MCID: CNG008
MIFTS: 52

Congenital Ichthyosiform Erythroderma malady

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

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 24Genetics Home Reference, 52Orphanet, 66UMLS, 25GTR, 37MeSH, 48Novoseek, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 11 46 13
Lamellar Ichthyosis 11 46 24 52
Nonbullous Congenital Ichthyosiform Erythroderma 11 46 24
Ichthyosiform Erythroderma, Congenital 25 37 66
Ichthyosis, Lamellar 24 25 37
Li 46 24 52
Congenital Nonbullous Ichthyosiform Erythroderma 24 25
Congenital Lamellar Ichthyosis 46 52
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 46
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 46
Congenital Non Bullous Ichthyosiform Erythroderma 11
Ichthyosiform Erythroderma Nonbullous Congenital 48
 
Lamellar Desquamation of the Newborn 11
Classic Lamellar Ichthyosis 52
Ichthyosiform Erythroderma 11
Collodion Baby Syndrome 24
Ichthyoses, Lamellar 24
Collodion Fetus 66
Collodion Baby 24
Alligator Skin 11
Nbcie 46
Ncie 46
Cie 46

Characteristics:

Orphanet epidemiological data:

52
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
ICD1028 Q80.2
NCIt43 C84805
Orphanet52 ORPHA313
ICD10 via Orphanet29 Q80.2
MESH via Orphanet38 D017490

Summaries for Congenital Ichthyosiform Erythroderma

About this section
Genetics Home Reference:24 Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).

MalaCards based summary: Congenital Ichthyosiform Erythroderma, also known as lamellar ichthyosis, is related to ichthyosis vulgaris and ichthyosis, autosomal recessive 4b, and has symptoms including abnormality of the eyelid, dry skin and hyperkeratosis. An important gene associated with Congenital Ichthyosiform Erythroderma is TGM1 (Transglutaminase 1), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, eye and testes, and related mouse phenotype integument.

NIH Rare Diseases:46 Nonbullous congenital ichthyosiform erythroderma (nbcie) is a specific type of ichthyosis mainly affecting the skin. most infants with nbcie are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). some people with nbcie also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). nbcie may be caused by mutations in any one of at least three genes: alox12b, aloxe3 or nipal4. in some people with nbcie, the cause of the disorder is unknown. last updated: 10/7/2011

Wikipedia:69 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris32.2ABCA12, FLG, KRT1, LOR, TGM1
2ichthyosis, autosomal recessive 4b31.0ABCA12, FLG, TGM1
3palmoplantar keratoderma, epidermolytic30.9KRT1, LOR
4ichthyosis, cyclic, with epidermolytic hyperkeratosis29.6ABCA12, FLG, KRT1, KRT10, KRT2, LOR
5acral self-healing collodion baby12.3
6ichthyosis lamellar 312.2
7ichthyosis lamellar 112.1
8ichthyosis lamellar 212.1
9ichthyosis lamellar, autosomal dominant12.1
10epidermolytic hyperkeratosis12.0
11epidermolytic ichthyosis11.7
12ichthyosis, congenital, autosomal recessive 211.5
13autosomal recessive congenital ichthyosis11.4
14krt1-related epidermolytic hyperkeratosis11.2
15krt10-related epidermolytic hyperkeratosis11.2
16ebola hemorrhagic fever10.8KRT1, KRT10
17ichthyosis histrix, curth-macklin type10.8KRT1, KRT10
18bradyopsia10.8KRT1, KRT10
19ocular motility disease10.8ABCA12, TGM1
20malignant cystic nephroma10.7KRT1, KRT10
21hemoglobin d disease10.7KRT1, KRT10
22cerebroretinal microangiopathy with calcifications and cysts10.7ALOX12B, ALOXE3, TGM1
23roussy-levy syndrome10.7LOR, TGM1
24telangiectasia, hereditary hemorrhagic, type 210.7KRT1, KRT10, KRT2
25normal pressure hydrocephalus10.7ABCA12, TGM1
26dupuytren contracture dupuytren contracture 1, included10.6IVL, TGM1
27epidermolysis bullosa simplex, dowling-meara type10.6KRT1, KRT10, KRT2
28ectodermal dysplasia 2, clouston type10.6LOR, TGM1
29uterine ligament clear cell adenocarcinoma10.5ABCA12, TGM1
30vitamin b12 deficiency10.5ABCA12, ABHD5
31ectodermal dysplasia 4, hair/nail type10.5KRT2, KRT81, TGM1
32follicular lymphoreticuloma10.4FLG, ST14
33freemartinism10.4FLG, KRT1, KRT10
34chondrodysplasia punctata, x-linked recessive10.4FLG, KRT10, TGM1
35colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.4KRT1, KRT10
36ichthyosis, congenital, autosomal recessive 4a10.4
37ichthyosis, congenital, autosomal recessive 610.4
38ichthyosis, congenital, autosomal recessive 1010.4
39ichthyosis, congenital, autosomal recessive 810.4
40ichthyosis, congenital, autosomal recessive 1110.4
41ichthyosis, congenital, autosomal recessive 110.4
42ichthyosis, congenital, autosomal recessive 910.4
43ichthyosis, congenital, autosomal recessive 310.4
44ichthyosis, congenital, autosomal recessive 510.4
45breast fibroadenoma10.3FLG, KRT1, KRT10
46kidney hemangiopericytoma10.3FLG, KRT1, KRT10
47diastrophic dysplasia10.3FLG, SPINK5, TGM1
48rectosigmoid junction neoplasm10.3FLG, LOR
49acute poisoning by drugs with membrane-stabilizing effect10.2FLG, IVL, KRT1
50brachydactyly type a310.2FLG, KRT1, KRT10, KRT2

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



Diseases related to congenital ichthyosiform erythroderma

Symptoms for Congenital Ichthyosiform Erythroderma

About this section

Symptoms:

 52 (show all 22)
  • renal insufficiency
  • abnormality of the teeth
  • everted lower lip vermilion
  • chronic otitis media
  • ectropion
  • dry skin
  • hyperkeratosis
  • pruritus
  • hypotrichosis
  • erythroderma
  • abnormality of the nail
  • dehydration
  • recurrent respiratory infections
  • short stature
  • ichthyosis
  • sparse hair
  • abnormality of the helix
  • cognitive impairment
  • lack of skin elasticity
  • gangrene
  • sepsis
  • aplasia/hypoplasia of the eyebrow

HPO human phenotypes related to Congenital Ichthyosiform Erythroderma:

(show all 20)
id Description Frequency HPO Source Accession
1 abnormality of the eyelid hallmark (90%) HP:0000492
2 dry skin hallmark (90%) HP:0000958
3 hyperkeratosis hallmark (90%) HP:0000962
4 pruritus hallmark (90%) HP:0000989
5 abnormality of the nail hallmark (90%) HP:0001597
6 ichthyosis hallmark (90%) HP:0008064
7 abnormal hair quantity hallmark (90%) HP:0011362
8 lack of skin elasticity hallmark (90%) HP:0100679
9 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
10 everted lower lip vermilion typical (50%) HP:0000232
11 abnormality of the helix typical (50%) HP:0011039
12 renal insufficiency occasional (7.5%) HP:0000083
13 abnormality of the teeth occasional (7.5%) HP:0000164
14 otitis media occasional (7.5%) HP:0000388
15 dehydration occasional (7.5%) HP:0001944
16 recurrent respiratory infections occasional (7.5%) HP:0002205
17 short stature occasional (7.5%) HP:0004322
18 cognitive impairment occasional (7.5%) HP:0100543
19 gangrene occasional (7.5%) HP:0100758
20 sepsis occasional (7.5%) HP:0100806

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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibratePhase 41241859-67-039042
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
2Clofibric acidPhase 420882-09-7
3liarozolePhase 2, Phase 31
4
TacrolimusPhase 1, Phase 21058104987-11-3445643, 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
5
EthanolPhase 2197164-17-5702
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
6
PimecrolimusPhase 1, Phase 262137071-32-06447131, 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
7
adalimumabPhase 2466331731-18-116219006
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

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar IchthyosisCompletedNCT00282724Phase 2, Phase 3
3Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisCompletedNCT00004690Phase 3
4Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousNot yet recruitingNCT01222000Phase 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
7Clinical Trial Using Humira in Netherton SyndromeActive, not recruitingNCT02113904Phase 2
8A Safety and Tolerability Study of Topical PAT-001 in Congenital IchthyosisNot yet recruitingNCT02864082Phase 2
9Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2
10A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
11Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
12Study of Scaling Disorders and Other Inherited Skin DiseasesCompletedNCT00001292
13Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American PopulationCompletedNCT01016106
14A Multi-center, Prospective Evaluation of Infants and Children With Congenital IchthyosisRecruitingNCT02655861
15Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
16International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related DiseasesRecruitingNCT02918032
17Clinical Study on the Safety of CNT-02 for TGCV and NLSD-MRecruitingNCT02830763
18Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
19National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma


Cochrane evidence based reviews: ichthyosiform erythroderma, congenital

Genetic Tests for Congenital Ichthyosiform Erythroderma

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Genetic tests related to Congenital Ichthyosiform Erythroderma:

id Genetic test Affiliating Genes
1 Lamellar Ichthyosis25
2 Congenital Nonbullous Ichthyosiform Erythroderma25
3 Congenital Ichthyosiform Erythroderma25

Anatomical Context for Congenital Ichthyosiform Erythroderma

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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

34
Skin, Eye, Testes, Kidney

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1

Publications for Congenital Ichthyosiform Erythroderma

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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings. (26645853)
2016
2
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
3
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. (25751346)
2015
4
Non-bullous congenital ichthyosiform erythroderma. (25129016)
2014
5
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
2013
6
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
2013
7
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
8
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. (20222929)
2010
9
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
10
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
2009
11
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. (18435726)
2009
12
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. (19635120)
2009
13
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
14
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
15
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. (18347291)
2008
16
Bullous congenital ichthyosiform erythroderma of Brocq. (17973888)
2007
17
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. (17909341)
2007
18
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. (17587848)
2007
19
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (17508018)
2007
20
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
21
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
22
Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. (15347338)
2004
23
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
2003
24
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
25
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. (12636025)
2003
26
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. (11990254)
2002
27
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (11531804)
2001
28
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
29
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
30
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
1999
31
Congenital ichthyosiform erythroderma: particulate staining pattern of TGK. (10659499)
1999
32
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
33
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. (9856846)
1998
34
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. (9036939)
1997
35
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). (7507152)
1994
36
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
37
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
38
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
39
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
40
Congenital ichthyosiform erythroderma and harlequin ichthyosis. (6680117)
1983
41
Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE). (160775)
1979
42
Oral retinoic acid as therapy for congenital ichthyosiform erythroderma. (1096928)
1975
43
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
44
The use of retinoic acid in congenital ichthyosiform erythroderma. (5783771)
1969
45
Nonbullous congenital ichthyosiform erythroderma: a case treated with methotrexate. (5635474)
1968
46
Congenital ichthyosiform erythroderma. (5923456)
1966
47
VARIATIONS OF CONGENITAL. ICHTHYOSIFORM ERYTHRODERMA. REPORT OF CASES OF ICHTHYOSIS HYSTRIX AND NEVUS UNIS LATERIS. (14237590)
1965
48
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA. CLINICAL & HISTOPATHOLOGICAL STUDY OF THIS DISEASE IN THE U.A.R. WITH REVIEW OF THE LITERATURE. (14162096)
1963
49
Congenital ichthyosiform erythroderma. (14770554)
1950
50
Congenital ichthyosiform erythroderma. (18886270)
1948

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

idSuper pathwaysScoreTop Affiliating Genes
110.1ALOX12B, ALOXE3

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:009720910.6ABCA12, SPINK5
2keratin filamentGO:00450959.8KRT1, KRT2, KRT81
3cornified envelopeGO:00015339.7IVL, LOR, TGM1
4lipid particleGO:00058119.6ABHD5, NSDHL, PNPLA1
5intermediate filamentGO:00058829.3FLG, KRT10, KRT2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:005112210.7ALOX12B, ALOXE3
2lipoxygenase pathwayGO:001937210.7ALOX12B, ALOXE3
3sphingolipid metabolic processGO:000666510.6ALOX12B, ALOXE3
4linoleic acid metabolic processGO:004365110.2ALOX12B, ALOXE3
5arachidonic acid metabolic processGO:001936910.1ALOX12B, ALOXE3
6peptide cross-linkingGO:00181499.9IVL, LOR, TGM1
7ceramide biosynthetic processGO:00465139.5ALOX12B, ALOXE3, CERS3
8keratinizationGO:00314249.5ABCA12, IVL, KRT2, LOR, TGM1
9establishment of skin barrierGO:00614369.3ABCA12, ALOX12B, ALOXE3, FLG, KRT1
10keratinocyte differentiationGO:00302168.4ABCA12, CERS3, FLG, IVL, KRT10, LOR

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:001670210.7ALOX12B, ALOXE3
2structural constituent of epidermisGO:003028010.6KRT10, LOR
3triglyceride lipase activityGO:000480610.3ABHD5, PNPLA1
4iron ion bindingGO:00055069.9ALOX12B, ALOXE3, CYP4F22
5structural molecule activityGO:00051988.8FLG, IVL, KRT1, KRT2, KRT81, LOR

Sources for Congenital Ichthyosiform Erythroderma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet