LI
MCID: CNG008
MIFTS: 56

Congenital Ichthyosiform Erythroderma (LI) malady

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

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 11 48 13
Lamellar Ichthyosis 11 48 25 54
Nonbullous Congenital Ichthyosiform Erythroderma 11 48 25
Ichthyosiform Erythroderma, Congenital 27 39 68
Ichthyosis, Lamellar 25 27 39
Li 48 25 54
Congenital Nonbullous Ichthyosiform Erythroderma 25 27
Congenital Lamellar Ichthyosis 48 54
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 48
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 48
Congenital Non Bullous Ichthyosiform Erythroderma 11
Ichthyosiform Erythroderma Nonbullous Congenital 50
 
Lamellar Desquamation of the Newborn 11
Classic Lamellar Ichthyosis 54
Ichthyosiform Erythroderma 11
Collodion Baby Syndrome 25
Ichthyoses, Lamellar 25
Collodion Fetus 68
Collodion Baby 25
Alligator Skin 11
Nbcie 48
Ncie 48
Cie 48

Characteristics:

Orphanet epidemiological data:

54
lamellar ichthyosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood

Classifications:



External Ids:

Disease Ontology11 DOID:1699
ICD1030 Q80.2
NCIt45 C84805
Orphanet54 ORPHA313
MESH via Orphanet40 D017490
ICD10 via Orphanet31 Q80.2

Summaries for Congenital Ichthyosiform Erythroderma

About this section
NIH Rare Diseases:48 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 Array, Array and Array. 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 Terpenoid backbone biosynthesis. Affiliated tissues include skin, eye and testes, and related mouse 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

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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 94)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, autosomal recessive 4b32.3ABCA12, TGM1
2squamous cell carcinoma30.3KRT1, KRT10
3acral self-healing collodion baby12.2
4epidermolytic hyperkeratosis12.1
5ichthyosis lamellar 312.0
6ichthyosis lamellar 112.0
7ichthyosis lamellar 212.0
8ichthyosis lamellar, autosomal dominant11.9
9ichthyosis, congenital, autosomal recessive 211.9
10epidermolytic ichthyosis11.6
11ichthyosis vulgaris11.4
12autosomal recessive congenital ichthyosis11.3
13ichthyosis, congenital, autosomal recessive 4a11.2
14ichthyosis, congenital, autosomal recessive 611.2
15ichthyosis, congenital, autosomal recessive 1011.2
16ichthyosis, congenital, autosomal recessive 811.2
17ichthyosis, congenital, autosomal recessive 1111.2
18ichthyosis, congenital, autosomal recessive 111.2
19ichthyosis, congenital, autosomal recessive 911.2
20ichthyosis, congenital, autosomal recessive 311.2
21ichthyosis, congenital, autosomal recessive 511.2
22krt1-related epidermolytic hyperkeratosis11.0
23krt10-related epidermolytic hyperkeratosis11.0
24chanarin-dorfman syndrome11.0
25ichthyosis, congenital, autosomal recessive 711.0
26ichthyosis, cyclic, with epidermolytic hyperkeratosis11.0
27palmoplantar keratoderma, epidermolytic11.0
28ichthyosis hystrix gravior11.0
29ichthyosis10.5
30bradyopsia10.3KRT1, KRT10
31roussy-levy syndrome10.3LOR, TGM1
32erdheim-chester disease10.3KRT1, KRT10
33palmoplantar keratoderma, nonepidermolytic10.3KRT1, KRT10
34hallucinogen abuse10.3ABCA12, TGM1
35ciliary dyskinesia, primary, 1, with or without situs inversus10.3KRT1, KRT10
36keratosis palmoplantaris striata iii10.3KRT1, KRT10, LOR
37scott syndrome10.3KRT1, KRT10, KRT2
38epidermolysis bullosa simplex-mp10.3KRT1, KRT10, KRT2
39ectodermal dysplasia 2, clouston type10.3LOR, TGM1
40carotid artery thrombosis10.3KRT1, KRT10, LOR
41subglottis verrucous carcinoma10.3KRT1, KRT10
42mixed cell adenoma10.3KRT1, KRT10
43cataract 15, multiple types10.2KRT2, KRT81, TGM1
44pneumonia caused by pseudomonas aeruginosa infection10.2FLG, KRT1
45gaucher disease, type i10.2FLG, LOR
46chondrodysplasia punctata, x-linked recessive10.2FLG, KRT10, TGM1
47thymus mucoepidermoid carcinoma10.2FLG, KRT1, KRT10
48pachyonychia congenita 210.2FLG, KRT10, KRT2
49cole-carpenter syndrome 110.2FLG, KRT1, KRT10
50velocardiofacial syndrome10.2ABCA12, 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

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Human phenotypes related to Congenital Ichthyosiform Erythroderma:

 54 64 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Occasional (29-5%) HP:0000083
2 abnormality of the teeth64 54 Occasional (29-5%) HP:0000164
3 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
4 chronic otitis media64 54 Occasional (29-5%) HP:0000389
5 ectropion64 54 Very frequent (99-80%) HP:0000656
6 dry skin64 54 Very frequent (99-80%) HP:0000958
7 hyperkeratosis64 54 Very frequent (99-80%) HP:0000962
8 pruritus64 54 Very frequent (99-80%) HP:0000989
9 hypotrichosis64 54 Very frequent (99-80%) HP:0001006
10 erythroderma64 54 Very frequent (99-80%) HP:0001019
11 abnormality of the nail64 54 Very frequent (99-80%) HP:0001597
12 dehydration64 54 Occasional (29-5%) HP:0001944
13 recurrent respiratory infections64 54 Occasional (29-5%) HP:0002205
14 short stature64 54 Occasional (29-5%) HP:0004322
15 ichthyosis64 54 Very frequent (99-80%) HP:0008064
16 sparse hair64 54 Very frequent (99-80%) HP:0008070
17 abnormality of the helix64 54 Frequent (79-30%) HP:0011039
18 cognitive impairment64 54 Occasional (29-5%) HP:0100543
19 lack of skin elasticity64 54 Very frequent (99-80%) HP:0100679
20 gangrene64 54 Occasional (29-5%) HP:0100758
21 sepsis64 54 Occasional (29-5%) HP:0100806
22 aplasia/hypoplasia of the eyebrow64 54 Very frequent (99-80%) HP:0100840

MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, EBP
2MP:00107687.4ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, EBP

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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

(show all 33)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
2Anticholesteremic AgentsPhase 4, Phase 22025
3Hypolipidemic AgentsPhase 4, Phase 22785
4Lipid Regulating AgentsPhase 4, Phase 22766
5Clofibric AcidPhase 422882-09-7
6AntimetabolitesPhase 4, Phase 212054
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 313168
8liarozolePhase 2, Phase 31
9MonolaurinPhase 33
10HormonesPhase 2, Phase 314415
11Cariostatic AgentsPhase 3333
12Protective AgentsPhase 37443
13Hormone AntagonistsPhase 2, Phase 313180
14Androgen AntagonistsPhase 2, Phase 3320
15AndrogensPhase 2, Phase 31321
16Dermatologic AgentsPhase 2, Phase 3, Phase 15806
17Antineoplastic Agents, HormonalPhase 2, Phase 35592
18
Pimecrolimusapproved, investigationalPhase 1, Phase 263137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
19
Tacrolimusapproved, investigationalPhase 1, Phase 21102104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
20
EthanolapprovedPhase 2213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
21
AdalimumabapprovedPhase 2494331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
22Immunosuppressive AgentsPhase 1, Phase 213086
23Peripheral Nervous System AgentsPhase 1, Phase 223689
24Antirheumatic AgentsPhase 1, Phase 210956
25Calcineurin InhibitorsPhase 1, Phase 21622
26Analgesics, Non-NarcoticPhase 1, Phase 26501
27Anti-Inflammatory AgentsPhase 1, Phase 210729
28AnalgesicsPhase 1, Phase 211733
29Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 24443
30Pharmaceutical SolutionsPhase 28192
31AntibodiesPhase 26394
32Antibodies, MonoclonalPhase 24039
33ImmunoglobulinsPhase 26394

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousUnknown statusNCT01222000Phase 3
3Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar IchthyosisCompletedNCT00282724Phase 2, Phase 3
4Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisCompletedNCT00004690Phase 3
5A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)CompletedNCT02402309Phase 2
6Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
7A Safety and Tolerability Study of Topical PAT-001 in Congenital IchthyosisRecruitingNCT02864082Phase 2
8The Efficacy and Safety of Secukinumab in Patients With IchthyosesRecruitingNCT03041038Phase 2
9A Six Week Topical Cream Study for Subjects With Ichthyosis VulgarisRecruitingNCT03173547Phase 2
10Clinical Trial Using Humira in Netherton SyndromeActive, not recruitingNCT02113904Phase 2
11Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2
12A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
13Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
14National Registry for Ichthyosis and Related DisordersUnknown statusNCT00074685
15Study of Scaling Disorders and Other Inherited Skin DiseasesCompletedNCT00001292
16Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American PopulationCompletedNCT01016106
17A Multi-center, Prospective Evaluation of Infants and Children With Congenital IchthyosisRecruitingNCT02655861
18International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related DiseasesRecruitingNCT02918032
19Clinical Study on the Safety of CNT-02 for TGCV and NLSD-MRecruitingNCT02830763
20Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
21Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
22Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis VulgarisEnrolling by invitationNCT02978209

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma


Cochrane evidence based reviews: ichthyosis, lamellar

Genetic Tests for Congenital Ichthyosiform Erythroderma

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Genetic tests related to Congenital Ichthyosiform Erythroderma:

id Genetic test Affiliating Genes
1 Lamellar Ichthyosis27
2 Congenital Nonbullous Ichthyosiform Erythroderma27
3 Congenital Ichthyosiform Erythroderma27

Anatomical Context for Congenital Ichthyosiform Erythroderma

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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

36
Skin, Eye, Testes, Kidney

Publications for Congenital Ichthyosiform Erythroderma

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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 115)
idTitleAuthorsYear
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

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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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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
1epidermal lamellar bodyGO:009720910.8ABCA12, SPINK5
2keratin filamentGO:004509510.3KRT1, KRT2, KRT81
3intermediate filamentGO:00058829.9FLG, KRT1, KRT10, KRT2, KRT81
4cornified envelopeGO:00015339.9FLG, KRT1, KRT10, KRT2, LOR, TGM1
5lipid particleGO:00058119.6ABHD5, NSDHL, PNPLA1
6endoplasmic reticulum membraneGO:00057899.4CERS3, CYP4F22, EBP, NSDHL, SC5D, SPINK5
7intracellular membrane-bounded organelleGO:00432319.3ABCA12, CYP4F22, EBP, FLG, SC5D, SPINK5
8cytosolGO:00058298.5ABCA12, ABHD5, ALOX12B, ALOXE3, FLG, KRT1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1arachidonic acid metabolic processGO:001936910.9ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:005112210.9ALOX12B, ALOXE3
3linoleic acid metabolic processGO:004365110.8ALOX12B, ALOXE3
4lipoxygenase pathwayGO:001937210.8ALOX12B, ALOXE3
5lipid homeostasisGO:005508810.7ABCA12, PNPLA1
6fatty acid metabolic processGO:000663110.6ABHD5, ALOX12B, ALOXE3
7ceramide biosynthetic processGO:004651310.6ALOX12B, ALOXE3, CERS3
8cholesterol biosynthetic process via desmosterolGO:003348910.4EBP, SC5D
9cholesterol biosynthetic process via lathosterolGO:003349010.4EBP, SC5D
10establishment of skin barrierGO:006143610.1ABCA12, ALOX12B, ALOXE3, FLG, KRT1
11steroid biosynthetic processGO:000669410.0EBP, NSDHL, SC5D
12skin epidermis developmentGO:00987739.8FLG, KRT1, KRT10, KRT2, LOR
13steroid metabolic processGO:00082029.8EBP, NSDHL, SC5D
14keratinizationGO:00314249.7ABCA12, KRT1, KRT10, KRT2, KRT81, LOR
15keratinocyte differentiationGO:00302169.7ABCA12, CERS3, FLG, KRT10, LOR, TGM1
16peptide cross-linkingGO:00181499.7FLG, KRT1, KRT10, KRT2, LOR, TGM1
17sterol biosynthetic processGO:00161269.4EBP, NSDHL, SC5D
18cornificationGO:00702689.3FLG, KRT1, KRT10, KRT2, KRT81, LOR
19lipid metabolic processGO:00066298.6ABHD5, ALOX12B, ALOXE3, CERS3, EBP, LIPN

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:001670210.8ALOX12B, ALOXE3
2iron ion bindingGO:000550610.3ALOX12B, ALOXE3, CYP4F22, SC5D
3oxidoreductase activityGO:00164919.9ALOX12B, ALOXE3, CYP4F22, NSDHL, SC5D
4triglyceride lipase activityGO:00048069.9ABHD5, PNPLA1
5structural constituent of epidermisGO:00302809.8FLG, KRT1, KRT10, KRT2, LOR
6structural molecule activityGO:00051989.5FLG, KRT1, KRT2, KRT81, LOR

Sources for Congenital Ichthyosiform Erythroderma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet