ARCI4B
MCID: ICH069
MIFTS: 48

Ichthyosis, Congenital, Autosomal Recessive 4b (ARCI4B)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 4b

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 4b:

Name: Ichthyosis, Congenital, Autosomal Recessive 4b 58 76
Harlequin Ichthyosis 58 12 54 26 60 76 38 56
Autosomal Recessive Congenital Ichthyosis 4b 12 30 6 15
Hi 58 26 60 76
Ichthyosis Congenita, Harlequin Fetus Type 58 54 26
Harlequin Fetus 54 76 74
Arci4b 58 12 76
Harlequin Type Ichthyosis 77 74
Ichthyosis, Congenital, Autosomal Recessive, Type 4b 41
Ichthyosis Congenita Harlequin Fetus Type 76
Ichthyosis Congenita, Harlequin Type 60
Harlequin Type Ichthyosis Congenita 12
Ichthyosis Fetalis, Harlequin Type 60
Harlequin Type Ichthyosis Fetalis 12
Harlequin Ichthyosis; Hi 58
Harlequin Baby Syndrome 26
'harlequin Fetus' 58

Characteristics:

Orphanet epidemiological data:

60
harlequin ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
patients are susceptible to sepsis and dehydration
patients are prone to impaired thermoregulation
usually fatal within the first few weeks of life
surviving infants develop severe nonbullous ichthyosiform erythroderma


HPO:

33
ichthyosis, congenital, autosomal recessive 4b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 4b

OMIM : 58 Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see 242300) (summary by Rajpopat et al., 2011). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (242500)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 4b, also known as harlequin ichthyosis, is related to ichthyosis, congenital, autosomal recessive 4a and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4b is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are ABC transporters and Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, eye and heart, and related phenotypes are recurrent respiratory infections and hyperkeratosis

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has material basis in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

Genetics Home Reference : 26 Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

NIH Rare Diseases : 54 Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern. 

UniProtKB/Swiss-Prot : 76 Ichthyosis, congenital, autosomal recessive 4B: A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma.

Wikipedia : 77 Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire... more...

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 4b

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 4b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 31.6 ABCA12 TGM1
2 ichthyosis, congenital, autosomal recessive 2 30.8 ALOX12B ALOXE3 TGM1
3 ectropion 30.2 ABCA12 TGM1
4 ichthyosis, congenital, autosomal recessive 1 29.6 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
5 skin disease 29.3 ABCA12 ALOX12B FLG TGM1
6 ichthyosis 28.1 ABCA12 ALOX12B ALOXE3 CYP4F22 FLG NIPAL4
7 isotretinoin syndrome 11.3
8 ichthyosis hystrix, curth-macklin type 11.2
9 ichthyosis hystrix gravior 11.2
10 ichthyosis, congenital, autosomal recessive 11 11.0
11 ichthyosis, congenital, autosomal recessive 5 11.0
12 ichthyosis, congenital, autosomal recessive 3 11.0
13 ichthyosis, congenital, autosomal recessive 6 11.0
14 ichthyosis, congenital, autosomal recessive 8 11.0
15 ichthyosis, congenital, autosomal recessive 7 11.0
16 ichthyosis, congenital, autosomal recessive 9 11.0
17 ichthyosis, congenital, autosomal recessive 10 11.0
18 ichthyosis, congenital, autosomal recessive 12 11.0
19 arthritis 10.2
20 dermatitis 10.2
21 juvenile rheumatoid arthritis 10.2
22 ichthyosis lamellar 1 10.1
23 rheumatoid arthritis 10.1
24 distal arthrogryposis 10.1
25 heart disease 10.1
26 cicatricial ectropion 10.1
27 hypothyroidism 10.1
28 pleural empyema 10.1
29 compartment syndrome 10.1
30 localized scleroderma 10.1
31 herpes simplex 10.1
32 nevus comedonicus 10.0 ABCA12 FLG
33 eyelid disease 10.0 ABCA12 TGM1
34 neu-laxova syndrome 1 10.0
35 polydactyly 10.0
36 renal dysplasia 10.0
37 ichthyosis, x-linked 9.9 FLG TGM1
38 netherton syndrome 9.8 FLG TGM1
39 self-improving collodion baby 9.5 ALOX12B ALOXE3 TGM1
40 ichthyosis vulgaris 9.2 ALOX12B ALOXE3 FLG TGM1
41 autosomal recessive congenital ichthyosis 8.4 ABCA12 ALOX12B ALOXE3 CYP4F22 FLG NIPAL4

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 4b:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 4b

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 4b

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 4b:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
3 hearing abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000364
4 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
5 ectropion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000656
6 congenital ichthyosiform erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007431
7 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
8 erythroderma 60 33 frequent (33%) Frequent (79-30%) HP:0001019
9 eclabion 60 33 frequent (33%) Frequent (79-30%) HP:0012472
10 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
11 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
12 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
13 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
14 dehydration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001944
15 malignant hyperthermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002047
16 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
17 foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001829
18 ichthyosis 60 Very frequent (99-80%)
19 everted lower lip vermilion 33 HP:0000232
20 rigidity 33 HP:0002063
21 proptosis 33 HP:0000520
22 short finger 33 HP:0009381
23 premature birth 33 HP:0001622

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Delivery:
premature birth

Skin Nails Hair Skin:
collodion membrane at birth
harlequin fetus
large diamond-shaped plaques

Head And Neck Ears:
flattened
rudimentary

Skeletal Limbs:
constricting bands around extremities at birth
semiflexed rigid limbs

Skeletal Feet:
necrotic distal toes

Laboratory Abnormalities:
tonofibril defect (cross-beta-protein structure)

Head And Neck Eyes:
bulging eyes
severe ectropion

Head And Neck Mouth:
eclabium

Head And Neck Nose:
flattened
rudimentary

Skeletal Hands:
hypoplastic fingers
necrotic fingertips

Skin Nails Hair Skin Histology:
abnormal lamellar granule formation

Clinical features from OMIM:

242500

MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 4b:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ABCA12 ALOX12B ALOXE3 NIPAL4 TGM1

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 4b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685

Search NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 4b

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 4b

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 4b:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 4b 30 ABCA12

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 4b

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 4b:

42
Skin, Eye, Heart

Publications for Ichthyosis, Congenital, Autosomal Recessive 4b

Articles related to Ichthyosis, Congenital, Autosomal Recessive 4b:

(show top 50) (show all 131)
# Title Authors Year
1
Congenital heart disease in harlequin ichthyosis: Case series. ( 31041289 )
2019
2
Prenatal sonographic diagnosis of Harlequin ichthyosis. ( 30508257 )
2019
3
Two successive cases of fetal harlequin ichthyosis: A case report. ( 30651820 )
2019
4
ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids. ( 30809833 )
2019
5
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations. ( 30916489 )
2019
6
A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment. ( 30925591 )
2019
7
A novel pig model capturing clinical symptoms of harlequin ichthyosis. ( 31065689 )
2019
8
An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis. ( 30168192 )
2018
9
Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family. ( 29880184 )
2018
10
Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup. ( 30241690 )
2018
11
Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. ( 29298786 )
2018
12
Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. ( 29377090 )
2018
13
Surgical management of the hand manifestations of Harlequin ichthyosis. ( 29510450 )
2018
14
Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis. ( 29710282 )
2018
15
A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis. ( 29720920 )
2018
16
Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. ( 27999114 )
2017
17
Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene. ( 28295493 )
2017
18
A profile of lipid dysregulation in harlequin ichthyosis. ( 28493316 )
2017
19
Harlequin ichthyosis: A rare case. ( 28913151 )
2017
20
Harlequin Ichthyosis - A Case Report. ( 29341518 )
2017
21
A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications. ( 27536717 )
2016
22
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. ( 27551807 )
2016
23
Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations. ( 26473995 )
2016
24
Facial features in Harlequin ichthyosis: Clinical findings about 4 cases. ( 26740202 )
2016
25
Cover image: Unpeeling the layers of harlequin ichthyosis. ( 27206363 )
2016
26
Generalized morphea in a child with harlequin ichthyosis: a rare association. ( 27267339 )
2016
27
Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis. ( 27381714 )
2016
28
Harlequin Ichthyosis: A Surgical Perspective. ( 27470191 )
2016
29
A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis. ( 25563821 )
2015
30
Obstetric anesthesia for harlequin ichthyosis: a unique challenge. ( 25611001 )
2015
31
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. ( 25857373 )
2015
32
Treatment of Harlequin Ichthyosis With Acitretin. ( 25917960 )
2015
33
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis. ( 26675324 )
2015
34
Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis. ( 25209981 )
2015
35
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis. ( 25479012 )
2015
36
Harlequin ichthyosis in an infant born to a father with eczema. ( 25539778 )
2015
37
Techniques for toddlers: linear band incision for harlequin ichthyosis with associated compartment syndrome. ( 25187390 )
2014
38
Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family. ( 26078676 )
2014
39
Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. ( 24274932 )
2014
40
High survival rate of harlequin ichthyosis in Japan. ( 24438961 )
2014
41
A case of harlequin ichthyosis treated with isotretinoin. ( 24612573 )
2014
42
Harlequin ichthyosis: a case report of prolonged survival. ( 24717853 )
2014
43
Recent advances in the genetics and management of harlequin ichthyosis. ( 24920541 )
2014
44
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis. ( 24055722 )
2013
45
Improving outcomes for harlequin ichthyosis. ( 24124810 )
2013
46
Harlequin ichthyosis: Case report. ( 24520234 )
2013
47
Harlequin ichthyosis: a case report. ( 24553270 )
2013
48
Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report. ( 24926185 )
2013
49
Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. ( 22864982 )
2013
50
Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis. ( 23200509 )
2013

Variations for Ichthyosis, Congenital, Autosomal Recessive 4b

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4b:

76
# Symbol AA change Variation ID SNP ID
1 ABCA12 p.Ser387Asn VAR_067076 rs746315995
2 ABCA12 p.Gly1179Arg VAR_067078 rs267606622

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4b:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA12 NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28940269 GRCh37 Chromosome 2, 215851290: 215851290
2 ABCA12 NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28940269 GRCh38 Chromosome 2, 214986566: 214986566
3 ABCA12 NM_173076.2(ABCA12): c.7323delC (p.Val2442Serfs) deletion Pathogenic rs387906284 GRCh37 Chromosome 2, 215809745: 215809745
4 ABCA12 NM_173076.2(ABCA12): c.7323delC (p.Val2442Serfs) deletion Pathogenic rs387906284 GRCh38 Chromosome 2, 214945021: 214945021
5 ABCA12 NM_173076.2(ABCA12): c.5012delA (p.Asn1671Ilefs) deletion Pathogenic rs387906285 GRCh37 Chromosome 2, 215843156: 215843156
6 ABCA12 NM_173076.2(ABCA12): c.5012delA (p.Asn1671Ilefs) deletion Pathogenic rs387906285 GRCh38 Chromosome 2, 214978432: 214978432
7 ABCA12 NM_173076.2(ABCA12): c.7093G> A (p.Asp2365Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs726070 GRCh37 Chromosome 2, 215813331: 215813331
8 ABCA12 NM_173076.2(ABCA12): c.7093G> A (p.Asp2365Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs726070 GRCh38 Chromosome 2, 214948607: 214948607
9 ABCA12 NM_173076.2(ABCA12): c.6610C> T (p.Arg2204Ter) single nucleotide variant Pathogenic rs137853289 GRCh37 Chromosome 2, 215818615: 215818615
10 ABCA12 NM_173076.2(ABCA12): c.6610C> T (p.Arg2204Ter) single nucleotide variant Pathogenic rs137853289 GRCh38 Chromosome 2, 214953891: 214953891
11 ABCA12 NM_173076.2(ABCA12): c.3535G> A (p.Gly1179Arg) single nucleotide variant Pathogenic rs267606622 GRCh37 Chromosome 2, 215855515: 215855515
12 ABCA12 NM_173076.2(ABCA12): c.3535G> A (p.Gly1179Arg) single nucleotide variant Pathogenic rs267606622 GRCh38 Chromosome 2, 214990791: 214990791
13 ABCA12 NM_173076.2(ABCA12): c.986-?_1061+?del (p.Asp330_Gln354delinsSerfs) deletion Pathogenic GRCh37 Chromosome 2, 215891663: 215901676
14 ABCA12 NM_173076.2(ABCA12): c.986-?_1061+?del (p.Asp330_Gln354delinsSerfs) deletion Pathogenic GRCh38 Chromosome 2, 215026939: 215036952
15 ABCA12 NM_173076.2(ABCA12): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs11891778 GRCh37 Chromosome 2, 215910574: 215910574
16 ABCA12 NM_173076.2(ABCA12): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs11891778 GRCh38 Chromosome 2, 215045850: 215045850
17 ABCA12 NM_173076.2(ABCA12): c.7444C> T (p.Arg2482Ter) single nucleotide variant Pathogenic rs199503269 GRCh38 Chromosome 2, 214937608: 214937608
18 ABCA12 NM_173076.2(ABCA12): c.7444C> T (p.Arg2482Ter) single nucleotide variant Pathogenic rs199503269 GRCh37 Chromosome 2, 215802332: 215802332
19 ABCA12 NM_173076.2(ABCA12): c.5939+4A> G single nucleotide variant Likely pathogenic rs1131692156 GRCh38 Chromosome 2, 214959020: 214959020
20 ABCA12 NM_173076.2(ABCA12): c.5939+4A> G single nucleotide variant Likely pathogenic rs1131692156 GRCh37 Chromosome 2, 215823744: 215823744
21 ABCA12 NM_173076.2(ABCA12): c.6234-1G> C single nucleotide variant Likely pathogenic rs1553520468 GRCh37 Chromosome 2, 215820086: 215820086
22 ABCA12 NM_173076.2(ABCA12): c.6234-1G> C single nucleotide variant Likely pathogenic rs1553520468 GRCh38 Chromosome 2, 214955362: 214955362
23 ABCA12 NM_173076.3(ABCA12): c.5743dup (p.Ile1915Asnfs) duplication Pathogenic GRCh38 Chromosome 2, 214968755: 214968755
24 ABCA12 NM_173076.3(ABCA12): c.5743dup (p.Ile1915Asnfs) duplication Pathogenic GRCh37 Chromosome 2, 215833479: 215833479

Expression for Ichthyosis, Congenital, Autosomal Recessive 4b

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 4b.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 4b

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 4b according to KEGG:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ALOX12B ALOXE3

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 4b

Cellular components related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 FLG TGM1

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 ALOX12B ALOXE3 CYP4F22
2 fatty acid metabolic process GO:0006631 9.51 ALOX12B ALOXE3
3 cornification GO:0070268 9.48 FLG TGM1
4 peptide cross-linking GO:0018149 9.46 FLG TGM1
5 sphingolipid metabolic process GO:0006665 9.43 ALOX12B ALOXE3
6 ceramide biosynthetic process GO:0046513 9.4 ALOX12B ALOXE3
7 arachidonic acid metabolic process GO:0019369 9.37 ALOX12B ALOXE3
8 keratinocyte differentiation GO:0030216 9.33 ABCA12 FLG TGM1
9 linoleic acid metabolic process GO:0043651 9.32 ALOX12B ALOXE3
10 lipoxygenase pathway GO:0019372 9.26 ALOX12B ALOXE3
11 hepoxilin biosynthetic process GO:0051122 8.96 ALOX12B ALOXE3
12 establishment of skin barrier GO:0061436 8.92 ABCA12 ALOX12B ALOXE3 FLG

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 ALOX12B ALOXE3 CYP4F22
2 dioxygenase activity GO:0051213 9.16 ALOX12B ALOXE3
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.96 ALOX12B ALOXE3
4 iron ion binding GO:0005506 8.8 ALOX12B ALOXE3 CYP4F22

Sources for Ichthyosis, Congenital, Autosomal Recessive 4b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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