MCID: ICH049
MIFTS: 38

Ichthyosis, Congenital, Autosomal Recessive 2 malady

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

About this section
Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ichthyosis, Congenital, Autosomal Recessive 2:

Name: Ichthyosis, Congenital, Autosomal Recessive 2 50 68 25 12
Self-Healing Collodion Baby 52 68 66
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 68
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 68
Ichthyosiform Erythroderma, Congenital 68
Ichthyosiform Erythroderma Congenital 48
 
Iecn1 68
Ncie1 68
Arci2 68
Shcb 52
Cie 68

Characteristics:

Orphanet epidemiological data:

52
self-healing collodion baby:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ichthyosis, congenital, autosomal recessive 2:
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 242100
Orphanet52 ORPHA281122
ICD10 via Orphanet29 Q80.2
MedGen35 C1855792
MeSH37 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

About this section
OMIM:50 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized... (242100) more...

MalaCards based summary: Ichthyosis, Congenital, Autosomal Recessive 2, also known as self-healing collodion baby, is related to acral self-healing collodion baby and ichthyosis, congenital, autosomal recessive 1, and has symptoms including hypohidrosis, limitation of joint mobility and ichthyosis. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, and related mouse phenotype integument.

UniProtKB/Swiss-Prot:68 Ichthyosis, congenital, autosomal recessive 2: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

Diseases in the Ichthyosis, Acquired family:

Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 9 ichthyosis, congenital, autosomal recessive 2
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 5
Autosomal Recessive Congenital Ichthyosis Abca12-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Pnpla1-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acral self-healing collodion baby12.7
2ichthyosis, congenital, autosomal recessive 111.5
3ichthyosis, congenital, autosomal recessive 311.5
4congenital ichthyosiform erythroderma11.5
5autosomal recessive congenital ichthyosis10.2
6steroid inherited metabolic disorder8.9ALOX12B, ALOXE3, TGM1
7cerebroretinal microangiopathy with calcifications and cysts8.8ALOX12B, ALOXE3, TGM1
8bscl2-related neurologic disorders/seipinopathy8.6ALOX12B, ALOXE3, TGM1

Graphical network of diseases related to Ichthyosis, Congenital, Autosomal Recessive 2:



Diseases related to ichthyosis, congenital, autosomal recessive 2

Symptoms for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

Symptoms by clinical synopsis from OMIM:

242100

Clinical features from OMIM:

242100

Symptoms:

 52
  • limitation of joint mobility
  • ichthyosis

HPO human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

(show all 17)
id Description Frequency HPO Source Accession
1 hypohidrosis hallmark (90%) HP:0000966
2 limitation of joint mobility hallmark (90%) HP:0001376
3 ichthyosis hallmark (90%) HP:0008064
4 everted lower lip vermilion rare (5%) HP:0000232
5 ectropion rare (5%) HP:0000656
6 small nail rare (5%) HP:0001792
7 thin nail rare (5%) HP:0001816
8 short toe rare (5%) HP:0001831
9 short finger rare (5%) HP:0009381
10 palmoplantar keratoderma HP:0000982
11 intellectual disability HP:0001249
12 growth delay HP:0001510
13 abnormality of the hair HP:0001595
14 external genital hypoplasia HP:0003241
15 paralysis HP:0003470
16 congenital ichthyosiform erythroderma HP:0007431
17 congenital nonbullous ichthyosiform erythroderma HP:0007479

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

Drugs for Ichthyosis, Congenital, Autosomal Recessive 2 (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
2Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisCompletedNCT00004690Phase 3
3Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar IchthyosisCompletedNCT00282724Phase 2, Phase 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
12Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American PopulationCompletedNCT01016106
13Study of Scaling Disorders and Other Inherited Skin DiseasesCompletedNCT00001292
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 Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

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Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 2:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 225

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

34
Skin

Animal Models for Ichthyosis, Congenital, Autosomal Recessive 2 or affiliated genes

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MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ALOX12B, ALOXE3, TGM1

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

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Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1ALOX12Bp.Leu426ProVAR_015173rs137853023
2ALOX12Bp.His578GlnVAR_015174rs137853024
3ALOX12Bp.Leu24ProVAR_069545rs201575829
4ALOX12Bp.Ile67PheVAR_069546rs397514533
5ALOX12Bp.Arg114TrpVAR_069547rs397514526
6ALOX12Bp.Pro127SerVAR_069548rs72842957
7ALOX12Bp.Phe195LeuVAR_069549rs200516538
8ALOX12Bp.Tyr318CysVAR_069550
9ALOX12Bp.Lys382GluVAR_069551
10ALOX12Bp.Thr383MetVAR_069552rs760428119
11ALOX12Bp.Asn416LysVAR_069553
12ALOX12Bp.Gly462AspVAR_069554rs774958790
13ALOX12Bp.Arg488HisVAR_069555rs763468558
14ALOX12Bp.Tyr521CysVAR_069556rs199766569
15ALOX12Bp.Val527MetVAR_069557rs199545653
16ALOX12Bp.Ala597GluVAR_069558rs752509098
17ALOX12Bp.Ala664ProVAR_069559
18ALOX12Bp.Arg679LeuVAR_069560rs397514528

Clinvar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1ALOX12BNM_001139.2(ALOX12B): c.1579G> A (p.Val527Met)single nucleotide variantLikely pathogenicrs199545653GRCh38Chr 17, 8075670: 8075670
2ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
3ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
4ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
5ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
6ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
7ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
8ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
9ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
10ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
11ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
12ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
13ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
14ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996

Expression for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 2.

Pathways for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3ALOX12B, ALOXE3

GO Terms for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:005112210.0ALOX12B, ALOXE3
2lipoxygenase pathwayGO:001937210.0ALOX12B, ALOXE3
3sphingolipid metabolic processGO:00066659.9ALOX12B, ALOXE3
4linoleic acid metabolic processGO:00436519.8ALOX12B, ALOXE3
5arachidonic acid metabolic processGO:00193699.8ALOX12B, ALOXE3
6ceramide biosynthetic processGO:00465139.8ALOX12B, ALOXE3
7establishment of skin barrierGO:00614369.7ALOX12B, ALOXE3
8oxidation-reduction processGO:00551149.3ALOX12B, ALOXE3

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 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:00167029.8ALOX12B, ALOXE3
2iron ion bindingGO:00055069.3ALOX12B, ALOXE3

Sources for Ichthyosis, Congenital, Autosomal Recessive 2

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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