MCID: LNR001
MIFTS: 25

Leiner Disease

Categories: Immune diseases, Infectious diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Leiner Disease

MalaCards integrated aliases for Leiner Disease:

Name: Leiner Disease 19 58 75 5
Erythroderma Desquamativum 19 58
Complement Component 5 Deficiency 71

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 32 L21.1
Orphanet 58 ORPHA314
UMLS 71 C0343047

Summaries for Leiner Disease

GARD: 19 A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.

MalaCards based summary: Leiner Disease, also known as erythroderma desquamativum, is related to biotinidase deficiency and omenn syndrome. An important gene associated with Leiner Disease is C5 (Complement C5). Affiliated tissues include skin and breast, and related phenotypes are failure to thrive and seborrheic dermatitis

Orphanet: 58 A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.

Wikipedia: 75 Leiner's disease is a systemic disease, a skin disorder and extends to erythroderma, typically diagnosed... 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 biotinidase deficiency 10.1
2 omenn syndrome 10.1
3 biotin deficiency 10.1
4 skin disease 10.1
5 seborrheic dermatitis 10.1
6 dermatitis 10.0

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



Diseases related to Leiner Disease

Symptoms & Phenotypes for Leiner Disease

Human phenotypes related to Leiner Disease:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 seborrheic dermatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001051
3 diarrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002014
4 abnormality of immune system physiology 58 Very frequent (99-80%)

Drugs & Therapeutics for Leiner Disease

Search Clinical Trials, NIH Clinical Center for Leiner Disease

Genetic Tests for Leiner Disease

Anatomical Context for Leiner Disease

Organs/tissues related to Leiner Disease:

MalaCards : Skin, Breast

Publications for Leiner Disease

Articles related to Leiner Disease:

(show all 40)
# Title Authors PMID Year
1
Linking C5 deficiency to an exonic splicing enhancer mutation. 5
15778377 2005
2
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. 5
15488949 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. 5
7730648 1995
4
Leiner's disease (erythroderma desquamativum): A review and approach to therapy. 62
33166012 2021
5
[A case of amyopathic dermatomyositis with systemic sclerosis sine scleroderma presenting abnormal vermiculation]. 62
12355862 2002
6
Cutaneous manifestations of defective host defenses. 62
323807 1977
7
Failure of fresh plasma in Leiner Disease. 62
138393 1977
8
[Erythroderma desquamativum. Clinical studies with special reference to the associated malabsorption syndrome]. 62
4230198 1967
9
[Gangrene of the skin in erythroderma desquamativum in a child]. 62
14004132 1962
10
[Erythroderma desquamativum. Eczema in the infant]. 62
13930268 1962
11
[Erythroderma desquamativum in newborn infants. Unusual severe form with very early onset, perhaps familial]. 62
14475403 1962
12
[On the problem of the relationship of erythroderma desquamativum to seborrheic dermatitis]. 62
14460542 1962
13
[Contribution to the study of the blood protein system in children with erythroderma desquamativum]. 62
14034727 1962
14
[Clinical aspects, therapy and prevention of Leiner's erythroderma desquamativum]. 62
13767795 1960
15
[On Leiner's disease, erythroderma desquamativum]. 62
14460541 1960
16
[An easy method of treatment of erythroderma desquamativum]. 62
13743967 1960
17
[Presence of the staphylococcic infectious factor in etiopathogenesis of erythroderma desquamativum (Leiner's disease)]. 62
13541138 1958
18
[Fungistatic effect of serum of infants in Leiner disease, dermatitis, and eczema]. 62
13452512 1957
19
[Etiology of dermatitis seborrheica and Leiner's erythroderma desquamativum. II. Overall view of skin symptoms and other consequent general symptoms]. 62
13349232 1956
20
[Etiology and clinics of infantile dermatitis seborrheica and Leiner's erythroderma desquamativum. I. Role of Candida albicans]. 62
13349224 1956
21
[Combined therapy of Leiner's erythroderma desquamativum; contributions to the chapter of skin diseases in infants. II]. 62
13343943 1956
22
[Oral treatment of erythroderma desquamativum with cyanocobalamine; 14 case reports]. 62
13309114 1956
23
[Erythroderma desquamativum; Leiner's disease; 4 cases appearing simultaneously in a nursery]. 62
13294939 1955
24
[Disorders of the fat digestion in erythroderma desquamativum Leiner]. 62
13283457 1955
25
Erythroderma desquamativum (Leiner's disease). 62
14360782 1955
26
[Etiological role of Staphylococcus aureus in erythroderma desquamativum in infants (Leiner-Moussous disease); the presence of Staphylococcus aureus in the breast milk]. 62
13239221 1955
27
[New study of erythroderma desquamativum]. 62
13184269 1954
28
[Erythroderma desquamativum neonatorum]. 62
13215635 1954
29
[Problem of erythroderma desquamativum in infants]. 62
13133596 1953
30
[Erythroderma desquamativum due to antivitamin B6; preliminary observations in infant]. 62
13147847 1953
31
[Leiner's erythroderma desquamativum and vitamin B deficiency]. 62
13147834 1953
32
[Relating the generalized form of infantile erythema mycoticum to Leiner disease]. 62
13063971 1953
33
[Pyridoxine therapy of three cases of Leiner's erythroderma desquamativum]. 62
13066276 1953
34
[The origin of hypoproteinemia in erythroderma desquamativum]. 62
13060764 1953
35
[Tryptophan-xanthurenic test in erythroderma desquamativum]. 62
13057601 1953
36
[Certain clinical peculiarities of Leiner's erythroderma desquamativum]. 62
13003380 1952
37
[Etiopathogenesis and therapy of Leiner's erythroderma desquamativum]. 62
14956443 1952
38
[Erythroderma desquamativum and biotin deficiency]. 62
14943526 1952
39
[Treatment of Moussous' erythroderma desquamativum with desoxycorticosterone acetate and potassium]. 62
15440138 1949
40
Erythroderma desquamativum (Leiner's disease). 62
20276515 1946

Variations for Leiner Disease

ClinVar genetic disease variations for Leiner Disease:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C5 NM_001735.3(C5):c.1115A>G (p.Lys372Arg) SNV Pathogenic
17053 rs587776846 GRCh37: 9:123785683-123785683
GRCh38: 9:121023405-121023405
2 C5 NM_001735.3(C5):c.55C>T (p.Gln19Ter) SNV Pathogenic
Pathogenic
17050 rs121909587 GRCh37: 9:123812470-123812470
GRCh38: 9:121050192-121050192
3 C5 NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) SNV Pathogenic
17051 rs121909588 GRCh37: 9:123725027-123725027
GRCh38: 9:120962749-120962749
4 C5 NM_001735.3(C5):c.4872_4873delinsG (p.Leu1625fs) INDEL Pathogenic
17052 rs387906554 GRCh37: 9:123716036-123716037
GRCh38: 9:120953758-120953759
5 C5 NM_001735.3(C5):c.4336del (p.Val1446fs) DEL Likely Pathogenic
517604 rs1554718962 GRCh37: 9:123725233-123725233
GRCh38: 9:120962955-120962955
6 C5 NM_001735.3(C5):c.1711C>G (p.Leu571Val) SNV Uncertain Significance
548014 rs147226792 GRCh37: 9:123779926-123779926
GRCh38: 9:121017648-121017648
7 C5 NM_001735.3(C5):c.3413G>A (p.Arg1138Gln) SNV Uncertain Significance
625902 rs779879112 GRCh37: 9:123744195-123744195
GRCh38: 9:120981917-120981917
8 C5 NM_001735.3(C5):c.65C>T (p.Thr22Ile) SNV Uncertain Significance
1033860 rs142075999 GRCh37: 9:123812460-123812460
GRCh38: 9:121050182-121050182
9 C5 NM_001735.3(C5):c.4654G>A (p.Ala1552Thr) SNV Uncertain Significance
1342383 GRCh37: 9:123722550-123722550
GRCh38: 9:120960272-120960272
10 C5 NM_001735.3(C5):c.95G>A (p.Arg32His) SNV Uncertain Significance
1033861 rs144876205 GRCh37: 9:123808632-123808632
GRCh38: 9:121046354-121046354
11 C5 NM_001735.3(C5):c.754G>A (p.Ala252Thr) SNV Uncertain Significance
1009377 rs112959008 GRCh37: 9:123792679-123792679
GRCh38: 9:121030401-121030401
12 C5 NM_001735.3(C5):c.989T>C (p.Ile330Thr) SNV Likely Benign
982690 rs147430470 GRCh37: 9:123787743-123787743
GRCh38: 9:121025465-121025465

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....