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MCID: CNG008
MIFTS: 49

Congenital Ichthyosiform Erythroderma (LI) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Congenital Ichthyosiform Erythroderma

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. the eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. the condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases). last updated: 6/23/2011

MalaCards: Congenital Ichthyosiform Erythroderma, also known as nonbullous congenital ichthyosiform erythroderma, is related to epidermolytic hyperkeratosis and ichthyosis bullosa of siemens. An important gene associated with Congenital Ichthyosiform Erythroderma is KRT1 (keratin 1), and among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM and Cytoskeleton remodeling Keratin filaments. The compounds 12(r)-hpete and tazarotene have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and testes, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

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.

Wikipedia:65 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... more...

Description from OMIM:47 242100

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 47OMIM, 35MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


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 62
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 62
ichthyosiform erythroderma congenital 45
ichthyosiform erythroderma 8
collodion baby syndrome 21
congenital ichthyosis 62
ichthyoses, lamellar 21
ichthyosis, lamellar 21
collodion baby 21
alligator skin 8
nbcie 43
ncie 43
cie 43
li 21


Related Diseases for Congenital Ichthyosiform Erythroderma

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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 85)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis31.1TGM1, KRT2, KRT1
2ichthyosis bullosa of siemens30.8KRT2
3epidermolysis bullosa simplex30.3KRT2, KRT1
4keratoderma30.3KRT1, TGM1
5psoriasis30.3KRT1, TGM1
6autosomal recessive congenital ichthyosis30.1ALOX12B, ALOXE3, TGM1
7ectropion10.6
8congenital hemidysplasia with ichthyosiform erythroderma and limb defects10.6
9palmoplantar keratoderma, epidermolytic10.5
10ichthyosis with confetti10.4
11cicatricial ectropion10.4
12ichthyosiform erythroderma, corneal involvement, deafness10.4
13ichthyosis vulgaris10.4
14rickets10.4
15netherton syndrome10.4
16ichthyosis, congenital, autosomal recessive 210.4
17pseudoainhum10.4
18gaucher's disease10.3
19pityriasis rubra pilaris10.3
20basal cell carcinoma10.3
21spastic quadriplegia10.2
22mycosis fungoides10.2
23quadriplegia10.2
24fibrous histiocytoma10.2
25black piedra10.2
26noonan syndrome10.2
27ocular albinism10.2
28cholesteatoma10.2
29dermatitis10.2
30epidermolysis bullosa10.2
31histiocytoma10.2
32keratitis10.2
33keratosis10.2
34melanoma10.2
35sarcoma10.2
36seborrheic keratosis10.2
37albinism10.2
38exfoliative dermatitis10.2
39ichthyosis hystrix gravior10.2
40pili torti10.2
41krt1-related epidermolytic hyperkeratosis10.2
42krt10-related epidermolytic hyperkeratosis10.2
43epidermal nevus10.2
44spasticity10.2
45ichthyosis, congenital, autosomal recessive 4a10.2
46ichthyosis, autosomal recessive 4b10.2
47ichthyosis, congenital, autosomal recessive 610.2
48ichthyosis, congenital, autosomal recessive 1010.2
49ichthyosis, congenital, autosomal recessive 810.2
50ichthyosis, congenital, autosomal recessive 1110.2

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



Diseases related to congenital ichthyosiform erythroderma

Symptoms for Congenital Ichthyosiform Erythroderma

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47OMIM
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Clinical features from OMIM:

242100

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Ichthyosiform Erythroderma

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma

Genetic Tests for Congenital Ichthyosiform Erythroderma

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Anatomical Context for Congenital Ichthyosiform Erythroderma

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

33
Skin, Kidney, Testes

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.2KRT1, ALOX12B, ALOXE3, TGM1
2MP:00053767.9TGM1, ALOXE3, ALOX12B, KRT1
3MP:00107717.4KRT1, KRT2, ALOX12B, ALOXE3, TGM1

Publications for Congenital Ichthyosiform Erythroderma

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52PubMed
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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 106)
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 with rickets: a rare association. (24320759)
2013
4
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
5
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. (21352327)
2011
6
Bullous congenital ichthyosiform erythroderma. (22253153)
2011
7
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
8
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
2009
9
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. (18435726)
2009
10
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
11
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
12
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
13
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
14
Bullous congenital ichthyosiform erythroderma of Brocq. (17973888)
2007
15
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. (17909341)
2007
16
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. (17596149)
2007
17
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
18
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
19
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (16361731)
2005
20
DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. (15583602)
2004
21
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
22
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
2003
23
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
24
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
25
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
26
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
27
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
28
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. (11204523)
2000
29
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
30
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
1999
31
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
32
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
1998
33
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
1994
34
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
35
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
36
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
37
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
38
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
39
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
1983
40
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
41
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
42
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
43
Congenital ichthyosiform erythroderma. (5923456)
1966
44
Congenital ichthyosiform erythroderma treated by hypnosis. (5907436)
1966
45
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. (13767211)
1961
46
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
1958
47
Bullous congenital ichthyosiform erythroderma. (13050146)
1953
48
Congenital ichthyosiform erythroderma. (14782713)
1950
49
Congenital ichthyosiform erythroderma. (14770554)
1950
50
Primary exfoliative dermatitis; Leiner's disease; congenital ichthyosiform erythroderma. (18886309)
1948

Variations for Congenital Ichthyosiform Erythroderma

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Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

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2BioGPS, 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

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50PathCards, 60Thomson Reuters
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Pathways related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ALOX12B, ALOXE3
29.4KRT1, KRT2

Compounds for genes affiliated with Congenital Ichthyosiform Erythroderma

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Congenital Ichthyosiform Erythroderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete45 2410.5ALOX12B, ALOXE3
2tazarotene45 1110.5KRT1, KRT2
3sodium dodecylsulfate459.1TGM1, KRT1
4lipid458.7KRT1, ALOXE3, TGM1
5retinoid458.6KRT1, KRT2, TGM1
6retinoic acid45 249.3KRT1, KRT2, TGM1

GO Terms for genes affiliated with Congenital Ichthyosiform Erythroderma

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

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.1KRT1, KRT2
2extracellular vesicular exosomeGO:0700628.6KRT1, KRT2, TGM1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:0511229.6ALOXE3, ALOX12B
2establishment of skin barrierGO:0614369.6ALOXE3, ALOX12B
3linoleic acid metabolic processGO:0436519.5ALOXE3, ALOX12B
4lipoxygenase pathwayGO:0193729.5ALOXE3, ALOX12B
5ceramide biosynthetic processGO:0465139.4ALOXE3, ALOX12B
6sphingolipid metabolic processGO:0066659.4ALOXE3, ALOX12B
7arachidonic acid metabolic processGO:0193699.1ALOXE3, ALOX12B
8keratinizationGO:0314248.9KRT2, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.4ALOX12B, ALOXE3
2oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:0167029.1ALOX12B, ALOXE3

Products for genes affiliated with Congenital Ichthyosiform Erythroderma

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Sources for Congenital Ichthyosiform Erythroderma

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4CDC
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14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
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48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
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