MCID: LNR001
MIFTS: 19

Leiner Disease

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Leiner Disease

MalaCards integrated aliases for Leiner Disease:

Name: Leiner Disease 54 30 6 41
Complement Component 5 Deficiency 74
Erythroderma Desquamativum 54

Classifications:



External Ids:

UMLS 74 C0343047

Summaries for Leiner Disease

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, breast and t cells.

Wikipedia : 77 Leiner''s disease is a systemic disease, a skin disorder and extends to erythroderma, typically... more...

Related Diseases for Leiner Disease

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 complement component 5 deficiency 11.2

Symptoms & Phenotypes for Leiner Disease

Drugs & Therapeutics for Leiner Disease

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

(showing 53, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Emollients Phase 4
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
5
Gemcitabine Approved Phase 2 95058-81-4 60750
6
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
7
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
8
rituximab Approved Phase 2 174722-31-7 10201696
9
ofatumumab Approved Phase 2 679818-59-8 6918251
10
Durvalumab Approved, Investigational Phase 2 1428935-60-7
11
Tremelimumab Investigational Phase 2 745013-59-6
12 Protein Kinase Inhibitors Phase 2
13 Bendamustine Hydrochloride Phase 2
14 Complement System Proteins Phase 2
15 Alkylating Agents Phase 2
16 Immunologic Factors Phase 2,Phase 1
17 Antibodies Phase 2,Phase 1
18 Immunoglobulin G Phase 2
19 Nitrogen Mustard Compounds Phase 2
20 Antibodies, Monoclonal Phase 2,Phase 1
21 Immunoglobulins Phase 2,Phase 1
22 Antineoplastic Agents, Alkylating Phase 2
23 Complement C3 Phase 2
24 Vaccines Phase 2,Phase 1
25 Antineoplastic Agents, Immunological Phase 2,Phase 1
26
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
27
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
28
Coal tar Approved Phase 1 8007-45-2
29
nivolumab Approved Phase 1 946414-94-4
30
Ipilimumab Approved Phase 1 477202-00-9
31
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
32
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 43805 6857599 5310940 9887054
33
Bevacizumab Approved, Investigational Phase 1 216974-75-3
34
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
36 Antibodies, Blocking Phase 1
37 Poly I-C Phase 1
38 Poly ICLC Phase 1
39 interferons Phase 1
40 Interferon Inducers Phase 1
41 Antiviral Agents Phase 1
42 Antimetabolites Phase 1
43 Anti-Infective Agents Phase 1
44 Pharmaceutical Solutions Phase 1
45 Angiogenesis Inhibitors Phase 1
46 Angiogenesis Modulating Agents Phase 1
47 retinol Phase 1
48 Retinol palmitate Phase 1
49 Anticoagulants Not Applicable
50 Anti-Ulcer Agents Not Applicable
51 fucoidan Not Applicable
52 Antacids Not Applicable
53 Gastrointestinal Agents Not Applicable

Interventional clinical trials:

(showing 13, show less)
# 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 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
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 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Recruiting NCT03422094 Phase 1
10 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Active, not recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
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
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

Genetic Tests for Leiner Disease

Genetic tests related to Leiner Disease:

# Genetic test Affiliating Genes
1 Leiner Disease 30 C5

Anatomical Context for Leiner Disease

MalaCards organs/tissues related to Leiner Disease:

42
Skin, Breast, T Cells, B Cells

Publications for Leiner Disease

Articles related to Leiner Disease:

(showing 4, show less)
# Title Authors Year
1
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
2
Linking C5 deficiency to an exonic splicing enhancer mutation. ( 15778377 )
2005
3
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. ( 7730648 )
1995
4
Failure of fresh plasma in Leiner Disease. ( 138393 )
1977

Variations for Leiner Disease

ClinVar genetic disease variations for Leiner Disease:

6 (showing 12, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh38 Chromosome 9, 121023405: 121023405
2 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh37 Chromosome 9, 123812470: 123812470
3 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh38 Chromosome 9, 121050192: 121050192
4 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh37 Chromosome 9, 123725027: 123725027
5 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh38 Chromosome 9, 120962749: 120962749
6 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh37 Chromosome 9, 123716036: 123716037
7 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh38 Chromosome 9, 120953758: 120953759
8 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh37 Chromosome 9, 123785683: 123785683
9 C5 NM_001735.2(C5): c.1711C> G (p.Leu571Val) single nucleotide variant Uncertain significance rs147226792 GRCh37 Chromosome 9, 123779926: 123779926
10 C5 NM_001735.2(C5): c.1711C> G (p.Leu571Val) single nucleotide variant Uncertain significance rs147226792 GRCh38 Chromosome 9, 121017648: 121017648
11 C5 NM_001735.2(C5): c.3413G> A (p.Arg1138Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 123744195: 123744195
12 C5 NM_001735.2(C5): c.3413G> A (p.Arg1138Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 120981917: 120981917

Expression for Leiner Disease

Search GEO for disease gene expression data for Leiner Disease.

Pathways for Leiner Disease

GO Terms for Leiner Disease

Sources for Leiner Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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