MCID: CNG008
MIFTS: 55

Congenital Ichthyosiform Erythroderma malady

Rare diseases, Eye diseases, Skin diseases categories

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 21Genetics Home Reference, 47Orphanet, 60UMLS, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Congenital Ichthyosiform Erythroderma, Aliases & Descriptions:

Name: Congenital Ichthyosiform Erythroderma 9 41 11
Lamellar Ichthyosis 9 41 21 47
Nonbullous Congenital Ichthyosiform Erythroderma 9 41 21
Cie 41 47
Li 21 47
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 41
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 41
Congenital Non Bullous Ichthyosiform Erythroderma 9
Non-Bullous Congenital Ichthyosiform Erythroderma 47
Congenital Non-Bullous Ichthyosiform Erythroderma 47
Congenital Nonbullous Ichthyosiform Erythroderma 21
Ichthyosiform Erythroderma Nonbullous Congenital 43
Ichthyosiform Erythroderma, Congenital 60
Ichthyosiform Erythroderma Congenital 43
Ichthyosis--Cheek--Eyebrow Syndrome 60
 
Iridocorneal Endothelial Syndrome 41
Congenital Lamellar Ichthyosis 47
Classic Lamellar Ichthyosis 47
Ichthyosiform Erythroderma 9
Erythrodermic Ichthyosis 47
Collodion Baby Syndrome 21
Ichthyosis, Lamellar 21
Ichthyoses, Lamellar 21
Collodion Fetus 60
Alligator Skin 9
Collodion Baby 21
Ice Syndrome 41
Nbcie 41
Ncie 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
lamellar ichthyosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood
cie:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology9 DOID:1699
NCIt38 C84805
MeSH33 D017490
Orphanet47 313, 79394
MESH via Orphanet34 D017490
ICD10 via Orphanet26 Q80.2
UMLS via Orphanet61 C0079154
ICD1025 Q80.2

Summaries for Congenital Ichthyosiform Erythroderma

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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 usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, 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).

MalaCards based summary: Congenital Ichthyosiform Erythroderma, also known as lamellar ichthyosis, is related to epidermolytic hyperkeratosis and ectropion, and has symptoms including abnormality of the eyelid, dry skin and hyperkeratosis. An important gene associated with Congenital Ichthyosiform Erythroderma is ALOX12B (arachidonate 12-lipoxygenase, 12R type), and among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM and Cytoskeleton remodeling Keratin filaments. The compounds 12(r)-hpete and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and eye, and related mouse phenotypes are homeostasis/metabolism and craniofacial.

NIH Rare Diseases:41 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

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

Related Diseases for Congenital Ichthyosiform Erythroderma

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis31.8KRT10, KRT1
2ectropion31.4TGM1, ABCA12
3ichthyosis bullosa of siemens31.4KRT2
4ichthyosis vulgaris31.1TGM1, FLG
5ichthyosis, x-linked31.0FLG
6keratoderma30.9KRT1, TGM1
7ichthyosis, autosomal recessive 4b30.8FLG, TGM1, ABCA12
8ichthyosis, cyclic, with epidermolytic hyperkeratosis30.8KRT10, KRT1
9epidermolysis bullosa30.7FLG, KRT5
10keratosis30.7KRT1, KRT10, FLG
11ichthyosis lamellar 130.7TGM1, FLG, ALOXE3, ALOX12B, KRT10
12cholesteatoma30.6KRT10, FLG
13psoriasis30.3TGM1, FLG, KRT10, KRT1, KRT5
14epidermolysis bullosa simplex30.1KRT5, KRT1, KRT10, KRT2, KRT81, FLG
15iridocorneal endothelial syndrome11.2
16endotheliitis11.2
17epidermolytic acanthoma10.5KRT1
18ichthyosiform erythroderma, corneal involvement, deafness10.5
19cicatricial ectropion10.4
20ichthyosis, congenital, autosomal recessive 4a10.4
21netherton syndrome10.4
22ichthyosis, congenital, autosomal recessive 1110.4
23ichthyosis, congenital, autosomal recessive 110.4
24ichthyosis, congenital, autosomal recessive 210.4
25rickets10.4
26herpes simplex10.4
27pseudoainhum10.4
28pachyonychia congenita10.4KRT81, KRT2
29gaucher's disease10.3
30chanarin-dorfman syndrome10.3
31keratitis-ichthyosis-deafness syndrome10.3
32pityriasis rubra pilaris10.3
33basal cell carcinoma10.3
34bathing suit ichthyosis10.3
35monilethrix10.3KRT81, KRT2
36leukoplakia10.3KRT1, FLG
37bowen syndrome10.2KRT1, KRT10, FLG
38ichthyosis, congenital, autosomal recessive 610.2
39ichthyosis, congenital, autosomal recessive 1010.2
40ichthyosis, congenital, autosomal recessive 810.2
41ichthyosis, congenital, autosomal recessive 710.2
42palmoplantar keratoderma, epidermolytic10.2
43ichthyosis, congenital, autosomal recessive 910.2
44ichthyosis, congenital, autosomal recessive 310.2
45ichthyosis, congenital, autosomal recessive 510.2
46keratitis10.2
47chondrodysplasia punctata, x-linked dominant10.2
48child syndrome10.2
49mycosis fungoides10.2
50spastic quadriplegia10.2

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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Symptoms:

 47 (show all 31)
  • absent/decreased/thin eyebrows
  • ectropion/entropion/eyelid eversion
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • tight skin/lack of elasticity
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • nails anomalies
  • autosomal recessive inheritance
  • everted lower lip
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • chronic/relapsing otitis
  • repeat respiratory infections
  • gangrena/necrosis
  • renal failure
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • musculo-tendinous retractions
  • short stature/dwarfism/nanism
  • dehydration/hydroelectrolytic loss
  • sepsis severe/septicemia
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hearing loss/hypoacusia/deafness
  • palmoplantar hyperkeratosis/keratoderma
  • alopecia
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Congenital Ichthyosiform Erythroderma:

(show all 27)
id Description Frequency HPO Source Accession
1 abnormality of the eyelid hallmark (90%) HP:0000492
2 dry skin hallmark (90%) HP:0000958
3 hyperkeratosis hallmark (90%) HP:0000962
4 pruritus hallmark (90%) HP:0000989
5 abnormality of the nail hallmark (90%) HP:0001597
6 ichthyosis hallmark (90%) HP:0008064
7 abnormal hair quantity hallmark (90%) HP:0011362
8 lack of skin elasticity hallmark (90%) HP:0100679
9 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
10 hypohidrosis hallmark (90%) HP:0000966
11 everted lower lip vermilion typical (50%) HP:0000232
12 abnormality of the helix typical (50%) HP:0011039
13 hearing impairment typical (50%) HP:0000365
14 palmoplantar keratoderma typical (50%) HP:0000982
15 alopecia typical (50%) HP:0001596
16 abnormality of the nail typical (50%) HP:0001597
17 inflammatory abnormality of the eye typical (50%) HP:0100533
18 corneal erosion typical (50%) HP:0200020
19 renal insufficiency occasional (7.5%) HP:0000083
20 abnormality of the teeth occasional (7.5%) HP:0000164
21 otitis media occasional (7.5%) HP:0000388
22 dehydration occasional (7.5%) HP:0001944
23 recurrent respiratory infections occasional (7.5%) HP:0002205
24 short stature occasional (7.5%) HP:0004322
25 cognitive impairment occasional (7.5%) HP:0100543
26 gangrene occasional (7.5%) HP:0100758
27 sepsis occasional (7.5%) HP:0100806

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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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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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

31
Skin, Endothelial, Eye, Kidney, Testes

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.1TGM1, FLG, CERS3, ALOXE3, ALOX12B, KRT1
2MP:00053827.7ABCA12, FLG, KRT2, KRT10, KRT5
3MP:00053787.5ABCA12, TGM1, FLG, CERS3, ALOXE3, KRT10
4MP:00107686.7ABCA12, TGM1, FLG, CERS3, ALOXE3, ALOX12B
5MP:00107716.4KRT5, ABCA12, TGM1, FLG, CERS3, ALOXE3

Publications for Congenital Ichthyosiform Erythroderma

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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Non-bullous congenital ichthyosiform erythroderma. (25129016)
2014
2
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
2013
3
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. (23182068)
2013
4
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
2013
5
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
6
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. (21352327)
2011
7
Bullous congenital ichthyosiform erythroderma. (22253153)
2011
8
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
9
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
2009
10
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. (18435726)
2009
11
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
12
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
13
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
14
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
15
Bullous congenital ichthyosiform erythroderma of Brocq. (17973888)
2007
16
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. (17909341)
2007
17
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. (17596149)
2007
18
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
19
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
20
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (16361731)
2005
21
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
22
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
23
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
2003
24
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
25
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
26
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
27
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
28
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
29
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. (11204523)
2000
30
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
31
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
1999
32
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
33
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
1998
34
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
1994
35
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
36
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
37
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
38
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
39
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
40
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
1983
41
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
42
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
43
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
44
Congenital ichthyosiform erythroderma. (5923456)
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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Clinvar genetic disease variations for Congenital Ichthyosiform Erythroderma:

6 (show all 78)
id Gene Variation Type Significance SNP ID Assembly Location
1TGM1TGM1, 1-BP DEL, 4640TdeletionPathogenic
2TGM1TGM1, IVS5, A-G, -2single nucleotide variantPathogenic
3TGM1NM_000359.2(TGM1): c.125C> A (p.Ser42Tyr)single nucleotide variantPathogenicrs41295338GRCh37Chr 14, 24731434: 24731434
4TGM1NM_000359.2(TGM1): c.428G> A (p.Arg143His)single nucleotide variantPathogenicrs121918719GRCh37Chr 14, 24730981: 24730981
5TGM1NM_000359.2(TGM1): c.479C> G (p.Ser160Cys)single nucleotide variantPathogenicrs121918728GRCh37Chr 14, 24730930: 24730930
6TGM1NM_000359.2(TGM1): c.424C> T (p.Arg142Cys)single nucleotide variantPathogenicrs121918716GRCh37Chr 14, 24730985: 24730985
7TGM1NM_000359.2(TGM1): c.968G> A (p.Arg323Gln)single nucleotide variantPathogenicrs121918717GRCh37Chr 14, 24728926: 24728926
8TGM1NM_000359.2(TGM1): c.425G> A (p.Arg142His)single nucleotide variantPathogenicrs121918718GRCh37Chr 14, 24730984: 24730984
9TGM1NM_000359.2(TGM1): c.1135G> C (p.Val379Leu)single nucleotide variantPathogenicrs121918720GRCh37Chr 14, 24728305: 24728305
10TGM1NM_000359.2(TGM1): c.1187G> T (p.Arg396Leu)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
11TGM1NM_000359.2(TGM1): c.1147G> A (p.Val383Met)single nucleotide variantPathogenicrs121918722GRCh37Chr 14, 24728293: 24728293
12TGM1NM_000359.2(TGM1): c.1166G> A (p.Arg389His)single nucleotide variantPathogenicrs121918723GRCh37Chr 14, 24727873: 24727873
13TGM1TGM1, 1-BP DEL, 9008AdeletionPathogenic
14TGM1NM_000359.2(TGM1): c.1469A> G (p.Asp490Gly)single nucleotide variantPathogenicrs121918724GRCh37Chr 14, 24725217: 24725217
15TGM1NM_000359.2(TGM1): c.832G> A (p.Gly278Arg)single nucleotide variantPathogenicrs121918725GRCh37Chr 14, 24729190: 24729190
16TGM1NM_000359.2(TGM1): c.1175G> A (p.Gly392Asp)single nucleotide variantPathogenicrs121918726GRCh37Chr 14, 24727864: 24727864
17TGM1TGM1, ARG142PR0undetermined variantPathogenic
18TGM1NM_000359.2(TGM1): c.857G> A (p.Arg286Gln)single nucleotide variantPathogenicrs121918727GRCh37Chr 14, 24729165: 24729165
19TGM1NM_000359.2(TGM1): c.1552G> A (p.Val518Met)single nucleotide variantPathogenicrs35312232GRCh37Chr 14, 24724663: 24724663
20TGM1NM_000359.2(TGM1): c.281G> A (p.Gly94Asp)single nucleotide variantPathogenicrs121918729GRCh37Chr 14, 24731278: 24731278
21TGM1NM_000359.2(TGM1): c.866A> C (p.Asn289Thr)single nucleotide variantPathogenicrs121918730GRCh37Chr 14, 24729156: 24729156
22TGM1NM_000359.2(TGM1): c.919C> T (p.Arg307Trp)single nucleotide variantPathogenicrs121918731GRCh37Chr 14, 24728975: 24728975
23TGM1NM_000359.2(TGM1): c.652G> A (p.Gly218Ser)single nucleotide variantPathogenicrs121918732GRCh37Chr 14, 24729761: 24729761
24NIPAL4NM_001099287.1(NIPAL4): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs199422216GRCh37Chr 5, 156890311: 156890311
25NIPAL4NIPAL4, ALA114ASNsingle nucleotide variantPathogenic
26NIPAL4NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp)single nucleotide variantPathogenicrs199422217GRCh37Chr 5, 156895736: 156895736
27NIPAL4NIPAL4, IVS5, G-A, +1single nucleotide variantPathogenic
28ABCA12NM_173076.2(ABCA12): c.4142G> A (p.Gly1381Glu)single nucleotide variantPathogenicrs28940268GRCh37Chr 2, 215851287: 215851287
29ABCA12NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser)single nucleotide variantPathogenicrs28940269GRCh37Chr 2, 215851290: 215851290
30ABCA12NM_173076.2(ABCA12): c.4951G> A (p.Gly1651Ser)single nucleotide variantPathogenicrs28940568GRCh37Chr 2, 215843554: 215843554
31ABCA12NM_173076.2(ABCA12): c.4541G> A (p.Arg1514His)single nucleotide variantPathogenicrs28940270GRCh37Chr 2, 215846949: 215846949
32ABCA12NM_173076.2(ABCA12): c.4615G> A (p.Glu1539Lys)single nucleotide variantPathogenicrs28940271GRCh37Chr 2, 215845332: 215845332
33LIPNLIPN, 2-BP DEL, 399GAdeletionPathogenic
34ALOXE3NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe)single nucleotide variantPathogenicrs121434232GRCh37Chr 17, 8012556: 8012556
35ALOXE3NM_001165960.1(ALOXE3): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs121434233GRCh37Chr 17, 8015495: 8015495
36ALOXE3NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser)single nucleotide variantPathogenicrs121434234GRCh37Chr 17, 8013529: 8013529
37TGM1NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs)deletionPathogenicrs398122900GRCh37Chr 14, 24727586: 24727590
38TGM1NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter)single nucleotide variantPathogenicrs397514522GRCh37Chr 14, 24724361: 24724361
39TGM1TGM1, -86C-Tsingle nucleotide variantPathogenic
40TGM1NM_000359.2(TGM1): c.305A> T (p.Asp102Val)single nucleotide variantPathogenicrs398122901GRCh37Chr 14, 24731254: 24731254
41TGM1TGM1, LEU204GLNundetermined variantPathogenic
42TGM1NM_000359.2(TGM1): c.826T> A (p.Tyr276Asn)single nucleotide variantPathogenicrs397514523GRCh37Chr 14, 24729196: 24729196
43TGM1NM_000359.2(TGM1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs397514524GRCh37Chr 14, 24731033: 24731033
44TGM1NM_000359.2(TGM1): c.943C> T (p.Arg315Cys)single nucleotide variantPathogenicrs397514525GRCh37Chr 14, 24728951: 24728951
45TGM1NM_000359.2(TGM1): c.944G> A (p.Arg315His)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
46TGM1NM_000359.2(TGM1): c.944G> T (p.Arg315Leu)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
47TGM1NM_000359.2(TGM1): c.1075G> A (p.Val359Met)single nucleotide variantPathogenicrs202037016GRCh37Chr 14, 24728365: 24728365
48TGM1NM_000359.2(TGM1): c.1187G> A (p.Arg396His)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
49TGM1NM_000359.2: c.1923_1927+2delGGCCTGTdeletionPathogenicrs398122902GRCh37Chr 14, 24724176: 24724182
50TGM1NM_000359.2(TGM1): c.1331dupA (p.Arg445Glufs)duplicationPathogenicrs398122903GRCh37Chr 14, 24727562: 24727562
51TGM1NM_000359.2(TGM1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs398122904GRCh37Chr 14, 24718695: 24718695
52TGM1NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs)deletionPathogenicrs398122905GRCh37Chr 14, 24727812: 24727816
53ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
54ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
55ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
56ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
57ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
58ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
59ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
60ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
61ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
62ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
63ALOXE3ALOXE3, GLY281VALundetermined variantPathogenic
64ALOXE3ALOXE3, PRO630LEUsingle nucleotide variantPathogenic
65ALOXE3ALOXE3, ARG145HISsingle nucleotide variantPathogenic
66ALOXE3ALOXE3, LEU427PROsingle nucleotide variantPathogenic
67CYP4F22CYP4F22, TRP521TERsingle nucleotide variantPathogenic
68PNPLA1PNPLA1, GLU131TERsingle nucleotide variantPathogenic
69PNPLA1PNPLA1, ALA59VALsingle nucleotide variantPathogenic
70CERS3NM_178842.3(CERS3): c.609+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 15, 101016290: 101016290
71ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
72ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
73ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996
74CERS3CERS3, TRP15ARGsingle nucleotide variantPathogenic
75CYP4F22NM_173483.3(CYP4F22): c.1303C> T (p.His435Tyr)single nucleotide variantPathogenicrs118203935GRCh37Chr 19, 15659981: 15659981
76CYP4F22NM_173483.3(CYP4F22): c.1306C> G (p.His436Asp)single nucleotide variantPathogenicrs118203936GRCh37Chr 19, 15659984: 15659984
77CYP4F22NM_173483.3(CYP4F22): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs118203937GRCh37Chr 19, 15651317: 15651317
78CYP4F22CYP4F22, EX3-12DELdeletionPathogenic

Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

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

Pathways for genes affiliated with Congenital Ichthyosiform Erythroderma

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Pathways related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ALOX12B, ALOXE3
28.8KRT5, KRT1, KRT2

Compounds for genes affiliated with Congenital Ichthyosiform Erythroderma

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
112(r)-hpete43 2411.3ALOXE3, ALOX12B
2dithranol439.6FLG, KRT10
3isotretinoin43 1210.5KRT1, KRT10
4isoleucine439.5KRT1, KRT10
5tazarotene43 1210.4KRT1, KRT10, KRT2
6gf 109203x43 5910.3KRT10, FLG, TGM1
7calcitriol43 59 24 1212.2KRT10, FLG, TGM1
8hematoxylin439.2KRT1, KRT10, FLG
9bromodeoxyuridine439.1KRT1, KRT10, FLG
10lipid438.7ABCA12, TGM1, FLG, ALOXE3, KRT1
11progesterone43 28 59 24 1212.6TGM1, KRT10, KRT1, KRT5
12steroid438.6TGM1, FLG, KRT10, KRT1
13calcipotriol43 59 28 1211.6TGM1, FLG, KRT10, KRT5
14histidine438.2KRT5, KRT10, FLG
15arginine438.1TGM1, FLG, KRT10, KRT1, KRT5
16retinoid437.7KRT5, KRT1, KRT10, KRT2, FLG, TGM1
17retinoic acid43 248.7TGM1, FLG, KRT2, KRT10, KRT1, KRT5

GO Terms for genes affiliated with Congenital Ichthyosiform Erythroderma

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Cellular components related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:00700628.0KRT5, KRT1, KRT10, KRT2, TGM1
2intermediate filamentGO:00058827.8FLG, KRT2, KRT10, KRT5
3keratin filamentGO:00450957.6KRT5, KRT1, KRT10, KRT2, KRT81

Biological processes related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:005112210.1ALOX12B, ALOXE3
2arachidonic acid metabolic processGO:001936910.0ALOX12B, ALOXE3
3linoleic acid metabolic processGO:00436519.9ALOXE3, ALOX12B
4ceramide biosynthetic processGO:00465139.8ALOX12B, ALOXE3, CERS3
5lipoxygenase pathwayGO:00193729.7ALOXE3, ALOX12B
6sphingolipid metabolic processGO:00066659.6ALOX12B, ALOXE3, CERS3
7keratinizationGO:00314249.6ABCA12, TGM1, KRT2
8establishment of skin barrierGO:00614369.3ALOX12B, ALOXE3, FLG, ABCA12
9keratinocyte differentiationGO:00302168.9TGM1, FLG, CERS3, KRT10

Molecular functions related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:00167029.9ALOX12B, ALOXE3
2iron ion bindingGO:00055069.4ALOX12B, ALOXE3, CYP4F22
3structural molecule activityGO:00051988.9KRT1, KRT81, FLG

Products for genes affiliated with Congenital Ichthyosiform Erythroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Ichthyosiform Erythroderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet