Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards integrated aliases for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Name: Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige ⁵⁶ ²⁹ ⁶ ³⁹ ⁷¹

Sam Syndrome ⁵⁶ ⁵⁸ ⁷³

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige ⁵⁶ ⁷³

Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome ⁵⁶ ⁷³

Epkhe ⁵⁶ ⁷³

Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome ⁵⁸

Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome ⁵⁸

Dermatitis, Exfoliative ⁴³

Characteristics:

Orphanet epidemiological data:

⁵⁸

severe dermatitis-multiple allergies-metabolic wasting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers exhibit palmoplantar hyperkeratosis (see )
death in early childhood has been reported in some presumed homozygotes
two families described (last curated november 2013)

HPO:

³¹

erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare skin diseases

Rare allergic disease

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 615508

MeSH ⁴³ D003873 D007039 D007645

ICD10 via Orphanet ³³ Q82.8

Orphanet ⁵⁸ ORPHA369992

MedGen ⁴¹ C3809719 CN181198

UMLS ⁷¹ C3809719

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Summaries for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

UniProtKB/Swiss-Prot : ⁷³ Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.

MalaCards based summary : Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige, also known as sam syndrome, is related to palmoplantar keratosis and hypotrichosis. An important gene associated with Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Keratinization and Apoptotic cleavage of cellular proteins. The drugs Brodalumab and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and brain, and related phenotypes are ventricular septal defect and pulmonic stenosis

More information from OMIM: 615508

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Related Diseases for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)

#	Related Disease	Score	Top Affiliating Genes
1	palmoplantar keratosis	29.5	DSP DSG1
2	hypotrichosis	29.4	DSG1-AS1 DSG1
3	exfoliative dermatitis	12.0
4	short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	11.6
5	dermatitis, atopic	11.3
6	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	10.2
7	dermatitis	10.2
8	erythrokeratoderma ''en cocardes''	10.2
9	rare genetic skin disease	10.2
10	congestive heart failure	9.9
11	pemphigus gestationis	9.9	DSP DSG1
12	pemphigus	9.9	DSP DSG1
13	striate palmoplantar keratoderma	9.9	DSP DSG1
14	diffuse palmoplantar keratoderma	9.9	DSP DSG1
15	subcorneal pustular dermatosis	9.8	DSP DSG1
16	paraneoplastic pemphigus	9.8	DSP DSG1
17	autoimmune disease of skin and connective tissue	9.8	DSP DSG1
18	erythrokeratodermia variabilis et progressiva 1	9.8
19	psoriasis 14, pustular	9.8
20	erythrokeratodermia variabilis et progressiva 5	9.8
21	synostosis	9.8
22	pustulosis of palm and sole	9.8
23	lung disease	9.8
24	psoriasis	9.8
25	bronchiectasis	9.8
26	hypereosinophilic syndrome	9.8
27	pustular psoriasis	9.8
28	vesiculobullous skin disease	9.8	DSP DSG1
29	bullous skin disease	9.8	DSP DSG1
30	skin disease	9.8	DSP DSG1
31	benign chronic pemphigus	9.8	DSP DSG1
32	pemphigus vulgaris, familial	9.8	DSP DSG1
33	pachyonychia congenita 1	9.7	DSP DSG1
34	cellulitis	9.7	DSP DSG1
35	keratosis	9.6	DSP DSG1
36	castleman disease	9.5	DSP DSG1
37	bullous pemphigoid	9.4	DSP DSG1

Graphical network of the top 20 diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

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Symptoms & Phenotypes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Human phenotypes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	ventricular septal defect ³¹	occasional (7.5%)	HP:0001629
2	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
3	recurrent respiratory infections ³¹		HP:0002205
4	palmoplantar keratoderma ³¹		HP:0000982
5	psoriasiform dermatitis ³¹		HP:0003765
6	growth delay ³¹		HP:0001510
7	hypotrichosis ³¹		HP:0001006
8	erythroderma ³¹		HP:0001019
9	recurrent skin infections ³¹		HP:0001581
10	acantholysis ³¹		HP:0100792
11	hypernatremia ³¹		HP:0003228
12	hypergranulosis ³¹		HP:0025114
13	orthokeratosis ³¹		HP:0040162

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
hypotrichosis

Growth Other:
growth retardation

Cardiovascular Vascular:
pulmonic stenosis, mild (in some patients)

Skin Nails Hair Skin Electron Microscopy:
uneven distribution of desmosomes in upper epidermis

Laboratory Abnormalities:
severe hypernatremia in neonatal period

Skin Nails Hair Skin Histology:
psoriasiform dermatitis
alternating parakeratosis and orthokeratosis
alternating hypogranulosis and hypergranulosis
widespread acantholysis within spinous and granular layers
subcorneal and intragranular separation

Skin Nails Hair Skin:
recurrent skin infections
scaling
erosions
erythroderma, generalized congenital
hyperkeratotic yellowish papules and plaques arranged linearly on palms and fingers
more

Cardiovascular Heart:
ventricular septal defect (in some patients)

Abdomen Gastrointestinal:
esophagitis, eosinophilic (in some patients)
esophageal reflux (in some patients)

Immunology:
markedly elevated ige levels
recurrent skin and respiratory infections

Clinical features from OMIM:

615508

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Drugs & Therapeutics for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Drugs for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Brodalumab

Approved, Investigational

Phase 4

1174395-19-7

2

Immunologic Factors

Phase 4

3

Dermatologic Agents

Phase 4

4

Immunosuppressive Agents

Phase 4

5

Infliximab

Approved

Phase 3

170277-31-3

6

Ixekizumab

Approved, Investigational

Phase 2

1143503-69-8

7

Interleukin-23

Phase 2

8

Antibodies, Monoclonal

Phase 2

9

Immunoglobulins

Phase 2

10

Antibodies

Phase 2

11

Miconazole

Approved, Investigational, Vet_approved

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An Extension Study of Brodalumab in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma	Completed	NCT04183881	Phase 4	Brodalumab 210mg SC
2	A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris.	Terminated	NCT00815633	Phase 4	Alefacept
3	An Extension Study of KHK4827 in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma	Completed	NCT02052609	Phase 3	KHK4827 140mg SC;KHK4827 210mg SC
4	A Clinical Study of Increased Dose of TA-650 in Patients With Psoriasis	Completed	NCT01680159	Phase 3	TA-650
5	An Open Label Pilot Trial of Guselkumab in the Treatment of Adults With Pityriasis Rubra Pilaris (PRP)	Recruiting	NCT03975153	Phase 2
6	Ixekizumab in the Treatment of Pityriasis Rubra Pilaris (PRP)	Active, not recruiting	NCT03485976	Phase 2	Ixekizumab
7	A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses	Active, not recruiting	NCT03041038	Phase 2	Secukinumab;Placebo
8	Cosentyx (Secukinumab) for the Treatment of Adult Onset Pityriasis Rubra Pilaris: A Single Arm, Open-label Exploratory Trial	Enrolling by invitation	NCT03342573	Phase 1	Cosentyx
9	Compare the Results for the Extended Myoectomy and Standard Morrow's Myoectomy in Patients With Ventricular Obstruction of the Left Ventricular Output	Unknown status	NCT02492399
10	Analysis of Killer Immunoglobulin-like Receptor Transcripts Expression for the Diagnosis of Epidermotropic Cutaneous T-cell Lymphomas (Mycosis Fungoid and Sézary Syndrome) in Patients With Erythroderma or Erythematous Patches/Plaques.	Completed	NCT00748319

Search NIH Clinical Center for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige

Cochrane evidence based reviews: dermatitis, exfoliative

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Genetic Tests for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Genetic tests related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

#	Genetic test	Affiliating Genes
1	Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige ²⁹	DSG1

Sources

Anatomical Context for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards organs/tissues related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

⁴⁰

Skin, T Cells, Brain, Heart, Lung

Sources

Publications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Articles related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

(show all 14)

#	Title	Authors	PMID	Year
1	Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. ⁶¹ ⁵⁶ ⁶	Samuelov L...Sprecher E	23974871	2013
2	The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome. ⁶¹	Cohen-Barak E...Green KJ	31465738	2019
3	Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin. ⁶¹	Liang J...Yao Z	31106887	2019
4	Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. ⁶¹	Vakkilainen S...Hannula-Jouppi K	31037311	2019
5	Sinobronchial allergic mycosis syndrome in an elderly male. ⁶¹	Mochizuki E...Nameki I	31171926	2019
6	SAM syndrome is characterized by extensive phenotypic heterogeneity. ⁶¹	Taiber S...Sprecher E	29604126	2018
7	Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting). ⁶¹	Danescu S...Has C	27632246	2017
8	Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation. ⁶¹	Cheng R...Yao Z	27154412	2016
9	Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome. ⁶¹	Schlipf NA...Fischer J	26288349	2016
10	[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)]. ⁶¹	Dereure O	26169895	2015
11	Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. ⁶¹	McAleer MA...Irvine AD	26073755	2015
12	Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. ⁶¹	Has C...Bruckner-Tuderman L	25041099	2015
13	Genetic skin diseases related to desmosomes and corneodesmosomes. ⁶¹	Ishida-Yamamoto A...Igawa S	24636350	2014
14	Sinobronchial allergic mycosis: the SAM syndrome. ⁶¹	Venarske DL...deShazo RD	12006459	2002

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Genes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Genes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DSG1	Desmoglein 1	Protein Coding	1369.08	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23974871
2	DSP	Desmoplakin	Protein Coding	350	Causative germline mutation ⁵⁸
3	DSG1-AS1	DSG1 Antisense RNA 1	RNA Gene	8.41	GeneCards inferred via : Variants (show sections)

Sources

Variations for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

ClinVar genetic disease variations for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DSG1	NM_001942.4(DSG1):c.49-1G>A	SNV	Pathogenic	88661	rs398122952	18:28906543-28906543	18:31326580-31326580
2	DSG1	NM_001942.4(DSG1):c.1861del (p.Ala621fs)	deletion	Pathogenic	88662	rs398122400	18:28923928-28923928	18:31343965-31343965

Sources

Expression for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Search GEO for disease gene expression data for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige.

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Pathways for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Pathways related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	11.41	DSP DSG1
2	Apoptotic cleavage of cellular proteins ⁶⁵ Show member pathways Apoptotic cleavage of cell adhesion proteins ⁶⁵ Apoptotic execution phase ⁶⁵ Caspase-mediated cleavage of cytoskeletal proteins ⁶⁵	10.69	DSP DSG1

Sources

GO Terms for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Cellular components related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell junction	GO:0005911	9.26	DSP DSG1
2	ficolin-1-rich granule membrane	GO:0101003	9.16	DSP DSG1
3	cornified envelope	GO:0001533	8.96	DSP DSG1
4	desmosome	GO:0030057	8.62	DSP DSG1

Biological processes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	9.26	DSP DSG1
2	keratinization	GO:0031424	9.16	DSP DSG1
3	cell-cell adhesion	GO:0098609	8.96	DSP DSG1
4	cornification	GO:0070268	8.62	DSP DSG1

Sources

Sources for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (EPKHE)

Aliases & Classifications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards integrated aliases for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Related Diseases for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Symptoms & Phenotypes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Human phenotypes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Drugs for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: dermatitis, exfoliative

Genetic Tests for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Genetic tests related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Anatomical Context for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards organs/tissues related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Publications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Articles related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Genes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Genes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (2 elite genes):

Variations for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

ClinVar genetic disease variations for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Expression for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Pathways for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Pathways related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

GO Terms for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Cellular components related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

Biological processes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

Sources for Erythroderma, Congenital, with Palmoplantar Keratoderma,...