MCID: CNG008
MIFTS: 60

Congenital Ichthyosiform Erythroderma

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

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

MalaCards integrated aliases for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 12 53 25 29 6 15
Lamellar Ichthyosis 12 76 53 25 59 29 6
Nonbullous Congenital Ichthyosiform Erythroderma 12 53 25
Congenital Nonbullous Ichthyosiform Erythroderma 25 29 6
Li 53 25 59
Congenital Non-Bullous Ichthyosiform Erythroderma 53 59
Non-Bullous Congenital Ichthyosiform Erythroderma 53 59
Ichthyosiform Erythroderma, Congenital 44 73
Congenital Lamellar Ichthyosis 53 59
Erythrodermic Ichthyosis 53 59
Ichthyosis, Lamellar 25 44
Nbcie 53 25
Ncie 53 25
Cie 53 59
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 53
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 53
Congenital Non Bullous Ichthyosiform Erythroderma 12
Ichthyosiform Erythroderma Nonbullous Congenital 55
Non-Bullous Ichthyosiform Erythroderma 73
Nonbullous Ichthyosiform Erythroderma 25
Lamellar Desquamation of the Newborn 12
Classic Lamellar Ichthyosis 59
Ichthyosiform Erythroderma 12
Collodion Baby Syndrome 25
Ichthyoses, Lamellar 25
Collodion Fetus 73
Alligator Skin 12
Collodion Baby 25
Nbie 25

Characteristics:

Orphanet epidemiological data:

59
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 : 25 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. An important gene associated with Congenital Ichthyosiform Erythroderma is TGM1 (Transglutaminase 1), 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 renal insufficiency and abnormality of the dentition

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 79)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 35.0 ALOX12B ALOXE3 TGM1
2 epidermolytic hyperkeratosis 34.2 KRT1 KRT10 KRT2 LOR
3 ichthyosis, congenital, autosomal recessive 4a 33.5 ABCA12 TGM1
4 ichthyosis, congenital, autosomal recessive 2 33.1 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
5 ichthyosis, congenital, autosomal recessive 4b 33.0 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
6 ichthyosis, cyclic, with epidermolytic hyperkeratosis 33.0 KRT1 KRT10
7 ichthyosis vulgaris 32.8 ABCA12 KRT1 KRT10 LOR TGM1
8 ichthyosis bullosa of siemens 32.8 IVL KRT1 KRT10 KRT2
9 ichthyosis, congenital, autosomal recessive 1 32.0 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
10 keratosis 30.8 IVL KRT1 KRT10
11 psoriasis 30.1 IVL KRT10 LOR TGM1
12 ichthyosis 27.6 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22
13 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 12.7
14 acral self-healing collodion baby 12.3
15 ichthyosis lamellar 3 12.2
16 ichthyosis, lamellar, autosomal dominant 12.1
17 ichthyosis lamellar 1 12.1
18 ichthyosis lamellar 2 12.1
19 ichthyosis, congenital, autosomal recessive 11 11.3
20 ichthyosis, congenital, autosomal recessive 5 11.3
21 ichthyosis, congenital, autosomal recessive 3 11.3
22 ichthyosis, congenital, autosomal recessive 6 11.3
23 ichthyosis, congenital, autosomal recessive 8 11.3
24 ichthyosis, congenital, autosomal recessive 9 11.3
25 ichthyosis, congenital, autosomal recessive 10 11.3
26 ichthyosis, congenital, autosomal recessive 12 11.3
27 ichthyosis, congenital, autosomal recessive 14 11.2
28 ichthyosis, congenital, autosomal recessive 13 11.2
29 ichthyosis hystrix gravior 11.1
30 chanarin-dorfman syndrome 11.1
31 ichthyosis, congenital, autosomal recessive 7 11.1
32 diffuse cutaneous mastocytosis 11.1
33 epidermolytic acanthoma 10.9 KRT1 KRT10
34 erythroderma, ichthyosiform, congenital reticular 10.9 KRT1 KRT10
35 acanthoma 10.9 KRT1 KRT10
36 striate palmoplantar keratoderma 10.8 KRT1 KRT10
37 elastosis perforans serpiginosa 10.8 IVL TGM1
38 filamentary keratitis 10.8 KRT1 KRT10
39 white sponge nevus 1 10.8 KRT1 KRT10 KRT2
40 ectropion 10.7 ABCA12 TGM1
41 vohwinkel syndrome 10.7 LOR TGM1
42 ichthyosis, x-linked 10.6 KRT10 TGM1
43 discoid lupus erythematosus 10.6 IVL KRT10
44 eyelid disease 10.5 ABCA12 TGM1
45 papilloma 10.5 IVL KRT1 KRT10
46 netherton syndrome 10.1
47 rickets 10.1
48 melanoma 10.1
49 nevus, epidermal 10.0
50 noonan syndrome 1 10.0

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
3 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
4 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
5 ectropion 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000656
6 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
7 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
8 pruritus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000989
9 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
10 erythroderma 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001019
11 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001597
12 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
13 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
14 short stature 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004322
15 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
16 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
17 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
18 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
19 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
20 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
21 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
22 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
23 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
24 keratitis 59 32 frequent (33%) Frequent (79-30%) HP:0000491
25 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
26 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
27 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
28 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
29 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020

MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 KRT1 LIPN PNPLA1 SPINK5 SULT2B1 TGM1
2 integument MP:0010771 9.28 KRT1 PNPLA1 SPINK5 TGM1 ABCA12 ABHD5

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 6447131 17753757
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,Not Applicable

Interventional clinical trials:

(show all 24)
# 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 Not Applicable
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 Not Applicable
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 Not Applicable
21 Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO) Recruiting NCT03464994 Not Applicable
22 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
23 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763 Not Applicable
24 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209 Not Applicable

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 29
2 Congenital Nonbullous Ichthyosiform Erythroderma 29
3 Congenital Ichthyosiform Erythroderma 29

Anatomical Context for Congenital Ichthyosiform Erythroderma

MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

41
Skin, Eye, Testes, Kidney

Publications for Congenital Ichthyosiform Erythroderma

Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50) (show all 199)
# Title Authors Year
1
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. ( 29935003 )
2018
2
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
3
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
4
Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations. ( 29722424 )
2018
5
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. ( 29786003 )
2018
6
Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma. ( 29952820 )
2018
7
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
8
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
9
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
10
Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. ( 29194782 )
2017
11
Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma. ( 27813222 )
2017
12
Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis. ( 28815772 )
2017
13
A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 )
2017
14
Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis. ( 28771802 )
2017
15
Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings. ( 26645853 )
2016
16
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
17
Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia. ( 25423909 )
2015
18
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
19
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
20
A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature. ( 26439315 )
2015
21
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
22
ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay. ( 25655901 )
2015
23
A New Born with Lamellar ichthyosis(Collodion Baby). ( 26305314 )
2015
24
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
25
Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis. ( 25250916 )
2014
26
Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene. ( 23192619 )
2013
27
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis. ( 23689228 )
2013
28
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. ( 23682801 )
2013
29
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
30
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2013
31
Lamellar ichthyosis with rickets. ( 24353599 )
2013
32
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. ( 23871423 )
2013
33
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe. ( 23895935 )
2013
34
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. ( 23096117 )
2012
35
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. ( 22257947 )
2012
36
Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis. ( 22435431 )
2012
37
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. ( 21729033 )
2012
38
Bullous congenital ichthyosiform erythroderma. ( 22253153 )
2011
39
Improvement of nonbullous congenital ichthyosiform erythroderma following functional endoscopic sinus surgery. ( 21276063 )
2011
40
Congenital bilateral ectropion in lamellar ichthyosis. ( 21713241 )
2011
41
Mucous membrane graft for cicatricial ectropion in lamellar ichthyosis: an approach revisited. ( 21346670 )
2011
42
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. ( 21352327 )
2011
43
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. ( 21700545 )
2011
44
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. ( 20222929 )
2010
45
Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis. ( 20167857 )
2010
46
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. ( 19863506 )
2010
47
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
48
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
49
Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. ( 19438474 )
2009
50
Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole. ( 19197536 )
2009

Variations for Congenital Ichthyosiform Erythroderma

ClinVar genetic disease variations for Congenital Ichthyosiform Erythroderma:

6
(show top 50) (show all 702)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh37 Chromosome 5, 156895736: 156895736
2 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh38 Chromosome 5, 157468728: 157468728
3 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
4 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh38 Chromosome 14, 24258606: 24258610
5 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh37 Chromosome 17, 7978925: 7978925
6 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh38 Chromosome 17, 8075607: 8075607
7 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
8 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh38 Chromosome 17, 8075687: 8075687
9 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh37 Chromosome 14, 24724594: 24724594
10 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh38 Chromosome 14, 24255388: 24255388
11 ABCA12 NM_173076.2(ABCA12): c.821A> G (p.Gln274Arg) single nucleotide variant Benign/Likely benign rs11890468 GRCh37 Chromosome 2, 215910612: 215910612
12 ABCA12 NM_173076.2(ABCA12): c.821A> G (p.Gln274Arg) single nucleotide variant Benign/Likely benign rs11890468 GRCh38 Chromosome 2, 215045888: 215045888
13 ABCA12 NM_173076.2(ABCA12): c.1649A> G (p.Glu550Gly) single nucleotide variant Benign/Likely benign rs16853149 GRCh37 Chromosome 2, 215884068: 215884068
14 ABCA12 NM_173076.2(ABCA12): c.1649A> G (p.Glu550Gly) single nucleotide variant Benign/Likely benign rs16853149 GRCh38 Chromosome 2, 215019344: 215019344
15 ABCA12 NM_173076.2(ABCA12): c.485C> T (p.Ala162Val) single nucleotide variant Uncertain significance rs149399707 GRCh37 Chromosome 2, 215917233: 215917233
16 ABCA12 NM_173076.2(ABCA12): c.485C> T (p.Ala162Val) single nucleotide variant Uncertain significance rs149399707 GRCh38 Chromosome 2, 215052509: 215052509
17 ABCA12 NM_173076.2(ABCA12): c.859C> G (p.Arg287Gly) single nucleotide variant Benign/Likely benign rs11891778 GRCh37 Chromosome 2, 215910574: 215910574
18 ABCA12 NM_173076.2(ABCA12): c.859C> G (p.Arg287Gly) single nucleotide variant Benign/Likely benign rs11891778 GRCh38 Chromosome 2, 215045850: 215045850
19 ABCA12 NM_173076.2(ABCA12): c.6648G> T (p.Arg2216Ser) single nucleotide variant Likely benign rs145031776 GRCh37 Chromosome 2, 215815807: 215815807
20 ABCA12 NM_173076.2(ABCA12): c.6648G> T (p.Arg2216Ser) single nucleotide variant Likely benign rs145031776 GRCh38 Chromosome 2, 214951083: 214951083
21 ABCA12 NM_173076.2(ABCA12): c.6306C> T (p.Tyr2102=) single nucleotide variant Benign rs10498027 GRCh37 Chromosome 2, 215820013: 215820013
22 ABCA12 NM_173076.2(ABCA12): c.6306C> T (p.Tyr2102=) single nucleotide variant Benign rs10498027 GRCh38 Chromosome 2, 214955289: 214955289
23 ABCA12 NM_173076.2(ABCA12): c.5400G> A (p.Thr1800=) single nucleotide variant Benign rs16853022 GRCh38 Chromosome 2, 214974846: 214974846
24 ABCA12 NM_173076.2(ABCA12): c.5400G> A (p.Thr1800=) single nucleotide variant Benign rs16853022 GRCh37 Chromosome 2, 215839570: 215839570
25 ABCA12 NM_173076.2(ABCA12): c.4126T> C (p.Leu1376=) single nucleotide variant Benign rs34351934 GRCh38 Chromosome 2, 214986579: 214986579
26 ABCA12 NM_173076.2(ABCA12): c.4126T> C (p.Leu1376=) single nucleotide variant Benign rs34351934 GRCh37 Chromosome 2, 215851303: 215851303
27 ABCA12 NM_173076.2(ABCA12): c.3726G> A (p.Pro1242=) single nucleotide variant Likely benign rs71428357 GRCh37 Chromosome 2, 215854156: 215854156
28 ABCA12 NM_173076.2(ABCA12): c.3726G> A (p.Pro1242=) single nucleotide variant Likely benign rs71428357 GRCh38 Chromosome 2, 214989432: 214989432
29 ABCA12 NM_173076.2(ABCA12): c.3033A> G (p.Pro1011=) single nucleotide variant Benign rs10498030 GRCh38 Chromosome 2, 215000851: 215000851
30 ABCA12 NM_173076.2(ABCA12): c.3033A> G (p.Pro1011=) single nucleotide variant Benign rs10498030 GRCh37 Chromosome 2, 215865575: 215865575
31 ABCA12 NM_173076.2(ABCA12): c.2329T> A (p.Ser777Thr) single nucleotide variant Benign rs7560008 GRCh37 Chromosome 2, 215876166: 215876166
32 ABCA12 NM_173076.2(ABCA12): c.2329T> A (p.Ser777Thr) single nucleotide variant Benign rs7560008 GRCh38 Chromosome 2, 215011442: 215011442
33 ABCA12 NM_173076.2(ABCA12): c.2124A> G (p.Ala708=) single nucleotide variant Benign rs10198064 GRCh38 Chromosome 2, 215011647: 215011647
34 ABCA12 NM_173076.2(ABCA12): c.2124A> G (p.Ala708=) single nucleotide variant Benign rs10198064 GRCh37 Chromosome 2, 215876371: 215876371
35 ABCA12 NM_173076.2(ABCA12): c.1892G> A (p.Arg631Gln) single nucleotide variant Likely benign rs76979001 GRCh37 Chromosome 2, 215880278: 215880278
36 ABCA12 NM_173076.2(ABCA12): c.1892G> A (p.Arg631Gln) single nucleotide variant Likely benign rs76979001 GRCh38 Chromosome 2, 215015554: 215015554
37 ABCA12 NM_173076.2(ABCA12): c.888G> A (p.Val296=) single nucleotide variant Benign rs17501837 GRCh37 Chromosome 2, 215901774: 215901774
38 ABCA12 NM_173076.2(ABCA12): c.888G> A (p.Val296=) single nucleotide variant Benign rs17501837 GRCh38 Chromosome 2, 215037050: 215037050
39 NIPAL4 NM_001099287.1(NIPAL4): c.-10A> G single nucleotide variant Benign rs1105282 GRCh38 Chromosome 5, 157460125: 157460125
40 NIPAL4 NM_001099287.1(NIPAL4): c.-10A> G single nucleotide variant Benign rs1105282 GRCh37 Chromosome 5, 156887133: 156887133
41 NIPAL4 NM_001099287.1(NIPAL4): c.637A> G (p.Arg213Gly) single nucleotide variant Benign rs6860507 GRCh38 Chromosome 5, 157471682: 157471682
42 NIPAL4 NM_001099287.1(NIPAL4): c.637A> G (p.Arg213Gly) single nucleotide variant Benign rs6860507 GRCh37 Chromosome 5, 156898690: 156898690
43 NIPAL4 NM_001099287.1(NIPAL4): c.1302T> C (p.Val434=) single nucleotide variant Benign rs4704870 GRCh38 Chromosome 5, 157472861: 157472861
44 NIPAL4 NM_001099287.1(NIPAL4): c.1302T> C (p.Val434=) single nucleotide variant Benign rs4704870 GRCh37 Chromosome 5, 156899869: 156899869
45 NIPAL4 NM_001099287.1(NIPAL4): c.1358C> T (p.Ser453Leu) single nucleotide variant Likely benign rs61743233 GRCh37 Chromosome 5, 156899925: 156899925
46 NIPAL4 NM_001099287.1(NIPAL4): c.1358C> T (p.Ser453Leu) single nucleotide variant Likely benign rs61743233 GRCh38 Chromosome 5, 157472917: 157472917
47 PNPLA1 NM_001145717.1(PNPLA1): c.459C> T (p.Phe153=) single nucleotide variant Benign rs2239795 GRCh37 Chromosome 6, 36260858: 36260858
48 PNPLA1 NM_001145717.1(PNPLA1): c.459C> T (p.Phe153=) single nucleotide variant Benign rs2239795 GRCh38 Chromosome 6, 36293081: 36293081
49 PNPLA1 NM_001145717.1(PNPLA1): c.504+11C> T single nucleotide variant Benign rs2239796 GRCh37 Chromosome 6, 36260914: 36260914
50 PNPLA1 NM_001145717.1(PNPLA1): c.504+11C> T single nucleotide variant Benign rs2239796 GRCh38 Chromosome 6, 36293137: 36293137

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
12.91 IVL KRT1 KRT10 KRT2 LOR SPINK5
2
Show member pathways
11.62 IVL KRT1 KRT10 KRT2 LOR SPINK5
3 10.32 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 cytosol GO:0005829 9.97 ABCA12 ABHD5 ALOX12B ALOXE3 IVL KRT1
2 cornified envelope GO:0001533 9.1 IVL KRT1 KRT10 KRT2 LOR TGM1
3 epidermal lamellar body GO:0097209 8.96 ABCA12 SPINK5

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 9.87 ABHD5 ALOX12B ALOXE3 CERS3 LIPN PNPLA1
2 keratinization GO:0031424 9.8 ABCA12 IVL KRT1 KRT10 KRT2 LOR
3 fatty acid metabolic process GO:0006631 9.7 ABHD5 ALOX12B ALOXE3
4 keratinocyte differentiation GO:0030216 9.63 ABCA12 CERS3 IVL KRT10 LOR TGM1
5 lipid homeostasis GO:0055088 9.61 ABCA12 ABHD5 PNPLA1
6 ceramide biosynthetic process GO:0046513 9.58 ALOX12B ALOXE3 CERS3
7 establishment of skin barrier GO:0061436 9.54 ABCA12 ALOX12B ALOXE3
8 arachidonic acid metabolic process GO:0019369 9.51 ALOX12B ALOXE3
9 linoleic acid metabolic process GO:0043651 9.49 ALOX12B ALOXE3
10 lipoxygenase pathway GO:0019372 9.48 ALOX12B ALOXE3
11 hepoxilin biosynthetic process GO:0051122 9.46 ALOX12B ALOXE3
12 peptide cross-linking GO:0018149 9.43 IVL KRT1 KRT10 KRT2 LOR TGM1
13 cornification GO:0070268 9.23 IVL KRT1 KRT10 KRT2 LIPN LOR

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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