LI
MCID: CNG008
MIFTS: 51

Congenital Ichthyosiform Erythroderma (LI) malady

Skin category

Summaries for Congenital Ichthyosiform Erythroderma

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 palmoplantar keratoderma, epidermolytic. 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 and kidney, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

NIH Rare Diseases:43 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:64 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... more...

Description from OMIM:47 242100

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 21Genetics Home Reference, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 47OMIM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

congenital ichthyosiform erythroderma 8 43 10
nonbullous congenital ichthyosiform erythroderma 8 43 21
lamellar ichthyosis 8 43 21
ichthyosiform erythroderma, congenital, nonbullous, 1 43 61
ichthyosiform erythroderma, brocq congenital, nonbullous form 43
congenital non bullous ichthyosiform erythroderma 8
ichthyosiform erythroderma nonbullous congenital 45
congenital nonbullous ichthyosiform erythroderma 21
ichthyosiform erythroderma, congenital 61
ichthyosiform erythroderma congenital 45
ichthyosiform erythroderma 8
collodion baby syndrome 21
congenital ichthyosis 61
ichthyoses, lamellar 21
ichthyosis, lamellar 21
alligator skin 8
collodion baby 21
nbcie 43
cie 43
li 21


Related Diseases for Congenital Ichthyosiform Erythroderma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Congenital Ichthyosiform Erythroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 254)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis31.1KRT10, KRT1
2palmoplantar keratoderma, epidermolytic30.6KRT9, KRT1
3netherton syndrome30.5TGM1, SPINK5
4ichthyosis vulgaris30.5TGM1, FLG, LOR
5autosomal recessive congenital ichthyosis30.5NIPAL4, ABCA12, ALOX12B, ALOXE3, TGM1
6ichthyosis bullosa of siemens30.3KRT2
7keratoderma30.3LOR, KRT1, KRT9, TGM1
8epidermolysis bullosa simplex30.3KRT1, KRT81, KRT2, KRT10, KRT9, KRT5
9squamous cell carcinoma30.3LOX, FLG, KRT5, KRT1, KRT10, ALOX15B
10x-linked ichthyosis29.9FLG
11harlequin type ichthyosis29.9TGM1, ABCA12, FLG
12li-fraumeni syndrome10.7
13congenital hemidysplasia with ichthyosiform erythroderma and limb defects10.6
14n syndrome10.5
15cicatricial ectropion10.4
16rickets10.4
17ichthyosis, congenital, autosomal recessive 210.4
18ichthyosiform erythroderma, corneal involvement, deafness10.4
19ichthyosis with confetti10.4
20ichthyosis lamellar 210.3
21pseudoainhum10.3
22mental retardation10.3
23acral self-healing collodion baby10.3
24cataract and congenital ichthyosis10.3
25pityriasis rubra pilaris10.3
26basal cell carcinoma10.3
27ichthyosis lamellar 310.3
28spastic quadriplegia10.2
29dyskeratosis congenita10.2
30quadriplegia10.2
31fibrous histiocytoma10.2
32cutaneous fibrous histiocytoma10.2
33black piedra10.2
34noonan syndrome10.2
35ocular albinism10.2
36mycosis fungoides10.2
37albinism10.2
38leiner disease10.2
39pili torti10.2
40exfoliative dermatitis10.2
41ichthyosis hystrix gravior10.2
42pleomorphic malignant fibrous histiocytoma10.2
43krt1-related epidermolytic hyperkeratosis10.2
44krt10-related epidermolytic hyperkeratosis10.2
45epidermal nevus10.2
46ichthyosis, congenital, autosomal recessive 4a10.2
47ichthyosis, autosomal recessive 4b10.2
48ichthyosis, congenital, autosomal recessive 610.2
49ichthyosis, congenital, autosomal recessive 1010.2
50ichthyosis, congenital, autosomal recessive 810.2

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



Diseases related to congenital ichthyosiform erythroderma

Clinical Features for Congenital Ichthyosiform Erythroderma

Sources:
47OMIM
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Clinical features from OMIM:

242100

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Ichthyosiform Erythroderma

Anatomical Context for Congenital Ichthyosiform Erythroderma

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

33
Skin, Kidney

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

37
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

Sources:
51PubMed
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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
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
3
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. (22257947)
2012
4
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. (20222929)
2010
5
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
6
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
2009
7
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
8
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
9
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
10
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. (18429807)
2008
11
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. (17587848)
2007
12
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (17508018)
2007
13
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
14
Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. (15953088)
2005
15
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
16
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
17
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. (12636025)
2003
18
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. (11990254)
2002
19
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
20
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
21
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
22
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (11251583)
2001
23
Progressive macular leucoderma in a patient with congenital ichthyosiform erythroderma. (11422068)
2001
24
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (11531804)
2001
25
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
26
Congenital ichthyosiform erythroderma: particulate staining pattern of TGK. (10659499)
1999
27
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
28
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. (9036939)
1997
29
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
30
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. (7678607)
1993
31
Generalized Trichophyton rubrum infection in congenital ichthyosiform erythroderma. (2490271)
1989
32
The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies. (3192951)
1988
33
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
34
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. (3977371)
1985
35
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
1983
36
Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. (6175146)
1982
37
Congenital ichthyosiform erythroderma, bullous type [proceedings]. (346399)
1978
38
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
39
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
40
Congenital bullous ichthyosiform erythroderma. Epidermolytic hyperkeratosis--treatment with methotrexate. (5444075)
1970
41
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
42
The use of retinoic acid in congenital ichthyosiform erythroderma. (5783771)
1969
43
Nonbullous congenital ichthyosiform erythroderma: a case treated with methotrexate. (5635474)
1968
44
Congenital ichthyosiform erythroderma. (5923456)
1966
45
Congenital ichthyosiform erythroderma treated by hypnosis. (5907436)
1966
46
NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY. (14070837)
1964
47
Vitamin B12 in the treatment of congenital ichthyosiform erythroderma. (13532350)
1958
48
Congenital ichthyosiform erythroderma. (14818437)
1951
49
Congenital ichthyosiform erythroderma; a report of two cases in siblings, one complicated by Kaposi's varicelliform eruption. (14867887)
1951
50
Congenital Ichthyosiform Erythroderma or Psoriasis (?). (19987796)
1930

Genetic Variations for Congenital Ichthyosiform Erythroderma

Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 12EMD Millipore, 30KEGG
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Compounds for genes affiliated with Congenital Ichthyosiform Erythroderma

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
112(r)-hpete45 2411.5ALOXE3, ALOX12B
2collodion4510.4TGM1, LOR
3tazarotene45 1111.3KRT1, KRT2, KRT10
4epsilon-(gamma-glutamyl)lysine4510.3TGM1, LOR
5dithranol4510.2KRT10, FLG
6calcipotriol45 60 29 1113.2TGM1, KRT10, KRT5, FLG
7isoleucine4510.1LOX, KRT1, KRT10
8hematoxylin4510.1LOR, FLG, KRT1, KRT10
9gf 109203x45 6011.0FLG, KRT10, TGM1
10bromodeoxyuridine459.9FLG, KRT1, KRT10
11urea45 11 2411.9KRT5, FLG, LOX
12retinoid459.8FLG, KRT5, KRT1, KRT2, KRT10, TGM1
13lysine459.8KRT2, KRT1, KRT5, LOX
14paraffin459.7LOX, KRT5, KRT1, KRT10, ALOX15B
15arginine459.6TGM1, KRT9, KRT10, KRT1, KRT5, FLG
16histidine459.6LOR, LOX, FLG, KRT5, KRT10, KRT9
17steroid459.6LOR, FLG, KRT1, KRT10, ALOX15B, TGM1
18arachidonic acid45 29 11 2412.5LOX, CYP4F8, ALOX12B, ALOX15B, ALOXE3
19proline459.5KRT10, KRT1, KRT5, LOR
20retinoic acid45 2410.4LOR, LOX, FLG, KRT5, KRT1, KRT2
21lipid459.0LOR, LOX, NSDHL, FLG, ABHD5, ABCA12

GO Terms for genes affiliated with Congenital Ichthyosiform Erythroderma

Sources:
16Gene Ontology
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Cellular components related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00153310.1TGM1, LOR
2keratin filamentGO:0450959.5KRT10, KRT2, KRT81, KRT1, KRT5
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:0052009.7KRT9, KRT2, KRT5, LOR
3structural molecule activityGO:0051989.5KRT81, KRT1, FLG, LOR
4iron ion bindingGO:0055069.5CYP4F8, ALOX12B, ALOX15B, ALOXE3

Products for genes affiliated with Congenital Ichthyosiform Erythroderma

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Sources for Congenital Ichthyosiform Erythroderma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet