Leiner Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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Related Diseases for Leiner Disease

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

#	Related Disease	Score
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:

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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%)

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Drugs & Therapeutics for Leiner Disease

Search Clinical Trials, NIH Clinical Center for Leiner Disease

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Genetic Tests for Leiner Disease

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Anatomical Context for Leiner Disease

Organs/tissues related to Leiner Disease:

MalaCards : Skin, Breast

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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	Pfarr N...Pohlenz J	15778377	2005
2	C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ⁵	Delgado-Cervino E...Lopez-Trascasa M	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	Wang X...Wetsel RA	7730648	1995
4	Leiner's disease (erythroderma desquamativum): A review and approach to therapy. ⁶²	Sanghvi SY...Schwartz RA	33166012	2021
5	[A case of amyopathic dermatomyositis with systemic sclerosis sine scleroderma presenting abnormal vermiculation]. ⁶²	Kubo N...Hayashi J	12355862	2002
6	Cutaneous manifestations of defective host defenses. ⁶²	Weston WL	323807	1977
7	Failure of fresh plasma in Leiner Disease. ⁶²	Weston WL...Humbert JR	138393	1977
8	[Erythroderma desquamativum. Clinical studies with special reference to the associated malabsorption syndrome]. ⁶²	Den Tandt W...Bourgeois N	4230198	1967
9	[Gangrene of the skin in erythroderma desquamativum in a child]. ⁶²	ZVER'KOVA FA...LITVINOK NV	14004132	1962
10	[Erythroderma desquamativum. Eczema in the infant]. ⁶²	LEVY JM	13930268	1962
11	[Erythroderma desquamativum in newborn infants. Unusual severe form with very early onset, perhaps familial]. ⁶²	MONNET P...BRUNAT M	14475403	1962
12	[On the problem of the relationship of erythroderma desquamativum to seborrheic dermatitis]. ⁶²	KUNDRATITZ K	14460542	1962
13	[Contribution to the study of the blood protein system in children with erythroderma desquamativum]. ⁶²	KORAC D...PAVLOVIC-KENTERA V	14034727	1962
14	[Clinical aspects, therapy and prevention of Leiner's erythroderma desquamativum]. ⁶²	MASLOV PE...BELIAKOVA AG	13767795	1960
15	[On Leiner's disease, erythroderma desquamativum]. ⁶²	KUNDRATITZ K	14460541	1960
16	[An easy method of treatment of erythroderma desquamativum]. ⁶²	ROUGICHITCH OS...SOUBITCH M	13743967	1960
17	[Presence of the staphylococcic infectious factor in etiopathogenesis of erythroderma desquamativum (Leiner's disease)]. ⁶²	NICOLINI A...QUARTI M	13541138	1958
18	[Fungistatic effect of serum of infants in Leiner disease, dermatitis, and eczema]. ⁶²	IVADY G...DOSA A	13452512	1957
19	[Etiology of dermatitis seborrheica and Leiner's erythroderma desquamativum. II. Overall view of skin symptoms and other consequent general symptoms]. ⁶²	NADRAI A...VENKEI T	13349232	1956
20	[Etiology and clinics of infantile dermatitis seborrheica and Leiner's erythroderma desquamativum. I. Role of Candida albicans]. ⁶²	LIEBNER E...FLORIAN E	13349224	1956
21	[Combined therapy of Leiner's erythroderma desquamativum; contributions to the chapter of skin diseases in infants. II]. ⁶²	BUGYI G	13343943	1956
22	[Oral treatment of erythroderma desquamativum with cyanocobalamine; 14 case reports]. ⁶²	NICOLINI A	13309114	1956
23	[Erythroderma desquamativum; Leiner's disease; 4 cases appearing simultaneously in a nursery]. ⁶²	BUDIANSKY E...CABRAL LP	13294939	1955
24	[Disorders of the fat digestion in erythroderma desquamativum Leiner]. ⁶²	MESTER A...RADEK M	13283457	1955
25	Erythroderma desquamativum (Leiner's disease). ⁶²	CROTTY RQ	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	CAYLA A...JACOB	13239221	1955
27	[New study of erythroderma desquamativum]. ⁶²	MARTIN MC	13184269	1954
28	[Erythroderma desquamativum neonatorum]. ⁶²	KOWARZ-SOKOLOWSKA H	13215635	1954
29	[Problem of erythroderma desquamativum in infants]. ⁶²	SEMENOVA EI	13133596	1953
30	[Erythroderma desquamativum due to antivitamin B6; preliminary observations in infant]. ⁶²	SARTORI E	13147847	1953
31	[Leiner's erythroderma desquamativum and vitamin B deficiency]. ⁶²	BENTIVOGLIO G	13147834	1953
32	[Relating the generalized form of infantile erythema mycoticum to Leiner disease]. ⁶²	MARAMAROSI G...TUZA K	13063971	1953
33	[Pyridoxine therapy of three cases of Leiner's erythroderma desquamativum]. ⁶²	SCROFANI JJ	13066276	1953
34	[The origin of hypoproteinemia in erythroderma desquamativum]. ⁶²	FERENCZ P...BODA D	13060764	1953
35	[Tryptophan-xanthurenic test in erythroderma desquamativum]. ⁶²	DONNASIBILLA LB	13057601	1953
36	[Certain clinical peculiarities of Leiner's erythroderma desquamativum]. ⁶²	GODLEWSKI J	13003380	1952
37	[Etiopathogenesis and therapy of Leiner's erythroderma desquamativum]. ⁶²	STAJIC S	14956443	1952
38	[Erythroderma desquamativum and biotin deficiency]. ⁶²	BULGARELLI R	14943526	1952
39	[Treatment of Moussous' erythroderma desquamativum with desoxycorticosterone acetate and potassium]. ⁶²	BARTA L...FARKAS E	15440138	1949
40	Erythroderma desquamativum (Leiner's disease). ⁶²	STADLER HE...BYRNE BK	20276515	1946

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Genes for Leiner Disease

Genes related to Leiner Disease (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	C5	Complement C5	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	7730648 15488949 15778377

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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

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Expression for Leiner Disease

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

¹ BitterDB

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²⁶ GEO DataSets

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁶⁸ SNOMED-CT

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⁷⁰ Tocris

⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LNR001 MIFTS: 25	Leiner Disease Categories: Immune diseases, Infectious diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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