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MCID: LNR001
MIFTS: 17

Leiner Disease

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Leiner Disease

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MalaCards integrated aliases for Leiner Disease:

Name: Leiner Disease 53 29 6 40
Complement Component 5 Deficiency 53 73
Dysfunction of the Fifth Component of Complement 53
C5 Deficiency 53

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 73 C0343047
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Summaries for Leiner Disease

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MalaCards based summary : Leiner Disease, also known as complement component 5 deficiency, is related to complement component 5 deficiency. An important gene associated with Leiner Disease is C5 (Complement C5). The drugs Dermatologic Agents and Emollients have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and t cells.

Wikipedia : 76 Leiner\'s disease is a systemic disease, a skin disorder and extends to erythroderma, typically... more...

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Related Diseases for Leiner Disease

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Diseases related to Leiner Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 complement component 5 deficiency 11.0

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Symptoms & Phenotypes for Leiner Disease

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Drugs & Therapeutics for Leiner Disease

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Drugs for Leiner Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Emollients Phase 4
3
rituximab Approved Phase 2 174722-31-7 10201696
4
Gemcitabine Approved Phase 2 95058-81-4 60750
5
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
6
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
7
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
8
Trametinib Approved Phase 2 871700-17-3 11707110
9 Alkylating Agents Phase 2
10 Complement System Proteins Phase 2
11 Nitrogen Mustard Compounds Phase 2
12 Immunoglobulin G Phase 2
13 Antibodies Phase 2,Phase 1
14 Immunoglobulins Phase 2,Phase 1
15 Antibodies, Monoclonal Phase 2,Phase 1
16 Protein Kinase Inhibitors Phase 2
17 Bendamustine Hydrochloride Phase 2
18 Antineoplastic Agents, Alkylating Phase 2
19
Everolimus Approved Phase 1 159351-69-6 6442177
20
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
21
Coal tar Approved Phase 1 8007-45-2
22
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 5310940 9887054 43805 6857599
23
Bevacizumab Approved, Investigational Phase 1 216974-75-3
24
nivolumab Approved Phase 1 946414-94-4
25
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
26
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
27 Angiogenesis Inhibitors Phase 1
28 Angiogenesis Modulating Agents Phase 1
29 Pharmaceutical Solutions Phase 1
30 Anti-Infective Agents Phase 1
31 Antimetabolites Phase 1
32 Antiviral Agents Phase 1
33 interferons Phase 1
34 Vaccines Phase 1
35 Antibodies, Blocking Phase 1
36 Poly I-C Phase 1
37 Poly ICLC Phase 1
38 Interferon Inducers Phase 1
39 Retinol palmitate Phase 1
40 tyrosine Nutraceutical Phase 1
41 retinol Nutraceutical Phase 1
42 Complement C3 Not Applicable
43 fucoidan Not Applicable
44 Gastrointestinal Agents Not Applicable
45 Antacids Not Applicable
46 Anticoagulants Not Applicable
47 Anti-Ulcer Agents Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Promiseb Topical Cream for Cradle Cap Completed NCT01214434 Phase 4
2 Open-label Study to Evaluate the Safety, PK, and PD of MEK Inhibitor GSK1120212 in Subjects With Relapsed or Refractory Leukemias Completed NCT00920140 Phase 2 GSK1120212;GSK1120212
3 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
4 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
5 Study Of Ispinesib In Subjects With Breast Cancer Completed NCT00089973 Phase 2 Ispinesib
6 Study of ARQ 092 in Patients With Overgrowth Diseases and/or Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2 ARQ 092
7 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
8 Escalating Dose Study in Subjects With Relapsed or Refractory B Cell Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, and Waldenstrom's Macroglobulinemia Completed NCT01351935 Phase 1 AVL-292
9 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
10 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Not yet recruiting NCT03422094 Phase 1
11 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
12 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697 Not Applicable
13 To Evaluate the QoL Improvement of Oral Oligo Fucoidan in Subjects Receiving Platinum-based Chemotherapy With NSCLC Not yet recruiting NCT03130829 Not Applicable

Search NIH Clinical Center for Leiner Disease

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Genetic Tests for Leiner Disease

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Genetic tests related to Leiner Disease:

# Genetic test Affiliating Genes
1 Leiner Disease 29 C5
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Anatomical Context for Leiner Disease

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MalaCards organs/tissues related to Leiner Disease:

41
Skin, B Cells, T Cells
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Publications for Leiner Disease

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Articles related to Leiner Disease:

# Title Authors Year
1
Failure of fresh plasma in Leiner Disease. ( 138393 )
1977
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Variations for Leiner Disease

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ClinVar genetic disease variations for Leiner Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh37 Chromosome 9, 123812470: 123812470
2 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh38 Chromosome 9, 121050192: 121050192
3 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh37 Chromosome 9, 123725027: 123725027
4 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh38 Chromosome 9, 120962749: 120962749
5 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh37 Chromosome 9, 123716036: 123716037
6 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh38 Chromosome 9, 120953758: 120953759
7 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh37 Chromosome 9, 123785683: 123785683
8 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh38 Chromosome 9, 121023405: 121023405
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Expression for Leiner Disease

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Search GEO for disease gene expression data for Leiner Disease.
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Pathways for Leiner Disease

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GO Terms for Leiner Disease

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Sources for Leiner Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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