MCID: LNR001
MIFTS: 18

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 72
Erythroderma Desquamativum 53

Classifications:



External Ids:

UMLS 72 C0343047

Summaries for Leiner Disease

MalaCards based summary : Leiner Disease, also known as complement component 5 deficiency, is related to complement component 5 deficiency and biotin deficiency. An important gene associated with Leiner Disease is C5 (Complement C5). Affiliated tissues include skin, testes and breast.

Related Diseases for Leiner Disease

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

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 complement component 5 deficiency 11.3
2 biotin deficiency 10.3
3 skin disease 10.3
4 seborrheic dermatitis 10.3
5 dermatitis 10.1

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

Search Clinical Trials , 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, Testes, Breast

Publications for Leiner Disease

Articles related to Leiner Disease:

(showing 36, show less)
# Title Authors PMID Year
1
[A case of amyopathic dermatomyositis with systemic sclerosis sine scleroderma presenting abnormal vermiculation]. 38
12355862 2002
2
Cutaneous manifestations of defective host defenses. 38
323807 1977
3
Failure of fresh plasma in Leiner Disease. 38
138393 1977
4
[Erythroderma desquamativum. Clinical studies with special reference to the associated malabsorption syndrome]. 38
4230198 1967
5
[Gangrene of the skin in erythroderma desquamativum in a child]. 38
14004132 1962
6
[Erythroderma desquamativum. Eczema in the infant]. 38
13930268 1962
7
[On the problem of the relationship of erythroderma desquamativum to seborrheic dermatitis]. 38
14460542 1962
8
[Erythroderma desquamativum in newborn infants. Unusual severe form with very early onset, perhaps familial]. 38
14475403 1962
9
[Contribution to the study of the blood protein system in children with erythroderma desquamativum]. 38
14034727 1962
10
[Clinical aspects, therapy and prevention of Leiner's erythroderma desquamativum]. 38
13767795 1960
11
[On Leiner's disease, erythroderma desquamativum]. 38
14460541 1960
12
[An easy method of treatment of erythroderma desquamativum]. 38
13743967 1960
13
[Presence of the staphylococcic infectious factor in etiopathogenesis of erythroderma desquamativum (Leiner's disease)]. 38
13541138 1958
14
[Fungistatic effect of serum of infants in Leiner disease, dermatitis, and eczema]. 38
13452512 1957
15
[Etiology and clinics of infantile dermatitis seborrheica and Leiner's erythroderma desquamativum. I. Role of Candida albicans]. 38
13349224 1956
16
[Etiology of dermatitis seborrheica and Leiner's erythroderma desquamativum. II. Overall view of skin symptoms and other consequent general symptoms]. 38
13349232 1956
17
[Combined therapy of Leiner's erythroderma desquamativum; contributions to the chapter of skin diseases in infants. II]. 38
13343943 1956
18
[Oral treatment of erythroderma desquamativum with cyanocobalamine; 14 case reports]. 38
13309114 1956
19
[Erythroderma desquamativum; Leiner's disease; 4 cases appearing simultaneously in a nursery]. 38
13294939 1955
20
[Disorders of the fat digestion in erythroderma desquamativum Leiner]. 38
13283457 1955
21
Erythroderma desquamativum (Leiner's disease). 38
14360782 1955
22
[Etiological role of Staphylococcus aureus in erythroderma desquamativum in infants (Leiner-Moussous disease); the presence of Staphylococcus aureus in the breast milk]. 38
13239221 1955
23
[New study of erythroderma desquamativum]. 38
13184269 1954
24
[Erythroderma desquamativum neonatorum]. 38
13215635 1954
25
[Problem of erythroderma desquamativum in infants]. 38
13133596 1953
26
[Erythroderma desquamativum due to antivitamin B6; preliminary observations in infant]. 38
13147847 1953
27
[Leiner's erythroderma desquamativum and vitamin B deficiency]. 38
13147834 1953
28
[Pyridoxine therapy of three cases of Leiner's erythroderma desquamativum]. 38
13066276 1953
29
[Relating the generalized form of infantile erythema mycoticum to Leiner disease]. 38
13063971 1953
30
[The origin of hypoproteinemia in erythroderma desquamativum]. 38
13060764 1953
31
[Tryptophan-xanthurenic test in erythroderma desquamativum]. 38
13057601 1953
32
[Certain clinical peculiarities of Leiner's erythroderma desquamativum]. 38
13003380 1952
33
[Etiopathogenesis and therapy of Leiner's erythroderma desquamativum]. 38
14956443 1952
34
[Erythroderma desquamativum and biotin deficiency]. 38
14943526 1952
35
[Treatment of Moussous' erythroderma desquamativum with desoxycorticosterone acetate and potassium]. 38
15440138 1949
36
Erythroderma desquamativum (Leiner's disease). 38
20276515 1946

Variations for Leiner Disease

ClinVar genetic disease variations for Leiner Disease:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 9:123812470-123812470 9:121050192-121050192
2 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 9:123725027-123725027 9:120962749-120962749
3 C5 NM_001735.2(C5): c.4872_4873delinsG (p.Leu1625fs) indel Pathogenic rs387906554 9:123716036-123716037 9:120953758-120953759
4 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 9:123785683-123785683 9:121023405-121023405
5 C5 NM_001735.2(C5): c.3413G> A (p.Arg1138Gln) single nucleotide variant Uncertain significance 9:123744195-123744195 9:120981917-120981917
6 C5 NM_001735.2(C5): c.1711C> G (p.Leu571Val) single nucleotide variant Uncertain significance rs147226792 9:123779926-123779926 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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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