MCID: CNG008
MIFTS: 55

Congenital Ichthyosiform Erythroderma malady

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

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 23Genetics Home Reference, 51Orphanet, 65UMLS, 36MeSH, 24GTR, 47Novoseek, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 10 45 12
Lamellar Ichthyosis 10 45 23 51
Nonbullous Congenital Ichthyosiform Erythroderma 10 45 23
Ichthyosis, Lamellar 23 36 24
Li 45 23 51
Congenital Lamellar Ichthyosis 45 51
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 45
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 45
Congenital Non Bullous Ichthyosiform Erythroderma 10
Congenital Nonbullous Ichthyosiform Erythroderma 23
Ichthyosiform Erythroderma Nonbullous Congenital 47
Ichthyosiform Erythroderma, Congenital 65
 
Ichthyosiform Erythroderma Congenital 47
Lamellar Desquamation of the Newborn 10
Classic Lamellar Ichthyosis 51
Ichthyosiform Erythroderma 10
Collodion Baby Syndrome 23
Ichthyoses, Lamellar 23
Collodion Fetus 65
Alligator Skin 10
Collodion Baby 23
Nbcie 45
Ncie 45
Cie 45

Characteristics:

Orphanet epidemiological data:

51
lamellar ichthyosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood

Classifications:



External Ids:

Disease Ontology10 DOID:1699
ICD1027 Q80.2
NCIt42 C84805
Orphanet51 313
ICD10 via Orphanet28 Q80.2
MESH via Orphanet37 D017490
UMLS65 C0079154, C0079583, C3543867

Summaries for Congenital Ichthyosiform Erythroderma

About this section
Genetics Home Reference:23 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, congenital, autosomal recessive 3, and has symptoms including abnormality of the eyelid, dry skin and hyperkeratosis. An important gene associated with Congenital Ichthyosiform Erythroderma is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, breast and prostate, and related mouse phenotypes are integument and mortality/aging.

NIH Rare Diseases:45 Lamellar ichthyosis is a rare genetic condition that affects the skin. infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. the skin beneath the collodian membrane is red and scaly. other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the tgm1 gene. lamellar ichthyosis is generally inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 2/2/2016

Wikipedia:68 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... more...

Related Diseases for Congenital Ichthyosiform Erythroderma

About this section

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris32.3ABCA12, ALOX12B, ALOXE3, KRT10, LOR, TGM1
2ichthyosis, congenital, autosomal recessive 331.6ALOX12B, ALOXE3, TGM1
3ichthyosis, autosomal recessive 4b31.5ABCA12, TGM1
4palmoplantar keratoderma, epidermolytic30.8KRT1, KRT10, LOR, TGM1
5ichthyosis, cyclic, with epidermolytic hyperkeratosis30.2ABCA12, KRT1, KRT10, KRT2, LOR, TGM1
6acral self-healing collodion baby12.3
7ichthyosis lamellar 312.1
8ichthyosis lamellar 112.1
9ichthyosis lamellar 212.1
10ichthyosis lamellar, autosomal dominant12.1
11epidermolytic hyperkeratosis12.0
12epidermolytic ichthyosis11.7
13ichthyosis, congenital, autosomal recessive 211.5
14autosomal recessive congenital ichthyosis11.4
15krt1-related epidermolytic hyperkeratosis11.2
16krt10-related epidermolytic hyperkeratosis11.2
17acantholytic acanthoma10.8KRT1, KRT10
18frontotemporal lobar degeneration with ubiquitin-positive inclusions10.8KRT1, KRT10
19ichthyosis histrix, curth-macklin type10.8KRT1, KRT10
20drug psychosis10.8KRT1, KRT10
21diabetic polyneuropathy10.8ABCA12, TGM1
22vulvar clear cell hidradenocarcinoma10.7KRT1, KRT10
23telangiectasia, hereditary hemorrhagic, type 210.7KRT1, KRT2
24malouf syndrome10.7LOR, TGM1
25skin pilomatrix carcinoma10.7KRT1, KRT10
26epilepsy benign neonatal dominant form10.6KRT1, KRT10, KRT2
27epidermolysis bullosa simplex, dowling-meara type10.6KRT1, KRT10, KRT2
28spastic ectropion10.6ABCA12, TGM1
29bart-pumphrey syndrome10.6LOR, TGM1
30fallopian tube clear cell adenocarcinoma10.6ABCA12, TGM1
31braddock syndrome10.5IVL, KRT1
32coenzyme q10 deficiency disease10.5ABCA12, ABHD5
33colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.5KRT1, KRT10
34bowenoid papulosis10.4IVL, KRT1, KRT10
35inappropriate adh syndrome10.4KRT1, LOR
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 510.4
44diastrophic dysplasia10.3SPINK5, TGM1
45contact dermatitis10.2IVL, LOR
46fanconi anemia, complementation group b10.2KRT10, TGM1
47netherton syndrome10.2
48ichthyosis bullosa of siemens10.2
49rickets10.2
50chanarin-dorfman syndrome10.1

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:

 51 (show all 24)
  • absent/decreased/thin eyebrows
  • ectropion/entropion/eyelid eversion
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • tight skin/lack of elasticity
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • nails anomalies
  • autosomal recessive inheritance
  • everted lower lip
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • chronic/relapsing otitis
  • repeat respiratory infections
  • gangrena/necrosis
  • renal failure
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • musculo-tendinous retractions
  • short stature/dwarfism/nanism
  • dehydration/hydroelectrolytic loss
  • sepsis severe/septicemia

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 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 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
2Anticholesteremic AgentsPhase 41732
3Clofibric AcidPhase 419882-09-7
4Hypolipidemic AgentsPhase 42228
5AntimetabolitesPhase 49454
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
7liarozolePhase 2, Phase 31
8MonolaurinPhase 33
9HormonesPhase 2, Phase 311748
10Cariostatic AgentsPhase 3232
11Protective AgentsPhase 35651
12Androgen AntagonistsPhase 2, Phase 3252
13AndrogensPhase 2, Phase 31162
14Antineoplastic Agents, HormonalPhase 2, Phase 34256
15Dermatologic AgentsPhase 2, Phase 3, Phase 14555
16Hormone AntagonistsPhase 2, Phase 310002
17EmollientsPhase 3121
18
Tacrolimusapproved, investigationalPhase 1, Phase 21023104987-11-3445643, 439492, 445647
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
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
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
Hecoria
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
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
19
Pimecrolimusapproved, investigationalPhase 1, Phase 260137071-32-06447131, 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
20
AdalimumabapprovedPhase 2443331731-18-116219006
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
21Immunosuppressive AgentsPhase 1, Phase 210422
22Immunologic FactorsPhase 1, Phase 218483
23Peripheral Nervous System AgentsPhase 1, Phase 218510
24Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 23549
25AnalgesicsPhase 1, Phase 29358
26Calcineurin InhibitorsPhase 1, Phase 21223
27Analgesics, Non-NarcoticPhase 1, Phase 25184
28Anti-Inflammatory AgentsPhase 1, Phase 28478
29Antirheumatic AgentsPhase 1, Phase 28496
30Phase 2
31Pharmaceutical Solutions7004

Interventional clinical trials:

(show all 14)
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
5Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
6Clinical Trial Using Humira in Netherton SyndromeRecruitingNCT02113904Phase 2
7A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)Active, not recruitingNCT02402309Phase 2
8A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
9Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
10Study of Scaling Disorders and Other Inherited Skin DiseasesCompletedNCT00001292
11A Multi-center, Prospective Evaluation of Infants and Children With Congenital IchthyosisRecruitingNCT02655861
12Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
13Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
14National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma


Cochrane evidence based reviews: ichthyosis, lamellar

Genetic Tests for Congenital Ichthyosiform Erythroderma

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Anatomical Context for Congenital Ichthyosiform Erythroderma

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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

33
Skin, Breast, Prostate, Endothelial, Eye, Temporal lobe, Nk cells

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.8ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1
2MP:00107687.4ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1
3MP:00053767.3ABCA12, 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
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. (26379388)
2015
2
Non-bullous congenital ichthyosiform erythroderma. (25129016)
2014
3
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
2013
4
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. (23182068)
2013
5
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
2013
6
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
7
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. (21352327)
2011
8
Bullous congenital ichthyosiform erythroderma. (22253153)
2011
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
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
13
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
14
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
15
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
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
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. (17596149)
2007
19
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
20
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
21
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (16361731)
2005
22
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
23
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
24
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
2003
25
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
26
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
27
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
28
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
29
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
30
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. (11204523)
2000
31
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
32
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
1999
33
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
34
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
1998
35
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
1994
36
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
37
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
38
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
39
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
40
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
41
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
42
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
43
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
44
Congenital ichthyosiform erythroderma. (5923456)
1966
45
Congenital ichthyosiform erythroderma treated by hypnosis. (5907436)
1966
46
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. (13767211)
1961
47
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
1958
48
Bullous congenital ichthyosiform erythroderma. (13050146)
1953
49
Congenital ichthyosiform erythroderma. (14782713)
1950
50
Primary exfoliative dermatitis; Leiner's disease; congenital ichthyosiform erythroderma. (18886309)
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
1intermediate filamentGO:000588210.0KRT10, KRT2
2keratin filamentGO:00450959.9KRT1, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:004365110.5ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:005112210.5ALOX12B, ALOXE3
3lipoxygenase pathwayGO:001937210.5ALOX12B, ALOXE3
4sphingolipid metabolic processGO:000666510.1ALOX12B, ALOXE3
5keratinocyte differentiationGO:00302169.8ABCA12, TGM1

Sources for Congenital Ichthyosiform Erythroderma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet