Phenotypes for Leptomeningeal Amyloidosis

Drugs & Therapeutics for Leptomeningeal Amyloidosis

Drugs for Leptomeningeal Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pemetrexed Approved, Investigational Early Phase 1 150399-23-8, 137281-23-3 446556 60843
2
leucovorin Approved, Nutraceutical Early Phase 1 58-05-9 54575, 6560146 143
3
Folic Acid Approved, Nutraceutical, Vet_approved Early Phase 1 59-30-3 6037
4 Folic Acid Antagonists Early Phase 1
5 Nucleic Acid Synthesis Inhibitors Early Phase 1
6 Vitamin B Complex Early Phase 1
7 Folate Nutraceutical Early Phase 1
8 Vitamin B9 Nutraceutical Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pemetrexed Disodium in the Cerebrospinal Fluid of Patients With Leptomeningeal Metastases Active, not recruiting NCT00424242 Early Phase 1

Search NIH Clinical Center for Leptomeningeal Amyloidosis

Genetic Tests for Leptomeningeal Amyloidosis

Genetic tests related to Leptomeningeal Amyloidosis:

id Genetic test Affiliating Genes
1 Leptomeningeal Amyloidosis 24

Anatomical Context for Leptomeningeal Amyloidosis

Publications for Leptomeningeal Amyloidosis

Articles related to Leptomeningeal Amyloidosis:

(show all 11)
id Title Authors Year
1
An autopsy case of leptomeningeal amyloidosis associated with transthyretin Gly47Arg mutation. ( 27784877 )
2016
2
Leptomeningeal amyloidosis due to A25T TTR mutation: a case report. ( 23465688 )
2013
3
Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid. ( 22091638 )
2011
4
A new transthyretin mutation associated with leptomeningeal amyloidosis. ( 21838472 )
2011
5
Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. ( 19365058 )
2009
6
A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis. ( 18579156 )
2008
7
A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation. ( 16690499 )
2006
8
Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis. ( 16399646 )
2005
9
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. ( 15377697 )
2004
10
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. ( 10071047 )
1999
11
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. ( 8857732 )
1996

Variations for Leptomeningeal Amyloidosis

Expression for Leptomeningeal Amyloidosis

Search GEO for disease gene expression data for Leptomeningeal Amyloidosis.

Pathways for Leptomeningeal Amyloidosis

GO Terms for Leptomeningeal Amyloidosis

Sources for Leptomeningeal Amyloidosis

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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