MCID: ICH049
MIFTS: 38

Ichthyosis, Congenital, Autosomal Recessive 2 malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

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

Name: Ichthyosis, Congenital, Autosomal Recessive 2 49 11 67 24 65
Self-Healing Collodion Baby 51 67 65
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 67
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 67
Ichthyosiform Erythroderma, Congenital 67
 
Iecn1 67
Ncie1 67
Arci2 67
Shcb 51
Cie 67

Characteristics:

Orphanet epidemiological data:

51
self-healing collodion baby:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
ichthyosis, congenital, autosomal recessive 2:
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 242100
Orphanet51 281122
ICD10 via Orphanet28 Q80.2
MedGen34 C1855792
MeSH36 D017490
UMLS65 C1855789, C3888093

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

About this section
OMIM:49 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 ichthyosis, congenital, autosomal recessive 3 and acral self-healing collodion baby, 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, t cells and breast, and related mouse phenotype integument.

UniProtKB/Swiss-Prot:67 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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 330.7ALOX12B, ALOXE3, TGM1
2acral self-healing collodion baby12.7
3ichthyosis, congenital, autosomal recessive 111.7
4congenital ichthyosiform erythroderma11.5
5autosomal recessive congenital ichthyosis10.9
6bubonic plague9.9
7cholera9.9
8plague9.9
9endocrine gland cancer8.9ALOX12B, ALOXE3, TGM1
10ichthyosis vulgaris8.8ALOX12B, ALOXE3, TGM1
11brca1 and brca2 hereditary breast and ovarian cancer8.7ALOX12B, 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:

 51
  • ichthyosis/ichthyosiform dermatitis
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance

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 short finger rare (5%) HP:0009381
5 short toe rare (5%) HP:0001831
6 thin nail rare (5%) HP:0001816
7 small nail rare (5%) HP:0001792
8 ectropion rare (5%) HP:0000656
9 everted lower lip vermilion rare (5%) HP:0000232
10 congenital nonbullous ichthyosiform erythroderma HP:0007479
11 congenital ichthyosiform erythroderma HP:0007431
12 paralysis HP:0003470
13 external genital hypoplasia HP:0003241
14 abnormality of the hair HP:0001595
15 growth delay HP:0001510
16 intellectual disability HP:0001249
17 palmoplantar keratoderma HP:0000982

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 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
6Dermatologic AgentsPhase 2, Phase 3, Phase 14555
7Hormone AntagonistsPhase 2, Phase 310002
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
9Antineoplastic Agents, HormonalPhase 2, Phase 34256
10HormonesPhase 2, Phase 311748
11liarozolePhase 2, Phase 31
12Cariostatic AgentsPhase 3232
13MonolaurinPhase 33
14Protective AgentsPhase 35651
15Androgen AntagonistsPhase 2, Phase 3252
16AndrogensPhase 2, Phase 31162
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
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
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 Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

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

33
Skin, T cells, Breast

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ALOX12B, ALOXE3, TGM1

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

Variations for Ichthyosis, Congenital, Autosomal Recessive 2

About this section

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

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1ALOX12Bp.Leu426ProVAR_015173
2ALOX12Bp.His578GlnVAR_015174
3ALOX12Bp.Leu24ProVAR_069545
4ALOX12Bp.Ile67PheVAR_069546
5ALOX12Bp.Arg114TrpVAR_069547
6ALOX12Bp.Pro127SerVAR_069548rs72842957
7ALOX12Bp.Phe195LeuVAR_069549rs200516538
8ALOX12Bp.Tyr318CysVAR_069550
9ALOX12Bp.Lys382GluVAR_069551
10ALOX12Bp.Thr383MetVAR_069552
11ALOX12Bp.Asn416LysVAR_069553
12ALOX12Bp.Gly462AspVAR_069554
13ALOX12Bp.Arg488HisVAR_069555
14ALOX12Bp.Tyr521CysVAR_069556
15ALOX12Bp.Val527MetVAR_069557
16ALOX12Bp.Ala597GluVAR_069558
17ALOX12Bp.Ala664ProVAR_069559
18ALOX12Bp.Arg679LeuVAR_069560

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 pathogenicrs199545653GRCh37Chr 17, 7978988: 7978988
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

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

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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:00436519.6ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:00511229.6ALOX12B, ALOXE3
3lipoxygenase pathwayGO:00193729.6ALOX12B, ALOXE3
4sphingolipid metabolic processGO:00066659.3ALOX12B, ALOXE3

Sources for Ichthyosis, Congenital, Autosomal Recessive 2

About this section
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