LI
MCID: CNG008
MIFTS: 56

Congenital Ichthyosiform Erythroderma (LI) malady

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

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 12 50 14
Lamellar Ichthyosis 12 50 25 56
Nonbullous Congenital Ichthyosiform Erythroderma 12 50 25
Ichthyosiform Erythroderma, Congenital 29 42 69
Ichthyosis, Lamellar 25 29 42
Li 50 25 56
Congenital Nonbullous Ichthyosiform Erythroderma 25 29
Congenital Lamellar Ichthyosis 50 56
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 50
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 50
Congenital Non Bullous Ichthyosiform Erythroderma 12
Ichthyosiform Erythroderma Nonbullous Congenital 52
Lamellar Desquamation of the Newborn 12
Classic Lamellar Ichthyosis 56
Ichthyosiform Erythroderma 12
Collodion Baby Syndrome 25
Ichthyoses, Lamellar 25
Collodion Fetus 69
Alligator Skin 12
Collodion Baby 25
Nbcie 50
Ncie 50
Cie 50

Characteristics:

Orphanet epidemiological data:

56
lamellar ichthyosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:1699
ICD10 33 Q80.2
NCIt 47 C84805
Orphanet 56 ORPHA313
MESH via Orphanet 43 D017490
ICD10 via Orphanet 34 Q80.2

Summaries for Congenital Ichthyosiform Erythroderma

NIH Rare Diseases : 50 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

MalaCards based summary : Congenital Ichthyosiform Erythroderma, also known as lamellar ichthyosis, is related to ichthyosis, autosomal recessive 4b and squamous cell carcinoma, and has symptoms including pruritus, dry skin and chronic otitis media. 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 integument and mortality/aging

Genetics Home Reference : 25 Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.

Wikipedia : 71 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... 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 94)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, autosomal recessive 4b 32.3 ABCA12 TGM1
2 squamous cell carcinoma 30.3 KRT1 KRT10
3 acral self-healing collodion baby 12.2
4 epidermolytic hyperkeratosis 12.1
5 ichthyosis lamellar 3 12.0
6 ichthyosis lamellar 1 12.0
7 ichthyosis lamellar 2 12.0
8 ichthyosis lamellar, autosomal dominant 11.9
9 ichthyosis, congenital, autosomal recessive 2 11.9
10 epidermolytic ichthyosis 11.6
11 ichthyosis vulgaris 11.4
12 autosomal recessive congenital ichthyosis 11.3
13 ichthyosis, congenital, autosomal recessive 3 11.2
14 ichthyosis, congenital, autosomal recessive 5 11.2
15 ichthyosis, congenital, autosomal recessive 6 11.2
16 ichthyosis, congenital, autosomal recessive 10 11.2
17 ichthyosis, congenital, autosomal recessive 8 11.2
18 ichthyosis, congenital, autosomal recessive 11 11.2
19 ichthyosis, congenital, autosomal recessive 1 11.2
20 ichthyosis, congenital, autosomal recessive 9 11.2
21 ichthyosis, congenital, autosomal recessive 4a 11.2
22 krt1-related epidermolytic hyperkeratosis 11.0
23 krt10-related epidermolytic hyperkeratosis 11.0
24 chanarin-dorfman syndrome 11.0
25 ichthyosis hystrix gravior 11.0
26 ichthyosis, congenital, autosomal recessive 7 11.0
27 ichthyosis, cyclic, with epidermolytic hyperkeratosis 11.0
28 palmoplantar keratoderma, epidermolytic 11.0
29 ichthyosis 10.5
30 bradyopsia 10.3 KRT1 KRT10
31 roussy-levy syndrome 10.3 LOR TGM1
32 erdheim-chester disease 10.3 KRT1 KRT10
33 palmoplantar keratoderma, nonepidermolytic 10.3 KRT1 KRT10
34 hallucinogen abuse 10.3 ABCA12 TGM1
35 ciliary dyskinesia, primary, 1, with or without situs inversus 10.3 KRT1 KRT10
36 keratosis palmoplantaris striata iii 10.3 KRT1 KRT10 LOR
37 scott syndrome 10.3 KRT1 KRT10 KRT2
38 epidermolysis bullosa simplex-mp 10.3 KRT1 KRT10 KRT2
39 ectodermal dysplasia 2, clouston type 10.3 LOR TGM1
40 carotid artery thrombosis 10.3 KRT1 KRT10 LOR
41 subglottis verrucous carcinoma 10.3 KRT1 KRT10
42 mixed cell adenoma 10.3 KRT1 KRT10
43 cataract 15, multiple types 10.2 KRT2 KRT81 TGM1
44 pneumonia caused by pseudomonas aeruginosa infection 10.2 FLG KRT1
45 gaucher disease, type i 10.2 FLG LOR
46 chondrodysplasia punctata, x-linked recessive 10.2 FLG KRT10 TGM1
47 thymus mucoepidermoid carcinoma 10.2 FLG KRT1 KRT10
48 pachyonychia congenita 2 10.2 FLG KRT10 KRT2
49 cole-carpenter syndrome 1 10.2 FLG KRT1 KRT10
50 velocardiofacial syndrome 10.2 ABCA12 ABHD5 KRT2 TGM1

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:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 dry skin 56 32 Very frequent (99-80%) HP:0000958
3 chronic otitis media 56 32 Occasional (29-5%) HP:0000389
4 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
5 abnormality of the helix 56 32 Frequent (79-30%) HP:0011039
6 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
7 short stature 56 32 Occasional (29-5%) HP:0004322
8 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
9 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
10 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
11 dehydration 56 32 Occasional (29-5%) HP:0001944
12 abnormality of the nail 56 32 Very frequent (99-80%) HP:0001597
13 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
14 lack of skin elasticity 56 32 Very frequent (99-80%) HP:0100679
15 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
16 hypotrichosis 56 32 Very frequent (99-80%) HP:0001006
17 sepsis 56 32 Occasional (29-5%) HP:0100806
18 aplasia/hypoplasia of the eyebrow 56 32 Very frequent (99-80%) HP:0100840
19 sparse hair 56 32 Very frequent (99-80%) HP:0008070
20 ectropion 56 32 Very frequent (99-80%) HP:0000656
21 erythroderma 56 32 Very frequent (99-80%) HP:0001019
22 gangrene 56 32 Occasional (29-5%) HP:0100758

MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 SC5D SPINK5 TGM1 ABCA12 ABHD5 ALOX12B
2 mortality/aging MP:0010768 9.4 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 EBP

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved 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 Androgen Antagonists Phase 2, Phase 3
8 Androgens Phase 2, Phase 3
9 Antineoplastic Agents, Hormonal Phase 2, Phase 3
10 Dermatologic Agents Phase 2, Phase 3,Phase 1
11 Hormone Antagonists Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14 liarozole Phase 2, Phase 3
15 Cariostatic Agents Phase 3
16 Monolaurin Phase 3
17 Protective Agents Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
21
Adalimumab Approved Phase 2 331731-18-1 16219006
22 Analgesics Phase 1, Phase 2
23 Analgesics, Non-Narcotic Phase 1, Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
26 Antirheumatic Agents 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 22)
id Name Status NCT ID Phase
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
3 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3
4 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3
5 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2
6 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2
7 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Recruiting NCT02864082 Phase 2
8 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
9 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2
10 Clinical Trial Using Humira in Netherton Syndrome Active, not recruiting NCT02113904 Phase 2
11 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2
12 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1
13 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
14 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
15 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
16 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
17 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
18 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
19 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763
20 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
21 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
22 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: ichthyosis, lamellar

Genetic Tests for Congenital Ichthyosiform Erythroderma

Genetic tests related to Congenital Ichthyosiform Erythroderma:

id 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:

39
Skin, Eye, Testes, Kidney

Publications for Congenital Ichthyosiform Erythroderma

Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50) (show all 115)
id Title Authors Year
1
Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma. ( 27813222 )
2017
2
Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings. ( 26645853 )
2016
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
4
ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay. ( 25655901 )
2015
5
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
6
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
7
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
8
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
9
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. ( 23682801 )
2013
10
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
11
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2013
12
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. ( 22257947 )
2012
13
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. ( 21729033 )
2012
14
Improvement of nonbullous congenital ichthyosiform erythroderma following functional endoscopic sinus surgery. ( 21276063 )
2011
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
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. ( 20222929 )
2010
19
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ( 19262603 )
2009
20
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. ( 18435726 )
2009
21
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
22
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
23
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. ( 19689541 )
2009
24
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. ( 18498407 )
2008
25
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
26
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. ( 18284401 )
2008
27
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. ( 18279460 )
2008
28
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. ( 17970808 )
2008
29
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. ( 18347291 )
2008
30
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. ( 18219278 )
2008
31
Bullous congenital ichthyosiform erythroderma of Brocq. ( 17973888 )
2007
32
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. ( 17596149 )
2007
33
Multicystic dysplastic kidney in association with congenital ichthyosiform erythroderma. ( 19363284 )
2007
34
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. ( 17587848 )
2007
35
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. ( 17909341 )
2007
36
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. ( 17508018 )
2007
37
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. ( 16792775 )
2006
38
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. ( 16901309 )
2006
39
Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. ( 15953088 )
2005
40
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. ( 16361731 )
2005
41
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. ( 15347338 )
2004
42
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
43
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. ( 12588401 )
2003
44
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. ( 12636025 )
2003
45
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. ( 12823447 )
2003
46
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. ( 12780701 )
2003
47
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. ( 11773004 )
2002
48
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. ( 11990254 )
2002
49
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. ( 11703298 )
2001
50
Progressive macular leucoderma in a patient with congenital ichthyosiform erythroderma. ( 11422068 )
2001

Variations for Congenital Ichthyosiform Erythroderma

ClinVar genetic disease variations for Congenital Ichthyosiform Erythroderma:

6
id 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 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
3 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
4 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh37 Chromosome 14, 24724594: 24724594

Expression for Congenital Ichthyosiform Erythroderma

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

Pathways for Congenital Ichthyosiform Erythroderma

GO Terms for Congenital Ichthyosiform Erythroderma

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.88 CERS3 CYP4F22 EBP NSDHL SC5D SPINK5
2 intracellular membrane-bounded organelle GO:0043231 9.73 ABCA12 CYP4F22 EBP FLG SC5D SPINK5
3 keratin filament GO:0045095 9.54 KRT1 KRT2 KRT81
4 lipid particle GO:0005811 9.5 ABHD5 NSDHL PNPLA1
5 intermediate filament GO:0005882 9.35 FLG KRT1 KRT10 KRT2 KRT81
6 epidermal lamellar body GO:0097209 9.16 ABCA12 SPINK5
7 cornified envelope GO:0001533 9.1 FLG KRT1 KRT10 KRT2 LOR TGM1
8 cytosol GO:0005829 10.21 ABCA12 ABHD5 ALOX12B ALOXE3 FLG KRT1

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.95 ABCA12 KRT1 KRT10 KRT2 KRT81 LOR
2 keratinocyte differentiation GO:0030216 9.8 ABCA12 CERS3 FLG KRT10 LOR TGM1
3 fatty acid metabolic process GO:0006631 9.76 ABHD5 ALOX12B ALOXE3
4 steroid metabolic process GO:0008202 9.73 EBP NSDHL SC5D
5 steroid biosynthetic process GO:0006694 9.7 EBP NSDHL SC5D
6 establishment of skin barrier GO:0061436 9.65 ABCA12 ALOX12B ALOXE3 FLG KRT1
7 sterol biosynthetic process GO:0016126 9.63 EBP NSDHL SC5D
8 peptide cross-linking GO:0018149 9.63 FLG KRT1 KRT10 KRT2 LOR TGM1
9 ceramide biosynthetic process GO:0046513 9.61 ALOX12B ALOXE3 CERS3
10 lipid homeostasis GO:0055088 9.58 ABCA12 PNPLA1
11 arachidonic acid metabolic process GO:0019369 9.57 ALOX12B ALOXE3
12 linoleic acid metabolic process GO:0043651 9.55 ALOX12B ALOXE3
13 lipoxygenase pathway GO:0019372 9.54 ALOX12B ALOXE3
14 hepoxilin biosynthetic process GO:0051122 9.51 ALOX12B ALOXE3
15 cholesterol biosynthetic process via desmosterol GO:0033489 9.49 EBP SC5D
16 cholesterol biosynthetic process via lathosterol GO:0033490 9.48 EBP SC5D
17 skin epidermis development GO:0098773 9.35 FLG KRT1 KRT10 KRT2 LOR
18 cornification GO:0070268 9.23 FLG KRT1 KRT10 KRT2 KRT81 LOR
19 lipid metabolic process GO:0006629 10.02 ABHD5 ALOX12B ALOXE3 CERS3 EBP LIPN

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.77 ALOX12B ALOXE3 CYP4F22 NSDHL SC5D
2 iron ion binding GO:0005506 9.46 ALOX12B ALOXE3 CYP4F22 SC5D
3 structural molecule activity GO:0005198 9.35 FLG KRT1 KRT2 KRT81 LOR
4 triglyceride lipase activity GO:0004806 9.32 ABHD5 PNPLA1
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.26 ALOX12B ALOXE3
6 structural constituent of epidermis GO:0030280 9.02 FLG KRT1 KRT10 KRT2 LOR

Sources for Congenital Ichthyosiform Erythroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....