ARCI4B
MCID: ICH069
MIFTS: 51

Ichthyosis, Congenital, Autosomal Recessive 4b (ARCI4B)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory 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 57 72 29 6
Harlequin Ichthyosis 57 12 20 43 58 72 36 54
Autosomal Recessive Congenital Ichthyosis 4b 12 29 6 15
Harlequin Fetus 20 72 70 32
Hi 57 43 58 72
Ichthyosis Congenita, Harlequin Fetus Type 57 20 43
Arci4b 57 12 72
Harlequin Type Ichthyosis 73 70
Ichthyosis, Congenital, Autosomal Recessive, Type 4b 39
Ichthyosis Congenita Harlequin Fetus Type 72
Ichthyosis Congenita, Harlequin Type 58
Harlequin Type Ichthyosis Congenita 12
Ichthyosis Fetalis, Harlequin Type 58
Harlequin Type Ichthyosis Fetalis 12
Harlequin Ichthyosis; Hi 57
Harlequin Baby Syndrome 43
'harlequin Fetus' 57

Characteristics:

Orphanet epidemiological data:

58
harlequin ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
ichthyosis, congenital, autosomal recessive 4b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060713
OMIM® 57 242500
OMIM Phenotypic Series 57 PS242300
KEGG 36 H00733
MeSH 44 D017490
ICD10 32 Q80.4
ICD10 via Orphanet 33 Q80.4
UMLS via Orphanet 71 C0239849 C0598226
Orphanet 58 ORPHA457
UMLS 70 C0239849 C0598226

Summaries for Ichthyosis, Congenital, Autosomal Recessive 4b

OMIM® : 57 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) (Updated 20-May-2021)

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 Keratinization. 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.

MedlinePlus Genetics : 43 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.The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

GARD : 20 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.

KEGG : 36 Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborn with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes.

UniProtKB/Swiss-Prot : 72 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 : 73 Harlequin-type ichthyosis is a genetic disorder that 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 Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 31.6 TGM1 SNHG31 LORICRIN ABCA12
2 ichthyosis, congenital, autosomal recessive 2 31.6 SULT2B1 ALOXE3 ALOX12B
3 ectropion 30.8 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
4 skin disease 30.6 TGM1 LORICRIN IVL FLG ALOX12B ABCA12
5 ichthyosis, congenital, autosomal recessive 7 30.6 TGM1 SDR9C7 PNPLA1 NIPAL4 LIPN CYP4F22
6 keratosis 30.5 TGM1 LORICRIN IVL FLG ABCA12
7 ichthyosis, congenital, autosomal recessive 1 30.4 TGM1 SULT2B1 SDR9C7 PNPLA1 NIPAL4 CYP4F22
8 keratitis-ichthyosis-deafness syndrome, autosomal dominant 30.3 TGM1 CERS3
9 epidermolysis bullosa 30.2 LORICRIN IVL FLG
10 epidermolytic hyperkeratosis 30.0 TGM1 PNPLA1 NIPAL4 LORICRIN IVL FLG
11 autosomal recessive congenital ichthyosis 28.5 TGM1 SULT2B1 SNHG31 SDR9C7 PNPLA1 NIPAL4
12 ichthyosis 27.9 TGM1 SULT2B1 SNHG31 SDR9C7 PNPLA1 NIPAL4
13 isotretinoin syndrome 11.2
14 ichthyosis hystrix, curth-macklin type 11.1
15 ichthyosis hystrix gravior 11.1
16 ichthyosis, congenital, autosomal recessive 11 10.9
17 ichthyosis, congenital, autosomal recessive 5 10.9
18 ichthyosis, congenital, autosomal recessive 3 10.9
19 ichthyosis, congenital, autosomal recessive 6 10.9
20 ichthyosis, congenital, autosomal recessive 8 10.9
21 ichthyosis, congenital, autosomal recessive 9 10.9
22 ichthyosis, congenital, autosomal recessive 10 10.9
23 ichthyosis, congenital, autosomal recessive 12 10.9
24 nevus comedonicus 10.3 FLG ABCA12
25 autosomal recessive disease 10.3
26 elastosis perforans serpiginosa 10.3 TGM1 IVL
27 clear cell acanthoma 10.3 IVL FLG
28 juvenile rheumatoid arthritis 10.3
29 bleeding disorder, platelet-type, 8 10.3 ALOXE3 ALOX12B
30 ichthyosis lamellar 1 10.3
31 ainhum 10.2 PNPLA1 NIPAL4 LORICRIN
32 discoid lupus erythematosus 10.2 IVL FLG
33 x-linked chondrodysplasia punctata 2 10.2 TGM1 ALOXE3 ALOX12B ABCA12
34 stomach carcinoma in situ 10.2 LORICRIN IVL FLG
35 irritant dermatitis 10.2 LORICRIN IVL FLG
36 orofacial cleft 8 10.2 LORICRIN FLG
37 keratopathy 10.2
38 exposure keratitis 10.2
39 molluscum contagiosum 10.2 LORICRIN IVL FLG
40 erythrokeratodermia variabilis et progressiva 1 10.2 TGM1 NIPAL4 LORICRIN ABCA12
41 porokeratosis 10.2 LORICRIN IVL FLG
42 dermatitis, atopic, 2 10.2 LORICRIN FLG
43 epidermolysis bullosa simplex 10.1 LORICRIN IVL FLG
44 respiratory failure 10.1
45 oligohydramnios 10.1
46 dermatitis 10.1
47 alopecia 10.1
48 erythrokeratoderma ''en cocardes'' 10.1
49 self-improving collodion baby 10.1 TGM1 SULT2B1 ALOXE3 ALOX12B
50 skin atrophy 10.1 LORICRIN FLG

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
3 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
4 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
5 ectropion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000656
6 congenital ichthyosiform erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007431
7 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
8 erythroderma 58 31 frequent (33%) Frequent (79-30%) HP:0001019
9 eclabion 58 31 frequent (33%) Frequent (79-30%) HP:0012472
10 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
11 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
12 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
13 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
15 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
16 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
17 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
18 ichthyosis 58 Very frequent (99-80%)
19 everted lower lip vermilion 31 HP:0000232
20 proptosis 31 HP:0000520
21 short finger 31 HP:0009381
22 premature birth 31 HP:0001622
23 rigidity 31 HP:0002063

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Prenatal Manifestations Delivery:
premature birth

Head And Neck Mouth:
eclabium

Head And Neck Nose:
flattened
rudimentary

Skeletal Hands:
hypoplastic fingers
necrotic fingertips

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

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

Head And Neck Eyes:
bulging eyes
severe ectropion

Head And Neck Ears:
flattened
rudimentary

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

Skeletal Feet:
necrotic distal toes

Skin Nails Hair Skin Histology:
abnormal lamellar granule formation

Clinical features from OMIM®:

242500 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ABCA12 ABCA3 ABHD5 ALOX12B ALOXE3 CASP14
2 integument MP:0010771 9.4 ABCA12 ABHD5 ALOX12B ALOXE3 CASP14 CERS3

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

Search Clinical Trials , 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 29 ABCA12
2 Ichthyosis, Congenital, Autosomal Recessive 4b (harlequin) 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 4b

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

40
Skin, Eye, Heart

Publications for Ichthyosis, Congenital, Autosomal Recessive 4b

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

(show top 50) (show all 237)
# Title Authors PMID Year
1
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. 61 57 6 54
19664001 2009
2
ABCA12 is the major harlequin ichthyosis gene. 57 54 6 61
16902423 2006
3
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. 61 54 57 6
15756637 2005
4
Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice. 57 54 61
15044380 2004
5
The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. 61 54 57
12839564 2003
6
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. 57 61
21339420 2011
7
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. 61 57
20672373 2010
8
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 61 57
20643494 2010
9
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. 61 57
16007253 2005
10
A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification. 61 57
12393798 2002
11
Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin. 61 57
12208260 2002
12
De novo deletion of chromosome 18q in a baby with harlequin ichthyosis. 61 57
11503161 2001
13
Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. 61 57
9621376 1998
14
Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. 57 61
9212754 1997
15
Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. 61 57
1688598 1990
16
Prenatal diagnosis of harlequin ichthyosis. 57 61
7371219 1980
17
Management and follow-up of harlequin siblings. 57
8204475 1994
18
Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. 57
3186377 1988
19
Harlequin foetus in four siblings. 57
3580290 1987
20
Problems in prenatal diagnosis of the ichthyosis congenita group. 57
4077047 1985
21
Prenatal diagnosis of Harlequin fetus. 57
6129450 1983
22
Electron microscopy in the early diagnosis of genetic disorders of the skin. 57
78862 1978
23
The ichthyoses. 57
935508 1976
24
Lamellar ichthyosis of the newborn. A distinct clinical entity: its comparison to the other ichthyosiform erythrodermas. 57
4258930 1972
25
ICHTHYOSIS--LAMELLAR EXFOLIATIVE TYPE. 57
14096573 1963
26
Lamellar exfoliation of the newborn. 57
14360758 1955
27
Congenital ichthyosis. 57
14847077 1951
28
Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes. 54 61
19429679 2009
29
Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. 54 61
19179616 2009
30
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. 61 54
18632686 2008
31
PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. 61 54
17611579 2008
32
Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. 54 61
16847209 2006
33
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. 54 61
16675967 2006
34
The gene family of ABC transporters--novel mutations, new phenotypes. 54 61
15996518 2005
35
Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features. 61 54
15304084 2004
36
Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: case report. 61 54
9486708 1998
37
Protein phosphatase activity in human keratinocytes cultured from normal epidermis and epidermis from patients with harlequin ichthyosis. 61 54
9470902 1997
38
Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis. 61 54
9049047 1997
39
Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism. 54 61
7694551 1993
40
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle Eastern population. 61
33786896 2021
41
Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review. 61
33743627 2021
42
Ectropion surgery might not be a long-term solution for harlequin ichthyosis. 61
33296556 2021
43
Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report. 61
33569485 2021
44
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. 61
33435499 2021
45
Harlequin ichthyosis: A case report of severe presentation in Eritrea. 61
33235748 2020
46
Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis. 61
33294854 2020
47
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets. 61
32544098 2020
48
Harlequin ichthyosis from birth to 12 years. 61
32847877 2020
49
Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation. 61
32703355 2020
50
Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review. 61
32293521 2020

Variations for Ichthyosis, Congenital, Autosomal Recessive 4b

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) SNV Pathogenic 2862 rs137853289 GRCh37: 2:215818615-215818615
GRCh38: 2:214953891-214953891
2 ABCA12 NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) SNV Pathogenic 2863 rs267606622 GRCh37: 2:215855515-215855515
GRCh38: 2:214990791-214990791
3 ABCA12 NM_173076.2(ABCA12):c.986-?_1061+?del (p.Asp330_Gln354delinsSerfs) Deletion Pathogenic 2864 GRCh37: 2:215891663-215901676
GRCh38: 2:215026939-215036952
4 ABCA12 NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) SNV Pathogenic 264999 rs11891778 GRCh37: 2:215910574-215910574
GRCh38: 2:215045850-215045850
5 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) SNV Pathogenic 419453 rs199503269 GRCh37: 2:215802332-215802332
GRCh38: 2:214937608-214937608
6 ABCA12 NM_173076.3(ABCA12):c.5743dup (p.Ile1915fs) Duplication Pathogenic 617618 rs1559120651 GRCh37: 2:215833478-215833479
GRCh38: 2:214968754-214968755
7 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7323del (p.Val2442fs) Deletion Pathogenic 2859 rs387906284 GRCh37: 2:215809745-215809745
GRCh38: 2:214945021-214945021
8 ABCA12 NM_173076.3(ABCA12):c.5012del (p.Asn1671fs) Deletion Pathogenic 2860 rs387906285 GRCh37: 2:215843156-215843156
GRCh38: 2:214978432-214978432
9 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.6234-1G>C SNV Likely pathogenic 488389 rs1553520468 GRCh37: 2:215820086-215820086
GRCh38: 2:214955362-214955362
10 ABCA12 NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) SNV Likely pathogenic 2855 rs28940269 GRCh37: 2:215851290-215851290
GRCh38: 2:214986566-214986566
11 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) SNV Likely pathogenic 633801 rs761068277 GRCh37: 2:215809791-215809791
GRCh38: 2:214945067-214945067
12 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.5939+4A>G SNV Likely pathogenic 430629 rs1131692156 GRCh37: 2:215823744-215823744
GRCh38: 2:214959020-214959020
13 ABCA12 NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) SNV Likely pathogenic 633829 rs1559134341 GRCh37: 2:215855604-215855604
GRCh38: 2:214990880-214990880
14 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) SNV Likely pathogenic 633831 rs764355087 GRCh37: 2:215809821-215809821
GRCh38: 2:214945097-214945097
15 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) SNV Likely pathogenic 633832 rs771593783 GRCh37: 2:215809792-215809792
GRCh38: 2:214945068-214945068
16 ABCA12 NM_173076.3(ABCA12):c.1918dup (p.Leu640fs) Duplication Likely pathogenic 804393 rs1574984736 GRCh37: 2:215880251-215880252
GRCh38: 2:215015527-215015528
17 ABCA12 NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=) SNV Uncertain significance 633830 rs1459045233 GRCh37: 2:215838673-215838673
GRCh38: 2:214973949-214973949
18 ABCA12 NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) SNV Uncertain significance 334234 rs151083083 GRCh37: 2:215838687-215838687
GRCh38: 2:214973963-214973963
19 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro) SNV Uncertain significance 633802 rs1559098040 GRCh37: 2:215798809-215798809
GRCh38: 2:214934085-214934085
20 ABCA12 NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn) SNV Uncertain significance 633828 rs1559141294 GRCh37: 2:215868933-215868933
GRCh38: 2:215004209-215004209
21 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys) SNV Uncertain significance 931786 GRCh37: 2:215797431-215797431
GRCh38: 2:214932707-214932707
22 ABCA12 , SNHG31 NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) SNV Benign 2861 rs726070 GRCh37: 2:215813331-215813331
GRCh38: 2:214948607-214948607
23 ABCA12 NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr) SNV Benign 930799 GRCh37: 2:215884432-215884432
GRCh38: 2:215019708-215019708

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

72
# Symbol AA change Variation ID SNP ID
1 ABCA12 p.Ser387Asn VAR_067076 rs746315995
2 ABCA12 p.Gly1179Arg VAR_067078 rs267606622

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:

36
# 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
Show member pathways
11.48 TGM1 LORICRIN IVL FLG CASP14
2 10.32 ALOXE3 ALOX12B

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 intracellular membrane-bounded organelle GO:0043231 9.43 SULT2B1 LIPN CYP4F22 ABHD5 ABCA3 ABCA12
2 cornified envelope GO:0001533 9.02 TGM1 LORICRIN IVL FLG CST6

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 SULT2B1 PNPLA1 LIPN CERS3 ALOXE3 ALOX12B
2 keratinization GO:0031424 9.8 TGM1 LORICRIN IVL CASP14 ABCA12
3 epidermis development GO:0008544 9.7 CST6 CERS3 CASP14
4 ceramide biosynthetic process GO:0046513 9.65 PNPLA1 CYP4F22 CERS3 ALOXE3 ALOX12B
5 sphingolipid metabolic process GO:0006665 9.63 CERS3 ALOXE3 ALOX12B
6 peptide cross-linking GO:0018149 9.62 TGM1 LORICRIN IVL FLG
7 lipid homeostasis GO:0055088 9.61 PNPLA1 ABHD5 ABCA12
8 linoleic acid metabolic process GO:0043651 9.55 ALOXE3 ALOX12B
9 establishment of skin barrier GO:0061436 9.55 PNPLA1 FLG ALOXE3 ALOX12B ABCA12
10 positive regulation of cholesterol efflux GO:0010875 9.54 ABCA3 ABCA12
11 lipoxygenase pathway GO:0019372 9.51 ALOXE3 ALOX12B
12 cornification GO:0070268 9.5 TGM1 LORICRIN LIPN IVL FLG CERS3
13 surfactant homeostasis GO:0043129 9.49 ABCA3 ABCA12
14 hepoxilin biosynthetic process GO:0051122 9.48 ALOXE3 ALOX12B
15 keratinocyte differentiation GO:0030216 9.17 TGM1 PNPLA1 LORICRIN IVL FLG CERS3

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.33 CYP4F22 ALOXE3 ALOX12B
2 lipid transporter activity GO:0005319 9.32 ABCA3 ABCA12
3 triglyceride lipase activity GO:0004806 9.26 PNPLA1 ABHD5
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.96 ALOXE3 ALOX12B
5 structural constituent of epidermis GO:0030280 8.8 PNPLA1 LORICRIN FLG

Sources for Ichthyosis, Congenital, Autosomal Recessive 4b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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