Congenital Ichthyosiform Erythroderma malady

Rare diseases, Eye diseases, Skin diseases categories

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 8 42 10
Lamellar Ichthyosis 8 42 21 48
Nonbullous Congenital Ichthyosiform Erythroderma 8 42 21
Cie 42 48
Li 21 48
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 42
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 42
Congenital Non Bullous Ichthyosiform Erythroderma 8
Congenital Non-Bullous Ichthyosiform Erythroderma 48
Non-Bullous Congenital Ichthyosiform Erythroderma 48
Congenital Nonbullous Ichthyosiform Erythroderma 21
Ichthyosiform Erythroderma Nonbullous Congenital 44
Ichthyosiform Erythroderma, Congenital 61
Ichthyosiform Erythroderma Congenital 44
Ichthyosis--Cheek--Eyebrow Syndrome 61
Iridocorneal Endothelial Syndrome 42
Congenital Lamellar Ichthyosis 48
Classic Lamellar Ichthyosis 48
Ichthyosiform Erythroderma 8
Erythrodermic Ichthyosis 48
Collodion Baby Syndrome 21
Ichthyoses, Lamellar 21
Ichthyosis, Lamellar 21
Collodion Fetus 61
Alligator Skin 8
Collodion Baby 21
Ice Syndrome 42
Nbcie 42
Ncie 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

Disease Ontology8 DOID:1699
NCIt39 C84805
MeSH33 D017490
Orphanet48 313, 79394
MESH via Orphanet34 D017490
ICD10 via Orphanet26 Q80.2
UMLS via Orphanet62 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:42 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:64 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
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
26herpes simplex10.4
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
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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 48 (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:

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:

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)
Non-bullous congenital ichthyosiform erythroderma. (25129016)
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. (23182068)
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. (21352327)
Bullous congenital ichthyosiform erythroderma. (22253153)
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. (18435726)
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
Bullous congenital ichthyosiform erythroderma of Brocq. (17973888)
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. (17909341)
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. (17596149)
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (16361731)
DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. (15583602)
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. (11204523)
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
Bullous congenital ichthyosiform erythroderma. (5358134)
Congenital ichthyosiform erythroderma. (5923456)
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. (13767211)
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
Bullous congenital ichthyosiform erythroderma. (13050146)
Congenital ichthyosiform erythroderma. (14782713)
Congenital ichthyosiform erythroderma. (14770554)
Primary exfoliative dermatitis; Leiner's disease; congenital ichthyosiform erythroderma. (18886309)

Variations for Congenital Ichthyosiform Erythroderma

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Clinvar genetic disease variations for Congenital Ichthyosiform Erythroderma:

5 (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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44Novoseek, 24HMDB, 11DrugBank, 60Tocris 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)-hpete44 2411.3ALOXE3, ALOX12B
2dithranol449.6KRT10, FLG
3isotretinoin44 1110.5KRT10, KRT1
4isoleucine449.5KRT10, KRT1
5tazarotene44 1110.4KRT2, KRT1, KRT10
6gf 109203x44 6010.3TGM1, KRT10, FLG
7calcitriol44 60 24 1112.2TGM1, KRT10, FLG
8hematoxylin449.2KRT1, KRT10, FLG
9bromodeoxyuridine449.1KRT10, FLG, KRT1
10lipid448.7TGM1, FLG, ALOXE3, ABCA12, KRT1
11progesterone44 28 60 24 1112.6KRT1, KRT10, TGM1, KRT5
12steroid448.6TGM1, FLG, KRT10, KRT1
13calcipotriol44 60 28 1111.6TGM1, FLG, KRT10, KRT5
14histidine448.2FLG, KRT5, KRT10
15arginine448.1TGM1, KRT5, KRT1, KRT10, FLG
16retinoid447.7KRT1, KRT5, KRT10, KRT2, FLG, TGM1
17retinoic acid44 248.7FLG, TGM1, KRT5, KRT1, KRT10, KRT2

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

Sources for Congenital Ichthyosiform Erythroderma

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet