MCID: LNR001
MIFTS: 13

Leiner Disease

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Leiner Disease

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:



External Ids:

UMLS 73 C0343047

Summaries for Leiner Disease

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

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 seborrheic infantile dermatitis 11.3
2 complement component 5 deficiency 11.1
3 meningitis 10.2
4 malaria 9.9
5 arthritis 9.9
6 meningococcal meningitis 9.9
7 acute pancreatitis 9.9
8 pancreatitis 9.9
9 amyloidosis 9.9
10 meningococcal infection 9.9

Graphical network of the top 20 diseases related to Leiner Disease:



Diseases related to Leiner Disease

Symptoms & Phenotypes for Leiner Disease

Drugs & Therapeutics for Leiner Disease

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Emollients Phase 4
2 Dermatologic Agents Phase 4
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
5
Gemcitabine Approved Phase 2 95058-81-4 60750
6
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
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
Tremelimumab Investigational Phase 2 745013-59-6
11 Protein Kinase Inhibitors Phase 2
12 Complement System Proteins Phase 2
13 Antibodies, Monoclonal Phase 2,Phase 1
14 Immunologic Factors Phase 2,Phase 1
15 Immunoglobulin G Phase 2
16 Nitrogen Mustard Compounds Phase 2
17 Bendamustine Hydrochloride Phase 2
18 Alkylating Agents Phase 2
19 Antibodies Phase 2,Phase 1
20 Immunoglobulins Phase 2,Phase 1
21 Antineoplastic Agents, Alkylating Phase 2
22 Complement C3 Phase 2
23 Vaccines Phase 2,Phase 1
24
Everolimus Approved Phase 1 159351-69-6 6442177
25
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
26
Coal tar Approved Phase 1 8007-45-2
27
Nivolumab Approved Phase 1 946414-94-4
28
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 43805 6857599 5310940 9887054
29
Bevacizumab Approved, Investigational Phase 1 216974-75-3
30
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
31
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
32 tyrosine Phase 1
33 interferons Phase 1
34 Antibodies, Blocking Phase 1
35 Poly I-C Phase 1
36 Poly ICLC Phase 1
37 Interferon Inducers Phase 1
38 Antiviral Agents Phase 1
39 Pharmaceutical Solutions Phase 1
40 Angiogenesis Modulating Agents Phase 1
41 Antimetabolites Phase 1
42 Anti-Infective Agents Phase 1
43 Angiogenesis Inhibitors Phase 1
44 Retinol palmitate Phase 1
45 retinol Phase 1
46 Antacids Not Applicable
47 Anticoagulants Not Applicable
48 Gastrointestinal Agents Not Applicable
49 Anti-Ulcer Agents Not Applicable
50 fucoidan 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 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 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 29 C5

Anatomical Context for Leiner Disease

MalaCards organs/tissues related to Leiner Disease:

41
Skin

Publications for Leiner Disease

Articles related to Leiner Disease:

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

Variations for Leiner Disease

ClinVar genetic disease variations for Leiner Disease:

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

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 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
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