LI
MCID: CNG008
MIFTS: 53

Congenital Ichthyosiform Erythroderma (LI) malady

Skin diseases category

Summaries for Congenital Ichthyosiform Erythroderma

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life, but remaining effects include scaly skin and outward turning eyelids and lips. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin. Affected individuals may also have hair loss (alopecia), a decreased ability to sweat (hypohidrosis), and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures). Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.

MalaCards: Congenital Ichthyosiform Erythroderma, also known as nonbullous congenital ichthyosiform erythroderma, is related to epidermolytic hyperkeratosis and ectropion. An important gene associated with Congenital Ichthyosiform Erythroderma is KRT1 (keratin 1), and among its related pathways are Synthesis of Prostaglandins (PG) and Thromboxanes (TX) and Synthesis of 15-eicosatetraenoic acid derivatives. The compounds 12(r)-hpete and collodion have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and testes, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

NIH Rare Diseases:42 Nonbullous congenital ichthyosiform erythroderma (nbcie) is a specific type of ichthyosis mainly affecting the skin. most infants with nbcie are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). some people with nbcie also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). nbcie may be caused by mutations in any one of at least three genes: alox12b, aloxe3 or nipal4. in some people with nbcie, the cause of the disorder is unknown. last updated: 10/7/2011

Wikipedia:63 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... more...

Description from OMIM:46 242100

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 21Genetics Home Reference, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

congenital ichthyosiform erythroderma 8 42 10
nonbullous congenital ichthyosiform erythroderma 8 42 21
lamellar ichthyosis 8 42 21
ichthyosiform erythroderma, congenital, nonbullous, 1 42 60
ichthyosiform erythroderma, brocq congenital, nonbullous form 42
congenital non bullous ichthyosiform erythroderma 8
ichthyosiform erythroderma nonbullous congenital 44
congenital nonbullous ichthyosiform erythroderma 21
ichthyosiform erythroderma, congenital 60
ichthyosiform erythroderma congenital 44
ichthyosiform erythroderma 8
collodion baby syndrome 21
congenital ichthyosis 60
ichthyoses, lamellar 21
ichthyosis, lamellar 21
alligator skin 8
collodion baby 21
nbcie 42
cie 42
li 21


Related Diseases for Congenital Ichthyosiform Erythroderma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Congenital Ichthyosiform Erythroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 266)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis31.1KRT10, KRT1
2ectropion30.9ABCA12, TGM1
3palmoplantar keratoderma, epidermolytic30.6KRT9, KRT1
4netherton syndrome30.5TGM1, SPINK5
5ichthyosis vulgaris30.5TGM1, FLG, LOR
6autosomal recessive congenital ichthyosis30.5NIPAL4, ABCA12, ALOX12B, ALOXE3, TGM1
7x-linked ichthyosis30.3FLG
8ichthyosis bullosa of siemens30.2KRT2
9epidermolysis bullosa30.2KRT5, FLG
10dermatitis30.2LOR, FLG
11cholesteatoma30.2KRT10, FLG
12keratosis30.2KRT10, KRT1, FLG, LOR
13epidermolysis bullosa simplex30.2KRT1, KRT81, KRT2, KRT10, KRT9, KRT5
14squamous cell carcinoma30.2LOX, FLG, KRT5, KRT1, KRT10, ALOX15B
15psoriasis30.2LOR, LOX, FLG, CYP4F8, KRT5, KRT1
16ichthyosis, cyclic, with epidermolytic hyperkeratosis30.1KRT1, KRT10
17harlequin type ichthyosis30.1TGM1, ABCA12, FLG
18meningioma29.9KRT1
19li-fraumeni syndrome11.0
20congenital hemidysplasia with ichthyosiform erythroderma and limb defects10.6
21ichthyosis with confetti10.4
22cicatricial ectropion10.4
23ichthyosiform erythroderma, corneal involvement, deafness10.3
24rickets10.3
25ichthyosis, congenital, autosomal recessive 210.3
26gaucher's disease10.3
27breast cancer10.3
28hypertension10.3
29cataract and congenital ichthyosis10.3
30pityriasis rubra pilaris10.2
31basal cell carcinoma10.2
32ichthyosis, spastic quadriplegia, and mental retardation10.2
33spastic quadriplegia10.2
34dyskeratosis congenita10.2
35quadriplegia10.2
36fibrous histiocytoma10.2
37cutaneous fibrous histiocytoma10.2
38black piedra10.2
39noonan syndrome10.2
40ocular albinism10.2
41mycosis fungoides10.2
42hair disease10.2
43histiocytoma10.2
44keratitis10.2
45melanoma10.2
46sarcoma10.2
47seborrheic keratosis10.2
48skin melanoma10.2
49albinism10.2
50ichthyosis hystrix gravior10.2

Graphical network of the top 20 diseases related to Congenital Ichthyosiform Erythroderma:



Diseases related to congenital ichthyosiform erythroderma

Clinical Features for Congenital Ichthyosiform Erythroderma

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

242100

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Ichthyosiform Erythroderma

Drug clinical trials:

Search ClinicalTrials for Congenital Ichthyosiform Erythroderma

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma

Search CenterWatch for Congenital Ichthyosiform Erythroderma

Genetic Tests for Congenital Ichthyosiform Erythroderma

About this section

Anatomical Context for Congenital Ichthyosiform Erythroderma

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

32
Skin, Kidney, Testes

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3LOX, NSDHL, FLG, ABHD5, ABCA12, KRT1
2MP:00107687.8ABCA12, ABHD5, FLG, NSDHL, LOX, KRT5
3MP:00107717.7TGM1, LOR, LOX, NSDHL, FLG, ABHD5

Publications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
50PubMed
See all sources

Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
2013
2
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. (23182068)
2013
3
Bullous congenital ichthyosiform erythroderma. (22253153)
2011
4
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. (21700545)
2011
5
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. (20222929)
2010
6
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
7
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
8
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
9
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (17508018)
2007
10
Multicystic dysplastic kidney in association with congenital ichthyosiform erythroderma. (19363284)
2007
11
Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. (15953088)
2005
12
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. (15347338)
2004
13
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
14
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
15
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. (12636025)
2003
16
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. (11990254)
2002
17
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
18
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
19
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (11531804)
2001
20
A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma. (11407994)
2001
21
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
22
Congenital ichthyosiform erythroderma: particulate staining pattern of TGK. (10659499)
1999
23
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
1998
24
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. (9856846)
1998
25
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
1994
26
Congenital ichthyosiform erythroderma and epidermal nevus. (2050459)
1991
27
Re-expression of disease-characteristic features of non-bullous congenital ichthyosiform erythroderma (CIE) after grafting of the pathological keratinocyte cultures to athymic mice. (2466063)
1989
28
Generalized Trichophyton rubrum infection in congenital ichthyosiform erythroderma. (2490271)
1989
29
The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies. (3192951)
1988
30
Lindane neurotoxic reaction in nonbullous congenital ichthyosiform erythroderma. (2443081)
1987
31
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
32
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. (3977371)
1985
33
Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. (3977372)
1985
34
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
35
Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. (6175146)
1982
36
Congenital ichthyosiform erythroderma, bullous type [proceedings]. (346399)
1978
37
Bullous congenital ichthyosiform erythroderma. (4697692)
1973
38
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
39
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
40
Nonbullous congenital ichthyosiform erythroderma: a case treated with methotrexate. (5635474)
1968
41
Congenital ichthyosiform erythroderma. (5923456)
1966
42
Congenital ichthyosiform erythroderma treated by hypnosis. (5907436)
1966
43
VARIATIONS OF CONGENITAL. ICHTHYOSIFORM ERYTHRODERMA. REPORT OF CASES OF ICHTHYOSIS HYSTRIX AND NEVUS UNIS LATERIS. (14237590)
1965
44
NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY. (14070837)
1964
45
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. (13767211)
1961
46
Dyskeratosis ichthyosiformis congenita migrans: a variant of congenital ichthyosiform erythroderma. (13582209)
1958
47
Bullous congenital ichthyosiform erythroderma. (13050146)
1953
48
Congenital ichthyosiform erythroderma; a report of two cases in siblings, one complicated by Kaposi's varicelliform eruption. (14867887)
1951
49
Primary exfoliative dermatitis; Leiner's disease; congenital ichthyosiform erythroderma. (18886309)
1948
50
Congenital Ichthyosiform Erythroderma or Psoriasis (?). (19987796)
1930

Genetic Variations for Congenital Ichthyosiform Erythroderma

About this section

Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Ichthyosiform Erythroderma

Search GEO for disease gene expression data for Congenital Ichthyosiform Erythroderma.

Pathways for genes affiliated with Congenital Ichthyosiform Erythroderma

About this section
Sources:
53Reactome, 12EMD Millipore, 29KEGG
See all sources

Compounds for genes affiliated with Congenital Ichthyosiform Erythroderma

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
112(r)-hpete44 2411.5ALOXE3, ALOX12B
2collodion4410.4TGM1, LOR
3tazarotene44 1111.3KRT1, KRT2, KRT10
4epsilon-(gamma-glutamyl)lysine4410.3TGM1, LOR
5dithranol4410.2KRT10, FLG
6calcipotriol44 59 28 1113.2TGM1, KRT10, KRT5, FLG
7isoleucine4410.1LOX, KRT1, KRT10
8hematoxylin4410.1LOR, FLG, KRT1, KRT10
9gf 109203x44 5911.0FLG, KRT10, TGM1
10bromodeoxyuridine449.9FLG, KRT1, KRT10
11urea44 11 2411.9KRT5, FLG, LOX
12retinoid449.8FLG, KRT5, KRT1, KRT2, KRT10, TGM1
13lysine449.8KRT2, KRT1, KRT5, LOX
14paraffin449.7LOX, KRT5, KRT1, KRT10, ALOX15B
15arginine449.6TGM1, KRT9, KRT10, KRT1, KRT5, FLG
16histidine449.6LOR, LOX, FLG, KRT5, KRT10, KRT9
17steroid449.6LOR, FLG, KRT1, KRT10, ALOX15B, TGM1
18arachidonic acid44 28 11 2412.5LOX, CYP4F8, ALOX12B, ALOX15B, ALOXE3
19proline449.5KRT10, KRT1, KRT5, LOR
20retinoic acid44 2410.4LOR, LOX, FLG, KRT5, KRT1, KRT2
21lipid449.0LOR, LOX, NSDHL, FLG, ABHD5, ABCA12

GO Terms for genes affiliated with Congenital Ichthyosiform Erythroderma

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00153310.1LOR, TGM1
2keratin filamentGO:0450959.5KRT5, KRT1, KRT81, KRT2, KRT10
3intermediate filamentGO:0058829.3FLG, KRT5, KRT2, KRT10, KRT9

Biological processes related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:01814910.1TGM1, LOR
2establishment of skin barrierGO:06143610.1ALOXE3, ALOX12B, ABCA12
3linoleic acid metabolic processGO:04365110.1ALOXE3, ALOX12B
4hepoxilin biosynthetic processGO:05112210.1ALOXE3, ALOX15B, ALOX12B
5lipoxygenase pathwayGO:01937210.0ALOX12B, ALOX15B, ALOXE3
6keratinocyte differentiationGO:0302169.9TGM1, KRT10, FLG, LOR
7arachidonic acid metabolic processGO:0193699.9ALOXE3, ALOX15B, ALOX12B
8epidermis developmentGO:0085449.9KRT5, KRT2, KRT9
9keratinizationGO:0314249.9LOR, ABCA12, KRT2, TGM1
10ceramide biosynthetic processGO:0465139.9ALOXE3, ALOX12B

Molecular functions related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:01670210.2ALOXE3, ALOX12B
2structural constituent of cytoskeletonGO:0052009.7LOR, KRT9, KRT2, KRT5
3structural molecule activityGO:0051989.5KRT81, LOR, FLG, KRT1
4iron ion bindingGO:0055069.5CYP4F8, ALOX12B, ALOX15B, ALOXE3

Products for genes affiliated with Congenital Ichthyosiform Erythroderma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Ichthyosiform Erythroderma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet