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MCID: CNG008
MIFTS: 53

Congenital Ichthyosiform Erythroderma (LI) malady

Skin diseases category

Summaries for Congenital Ichthyosiform Erythroderma

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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 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

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 21Genetics Home Reference, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 25ICD10
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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

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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 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

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46OMIM
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Clinical features from OMIM:

242100

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Ichthyosiform Erythroderma

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Anatomical Context for Congenital Ichthyosiform Erythroderma

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32MalaCards
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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

32
Skin, Kidney, Testes

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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36MGI
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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

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50PubMed
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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
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
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. (19635120)
2009
8
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. (19689541)
2009
9
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
10
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
11
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
12
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. (18498407)
2008
13
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. (18429807)
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
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. (17587848)
2007
17
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (17508018)
2007
18
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
19
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
20
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
21
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (11773004)
2002
22
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
23
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (11251583)
2001
24
Progressive macular leucoderma in a patient with congenital ichthyosiform erythroderma. (11422068)
2001
25
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
26
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
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
A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. (8949442)
1996
30
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
31
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. (7678607)
1993
32
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
33
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
34
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
1983
35
Normal sweating and tear production in congenital ichthyosiform erythroderma with deafness and keratitis. (6175146)
1982
36
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (6985700)
1980
37
Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE). (160775)
1979
38
Oral retinoic acid as therapy for congenital ichthyosiform erythroderma. (1096928)
1975
39
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
40
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
41
Congenital bullous ichthyosiform erythroderma. Epidermolytic hyperkeratosis--treatment with methotrexate. (5444075)
1970
42
An ichthyosiform dermatosis with clinical forms of congenital ichthyosiform erythroderma and ichthyosis vulgaris. (5808058)
1969
43
The use of retinoic acid in congenital ichthyosiform erythroderma. (5783771)
1969
44
Congenital ichthyosiform erythroderma. (5923456)
1966
45
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA. CLINICAL & HISTOPATHOLOGICAL STUDY OF THIS DISEASE IN THE U.A.R. WITH REVIEW OF THE LITERATURE. (14162096)
1963
46
Vitamin B12 in the treatment of congenital ichthyosiform erythroderma. (13532350)
1958
47
Congenital ichthyosiform erythroderma. (14818437)
1951
48
Congenital ichthyosiform erythroderma. (14782713)
1950
49
Congenital ichthyosiform erythroderma. (14770554)
1950
50
Congenital Ichthyosiform Erythroderma or Psoriasis (?). (19987796)
1930

Genetic Variations for Congenital Ichthyosiform Erythroderma

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Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Ichthyosiform Erythroderma

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Pathways for genes affiliated with Congenital Ichthyosiform Erythroderma

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53Reactome, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Congenital Ichthyosiform Erythroderma

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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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

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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
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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3CDC
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26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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