MCID: CNG008
MIFTS: 61

Congenital Ichthyosiform Erythroderma

Categories: Rare diseases, Skin diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

MalaCards integrated aliases for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 12 49 24 28 14
Lamellar Ichthyosis 12 72 49 24 55 28
Nonbullous Congenital Ichthyosiform Erythroderma 12 49 24
Li 49 24 55
Congenital Nonbullous Ichthyosiform Erythroderma 24 28
Ichthyosiform Erythroderma, Congenital 41 69
Congenital Lamellar Ichthyosis 49 55
Ichthyosis, Lamellar 24 41
Nbcie 49 24
Ncie 49 24
Cie 49 55
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 49
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 49
Congenital Non Bullous Ichthyosiform Erythroderma 12
Congenital Non-Bullous Ichthyosiform Erythroderma 55
Non-Bullous Congenital Ichthyosiform Erythroderma 55
Ichthyosiform Erythroderma Nonbullous Congenital 51
Non-Bullous Ichthyosiform Erythroderma 69
Nonbullous Ichthyosiform Erythroderma 24
Lamellar Desquamation of the Newborn 12
Classic Lamellar Ichthyosis 55
Ichthyosiform Erythroderma 12
Erythrodermic Ichthyosis 55
Collodion Baby Syndrome 24
Ichthyoses, Lamellar 24
Collodion Fetus 69
Alligator Skin 12
Collodion Baby 24
Nbie 24

Characteristics:

Orphanet epidemiological data:

55
lamellar ichthyosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood;
congenital non-bullous ichthyosiform erythroderma
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



Summaries for Congenital Ichthyosiform Erythroderma

Genetics Home Reference : 24 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 self-improving collodion baby and epidermolytic hyperkeratosis, and has symptoms including renal insufficiency, abnormality of the dentition and everted lower lip vermilion. An important gene associated with Congenital Ichthyosiform Erythroderma is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Bezafibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are homeostasis/metabolism and integument

NIH Rare Diseases : 49 Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Last updated: 2/2/2016

Wikipedia : 72 Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare... more...

Related Diseases for Congenital Ichthyosiform Erythroderma

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 34.4 ALOX12B ALOXE3 TGM1
2 epidermolytic hyperkeratosis 34.0 KRT1 KRT10 KRT2 LOR
3 ichthyosis, congenital, autosomal recessive 2 32.9 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 SULT2B1
4 ichthyosis, congenital, autosomal recessive 4a 32.9 ABCA12 TGM1
5 ichthyosis vulgaris 32.8 ABCA12 KRT1 LOR TGM1
6 ichthyosis, congenital, autosomal recessive 4b 32.7 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
7 ichthyosis bullosa of siemens 32.6 IVL KRT1 KRT10 KRT2
8 ichthyosis, cyclic, with epidermolytic hyperkeratosis 32.5 KRT1 KRT10
9 ichthyosis, congenital, autosomal recessive 7 32.4 SDR9C7 ST14
10 ichthyosis, congenital, autosomal recessive 1 30.8 ABCA12 ALOX12B ALOXE3 CYP4F22 IVL KRT10
11 keratosis 30.5 IVL KRT1 KRT10
12 psoriasis 30.1 IVL KRT1 KRT10 LOR TGM1
13 ichthyosis 29.0 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22
14 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 12.7
15 acral self-healing collodion baby 12.3
16 ichthyosis lamellar 3 12.2
17 ichthyosis, lamellar, autosomal dominant 12.1
18 ichthyosis lamellar 1 12.1
19 ichthyosis lamellar 2 12.1
20 ichthyosis, congenital, autosomal recessive 11 11.3
21 ichthyosis, congenital, autosomal recessive 5 11.3
22 ichthyosis, congenital, autosomal recessive 3 11.3
23 ichthyosis, congenital, autosomal recessive 6 11.3
24 ichthyosis, congenital, autosomal recessive 8 11.3
25 ichthyosis, congenital, autosomal recessive 9 11.3
26 ichthyosis, congenital, autosomal recessive 10 11.3
27 ichthyosis, congenital, autosomal recessive 12 11.3
28 ichthyosis, congenital, autosomal recessive 14 11.3
29 ichthyosis, congenital, autosomal recessive 13 11.3
30 ichthyosis hystrix gravior 11.1
31 chanarin-dorfman syndrome 11.1
32 erythroderma, ichthyosiform, congenital reticular 10.6 KRT1 KRT10
33 epidermolytic acanthoma 10.6 KRT1 KRT10
34 acanthoma 10.5 KRT1 KRT10
35 elastosis perforans serpiginosa 10.5 IVL TGM1
36 white sponge nevus 1 10.5 KRT1 KRT10 KRT2
37 striate palmoplantar keratoderma 10.5 KRT1 KRT10
38 filamentary keratitis 10.5 KRT1 KRT10
39 ectropion 10.5 ABCA12 TGM1
40 vohwinkel syndrome 10.4 LOR TGM1
41 palmoplantar keratoderma, nonepidermolytic 10.4 KRT1 KRT10 LOR
42 palmoplantar keratosis 10.4 KRT1 KRT10 LOR
43 papilloma 10.3 IVL KRT1 KRT10
44 discoid lupus erythematosus 10.3 IVL KRT10
45 eyelid disease 10.3 ABCA12 TGM1
46 ichthyosis, x-linked 10.1 KRT10 TGM1
47 netherton syndrome 10.1
48 rickets 10.1
49 melanoma 10.1
50 ring chromosome y syndrome 10.1

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



Diseases related to Congenital Ichthyosiform Erythroderma

Symptoms & Phenotypes for Congenital Ichthyosiform Erythroderma

Human phenotypes related to Congenital Ichthyosiform Erythroderma:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
2 abnormality of the dentition 55 31 occasional (7.5%) Occasional (29-5%) HP:0000164
3 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
4 chronic otitis media 55 31 occasional (7.5%) Occasional (29-5%) HP:0000389
5 ectropion 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000656
6 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
7 hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000962
8 pruritus 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000989
9 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
10 erythroderma 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001019
11 abnormality of the nail 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001597
12 dehydration 55 31 occasional (7.5%) Occasional (29-5%) HP:0001944
13 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
14 short stature 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004322
15 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
16 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
17 abnormality of the helix 55 31 frequent (33%) Frequent (79-30%) HP:0011039
18 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
19 lack of skin elasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0100679
20 gangrene 55 31 occasional (7.5%) Occasional (29-5%) HP:0100758
21 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
22 aplasia/hypoplasia of the eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0100840
23 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
24 keratitis 55 31 frequent (33%) Frequent (79-30%) HP:0000491
25 hypohidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000966
26 palmoplantar keratoderma 55 31 frequent (33%) Frequent (79-30%) HP:0000982
27 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
28 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
29 corneal erosion 55 31 frequent (33%) Frequent (79-30%) HP:0200020

MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ABCA12 ABHD5 ALOX12B ALOXE3 CASP14 CERS3
2 integument MP:0010771 9.36 ABCA12 ABHD5 ALOX12B ALOXE3 CASP14 CERS3

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

Drugs for Congenital Ichthyosiform Erythroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Anticholesteremic Agents Phase 4,Phase 2
3 Antimetabolites Phase 4,Phase 2
4 Clofibric Acid Phase 4 882-09-7
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Liarozole Investigational Phase 2, Phase 3 115575-11-6
8 Cariostatic Agents Phase 3
9 Monolaurin Phase 3
10 Protective Agents Phase 3
11 Androgen Antagonists Phase 2, Phase 3
12 Androgens Phase 2, Phase 3
13 Antineoplastic Agents, Hormonal Phase 2, Phase 3
14 Dermatologic Agents Phase 2, Phase 3,Phase 1
15 Hormone Antagonists Phase 2, Phase 3
16 Hormones Phase 2, Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Adalimumab Approved Phase 2 331731-18-1 16219006
20
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
21
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
22 Anti-Inflammatory Agents Phase 2,Phase 1
23 Antirheumatic Agents Phase 2,Phase 1
24 Analgesics Phase 1, Phase 2
25 Analgesics, Non-Narcotic Phase 1, Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
27 Calcineurin Inhibitors Phase 1, Phase 2
28 Immunosuppressive Agents Phase 1, Phase 2
29 Peripheral Nervous System Agents Phase 1, Phase 2
30 Antibodies Phase 2
31 Antibodies, Monoclonal Phase 2
32 Immunoglobulins Phase 2
33 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 23)

# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
6 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
7 Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
8 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
9 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
10 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
11 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
12 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1 BPR277 ointment (controlled application);Placebo (Vehicle);BPR277 ointment;Placebo (Vehicle);BPR277;Placebo (Vehicle)
13 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
14 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
15 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313
16 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
17 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
18 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
19 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
20 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
21 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
22 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763
23 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma

Cochrane evidence based reviews: ichthyosiform erythroderma, congenital

Genetic Tests for Congenital Ichthyosiform Erythroderma

Genetic tests related to Congenital Ichthyosiform Erythroderma:

# Genetic test Affiliating Genes
1 Lamellar Ichthyosis 28
2 Congenital Nonbullous Ichthyosiform Erythroderma 28
3 Congenital Ichthyosiform Erythroderma 28

Anatomical Context for Congenital Ichthyosiform Erythroderma

MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

38
Skin, Eye, Testes, Kidney

Publications for Congenital Ichthyosiform Erythroderma

Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50) (show all 116)
# Title Authors Year
1
Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis. ( 28771802 )
2017
2
Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma. ( 27813222 )
2017
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
4
Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings. ( 26645853 )
2016
5
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
6
ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay. ( 25655901 )
2015
7
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
8
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. ( 26370990 )
2015
9
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
10
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
11
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. ( 23682801 )
2013
12
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2013
13
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. ( 22257947 )
2012
14
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. ( 21729033 )
2012
15
Bullous congenital ichthyosiform erythroderma. ( 22253153 )
2011
16
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. ( 21352327 )
2011
17
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. ( 21700545 )
2011
18
Improvement of nonbullous congenital ichthyosiform erythroderma following functional endoscopic sinus surgery. ( 21276063 )
2011
19
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. ( 20222929 )
2010
20
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
21
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. ( 18435726 )
2009
22
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ( 19262603 )
2009
23
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
24
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. ( 19689541 )
2009
25
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. ( 18498407 )
2008
26
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. ( 18284401 )
2008
27
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. ( 18347291 )
2008
28
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. ( 18279460 )
2008
29
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. ( 18219278 )
2008
30
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. ( 17970808 )
2008
31
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
32
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. ( 17909341 )
2007
33
Bullous congenital ichthyosiform erythroderma of Brocq. ( 17973888 )
2007
34
Multicystic dysplastic kidney in association with congenital ichthyosiform erythroderma. ( 19363284 )
2007
35
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. ( 17587848 )
2007
36
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. ( 17596149 )
2007
37
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. ( 17508018 )
2007
38
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. ( 16792775 )
2006
39
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. ( 16901309 )
2006
40
Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. ( 15953088 )
2005
41
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. ( 16361731 )
2005
42
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. ( 15347338 )
2004
43
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
44
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. ( 12636025 )
2003
45
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. ( 12588401 )
2003
46
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. ( 12780701 )
2003
47
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. ( 12823447 )
2003
48
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. ( 11990254 )
2002
49
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. ( 11773004 )
2002
50
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. ( 11531804 )
2001

Variations for Congenital Ichthyosiform Erythroderma

ClinVar genetic disease variations for Congenital Ichthyosiform Erythroderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
2 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
3 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh37 Chromosome 14, 24724594: 24724594
4 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh37 Chromosome 5, 156895736: 156895736

Expression for Congenital Ichthyosiform Erythroderma

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

Pathways for Congenital Ichthyosiform Erythroderma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 CASP14 IVL KRT1 KRT10 KRT2 LOR
2
Show member pathways
11.73 CASP14 IVL KRT1 KRT10 KRT2 LOR
3 10.52 ALOX12B ALOXE3

GO Terms for Congenital Ichthyosiform Erythroderma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 CASP14 IVL KRT1 KRT10 KRT2 SPINK5
2 cytosol GO:0005829 9.8 ABCA12 ABHD5 ALOX12B ALOXE3 CASP14 IVL
3 keratin filament GO:0045095 9.43 CASP14 KRT1 KRT2
4 epidermal lamellar body GO:0097209 9.16 ABCA12 SPINK5
5 cornified envelope GO:0001533 9.1 IVL KRT1 KRT10 KRT2 LOR TGM1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 ABHD5 ALOX12B ALOXE3 CERS3 LIPN PNPLA1
2 keratinization GO:0031424 9.76 ABCA12 CASP14 IVL KRT1 KRT10 KRT2
3 peptide cross-linking GO:0018149 9.73 IVL KRT1 KRT10 KRT2 LOR TGM1
4 fatty acid metabolic process GO:0006631 9.69 ABHD5 ALOX12B ALOXE3
5 establishment of skin barrier GO:0061436 9.62 ABCA12 ALOX12B ALOXE3 KRT1
6 ceramide biosynthetic process GO:0046513 9.58 ALOX12B ALOXE3 CERS3
7 lipid homeostasis GO:0055088 9.52 ABCA12 PNPLA1
8 keratinocyte differentiation GO:0030216 9.5 ABCA12 CERS3 IVL KRT10 LOR ST14
9 arachidonic acid metabolic process GO:0019369 9.49 ALOX12B ALOXE3
10 linoleic acid metabolic process GO:0043651 9.48 ALOX12B ALOXE3
11 lipoxygenase pathway GO:0019372 9.46 ALOX12B ALOXE3
12 hepoxilin biosynthetic process GO:0051122 9.43 ALOX12B ALOXE3
13 cornification GO:0070268 9.32 CASP14 IVL KRT1 KRT10 KRT2 LIPN

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.5 ALOX12B ALOXE3 CYP4F22
2 structural molecule activity GO:0005198 9.35 IVL KRT1 KRT10 KRT2 LOR
3 triglyceride lipase activity GO:0004806 9.26 ABHD5 PNPLA1
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 ALOX12B ALOXE3
5 structural constituent of epidermis GO:0030280 8.92 KRT1 KRT10 KRT2 LOR

Sources for Congenital Ichthyosiform Erythroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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