XLI
MCID: ICH054
MIFTS: 52

Ichthyosis, X-Linked (XLI)

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

Aliases & Classifications for Ichthyosis, X-Linked

MalaCards integrated aliases for Ichthyosis, X-Linked:

Name: Ichthyosis, X-Linked 57 73 13 44 39 71
X-Linked Ichthyosis 12 74 20 58 36 15 32
Placental Steroid Sulfatase Deficiency 57 20 73 71
Steroid Sulfatase Deficiency 57 20 58 73
Steroid Sulfatase Deficiency Disease 57 20 71
Sts Deficiency 57 6
Ssdd 57 20
Xli 57 58
Recessive X-Linked Ichthyosis with Extracutaneous Manifestations 58
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency 12
X-Linked Placental Steryl-Sulphatase Deficiency 12
Steroid Sulfatase Deficiency Disease; Ssdd 57
Syndromic Recessive X-Linked Ichthyosis 58
X-Linked Recessive Ichthyosis 12
Recessive X-Linked Ichthyosis 58
X-Linked Ichthyosis Syndrome 58
X Linked Ichthyosis 20
Ichthyosis X-Linked 54
Syndromic Rxli 58
Rxli 58
Ssd 20
Ixl 73

Characteristics:

Orphanet epidemiological data:

58
recessive x-linked ichthyosis
Inheritance: X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;
syndromic recessive x-linked ichthyosis
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
onset soon after birth or within the first year of life
symptoms improve during the summer
most (80 to 90%) of cases result from deletions of the sts gene
incidence of 1 in 6,000 males
a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3


HPO:

31
ichthyosis, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


Summaries for Ichthyosis, X-Linked

OMIM® : 57 X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis. (308100) (Updated 05-Mar-2021)

MalaCards based summary : Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to keratosis and chondrodysplasia punctata syndrome. An important gene associated with Ichthyosis, X-Linked is STS (Steroid Sulfatase), and among its related pathways/superpathways are Steroid hormone biosynthesis and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include eye, skin and testis, and related phenotypes are ichthyosis and hyperkeratosis

Disease Ontology : 12 An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has material basis in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.

GARD : 20 X-linked ichthyosis is a disorder in which the skin cells are produced at a normal rate but they do not separate properly at the surface of the stratum corneum (the outermost layer of the skin). This slows the rate of shedding of the skin cells, resulting in a build-up of scales. The scales of X-linked ichthyosis are often dark and usually cover only a portion of the body. Typically, the trunk and back of the neck are more likely to be affected. Scales are usually not found on the face, scalp, palms of the hands, and soles of the feet. X-linked ichthyosis mostly affects males. It is usually caused by a mutation or deletion in the STS gene and is inherited in an X-linked recessive manner. In rare cases, the ichthyosis can be part of a genetic syndrome in which other parts of the body are affected. Topical treatment may consist of alpha-hydroxy acids, lubricating bath oils, and emollients. For adult patients, systemic retinoids may be an option, especially during winter when the ichthyosis is often more severe. The ichthyosis is life-long, but the scaling may improve with age.

KEGG : 36 X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism.

UniProtKB/Swiss-Prot : 73 Ichthyosis, X-linked: A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.

Wikipedia : 74 X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the... more...

Related Diseases for Ichthyosis, X-Linked

Diseases related to Ichthyosis, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 keratosis 31.0 TGM1 FLG ABCA12
2 chondrodysplasia punctata syndrome 30.6 STS ARSH
3 multiple sulfatase deficiency 30.4 SUMF1 STS ARSH
4 kallmann syndrome 30.4 VCX3B VCX3A VCX2 TGM1 STS PUDP
5 skin disease 30.3 TGM1 STS FLG ALOX12B ABCA12
6 ichthyosis 30.2 VCX3B VCX3A VCX2 VCX TGM1 SUMF1
7 autosomal recessive congenital ichthyosis 30.2 TGM1 STS PNPLA1 NIPAL4 FLG ALOXE3
8 ichthyosis vulgaris 30.0 TGM1 STS PNPLA1 NIPAL4 FLG ALOXE3
9 chondrodysplasia punctata with steroid sulfatase deficiency 11.3
10 ichthyosis, x-linked, without steroid sulfatase deficiency 11.2
11 xp22.3 microdeletion syndrome 11.1
12 myopathy, myosin storage, autosomal dominant 10.4 STS ARSH
13 ainhum 10.4 PNPLA1 NIPAL4
14 nevus comedonicus 10.4 FLG ABCA12
15 erythrokeratoderma 10.4 PNPLA1 FLG
16 erythrokeratodermia variabilis et progressiva 1 10.3 TGM1 NIPAL4 ABCA12
17 ichthyosis, congenital, autosomal recessive 4a 10.3 TGM1 ABCA12
18 metachromatic leukodystrophy 10.3 SUMF1 STS ARSH
19 ichthyosis, congenital, autosomal recessive 2 10.3 ALOXE3 ALOX12B
20 hypogonadism 10.3
21 erythrokeratoderma ''en cocardes'' 10.3
22 alopecia 10.3
23 acrokeratosis verruciformis 10.3 TGM1 NIPAL4 ALOX12B ABCA12
24 bleeding disorder, platelet-type, 8 10.3 ALOXE3 ALOX12B
25 x-linked chondrodysplasia punctata 2 10.3 TGM1 ALOXE3 ALOX12B ABCA12
26 pyloric stenosis 10.2
27 corneal dystrophy 10.2
28 epidermolytic hyperkeratosis 10.2 TGM1 STS PNPLA1 NIPAL4 FLG
29 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2 NIPAL4 ALOXE3 ALOX12B ABCA12
30 alopecia, androgenetic, 1 10.2
31 androgenic alopecia 10.2
32 mucopolysaccharidosis, type iva 10.2 SUMF1 ARSH
33 self-improving collodion baby 10.2 TGM1 ALOXE3 ALOX12B
34 hypertrophic pyloric stenosis 10.2
35 dermatitis 10.2
36 mood disorder 10.2
37 pre-descemet corneal dystrophy 10.2
38 anencephaly 10.1
39 smith-lemli-opitz syndrome 10.1
40 opitz gbbb syndrome, type i 10.1
41 ichthyosis, congenital, autosomal recessive 7 10.1 TGM1 PNPLA1 NIPAL4 ALOXE3 ALOX12B ABCA12
42 ichthyosis, congenital, autosomal recessive 1 10.1 TGM1 PNPLA1 NIPAL4 ALOXE3 ALOX12B ABCA12
43 ectropion 10.1 TGM1 PNPLA1 NIPAL4 ALOXE3 ALOX12B ABCA12
44 eyelid disease 10.1 TGM1 PNPLA1 NIPAL4 ALOXE3 ALOX12B ABCA12
45 ige responsiveness, atopic 10.1
46 renal hypodysplasia/aplasia 1 10.1
47 epidermolysis bullosa dystrophica 10.1
48 ichthyosis, congenital, autosomal recessive 4b 10.1 TGM1 PNPLA1 NIPAL4 FLG ALOXE3 ALOX12B
49 mucopolysaccharidosis, type vi 10.1 SUMF1 ARSH
50 autism x-linked 2 10.0

Graphical network of the top 20 diseases related to Ichthyosis, X-Linked:



Diseases related to Ichthyosis, X-Linked

Symptoms & Phenotypes for Ichthyosis, X-Linked

Human phenotypes related to Ichthyosis, X-Linked:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
2 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000962
3 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
4 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000966
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 dysphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002357
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
9 opacification of the corneal stroma 58 31 frequent (33%) Frequent (79-30%) HP:0007759
10 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007018
11 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
12 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
13 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
14 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000028
15 autism 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000717
16 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
17 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
18 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
19 lissencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001339
20 abdominal wall defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0010866
21 testicular seminoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100617
22 seizure 31 occasional (7.5%) HP:0001250
23 abnormal stomach morphology 31 occasional (7.5%) HP:0002577
24 seizures 58 Occasional (29-5%)
25 neoplasm 31 HP:0002664
26 abnormality of metabolism/homeostasis 31 HP:0001939
27 congenital ichthyosiform erythroderma 31 HP:0007431
28 abnormality of the abdominal wall 58 Occasional (29-5%)
29 abnormality of the stomach 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
ichthyosis
skin lesions are usually symmetrical
lesions occur mainly on extremities, scalp, neck, and trunk
sparing of flexure areas, palms, and soles
lesions are often brownish colored

Head And Neck Eyes:
corneal opacities on slit-lamp examination
vision is usually not affected

Prenatal Manifestations Delivery:
protracted delivery

Genitourinary Internal Genitalia Male:
cryptorchidism

Neoplasia:
increased risk of testicular cancer

Laboratory Abnormalities:
pregnant mothers of affected children have decreased plasma and urinary estrogen
decreased or absent steroid sulfatase activity

Clinical features from OMIM®:

308100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Ichthyosis, X-Linked

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685

Search NIH Clinical Center for Ichthyosis, X-Linked

Cochrane evidence based reviews: ichthyosis, x-linked

Genetic Tests for Ichthyosis, X-Linked

Anatomical Context for Ichthyosis, X-Linked

MalaCards organs/tissues related to Ichthyosis, X-Linked:

40
Eye, Skin, Testis, Bone, Small Intestine, Placenta, Testes

Publications for Ichthyosis, X-Linked

Articles related to Ichthyosis, X-Linked:

(show top 50) (show all 414)
# Title Authors PMID Year
1
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 57 6 61 54
9252398 1997
2
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. 61 54 57 6
1539590 1992
3
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. 6 57
3032454 1987
4
Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. 57 54 61
18076704 2008
5
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. 57 54 61
15888481 2005
6
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. 61 54 57
11477606 2001
7
Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. 57 54 61
10692123 2000
8
A model of corrective gene transfer in X-linked ichthyosis. 57 54 61
9175741 1997
9
X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. 54 61 57
8588575 1995
10
A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. 57 54 61
8615047 1995
11
Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis. 61 54 57
7943126 1994
12
Inherited ichthyosis: Non-syndromic forms. 61 57
26945532 2016
13
Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. 61 57
15733277 2005
14
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. 61 57
10922387 2000
15
X-linked ichthyosis: an update. 57 61
10583107 1999
16
Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. 61 57
9804339 1998
17
A family with X-linked ichthyosis and hypogonadism. 61 57
2493379 1989
18
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency). 61 57
3169744 1988
19
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. 57 61
3165728 1988
20
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. 61 57
3480263 1987
21
X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. 57 61
3477126 1987
22
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). 57 61
2884621 1987
23
Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. 57 61
3034252 1987
24
X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928. 61 57
3479355 1987
25
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. 57 61
3007328 1986
26
A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. 61 57
3516063 1986
27
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. 61 57
3864397 1985
28
Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families. 61 57
3868422 1985
29
Abnormal androgen and oestrogen metabolism in men with steroid sulphatase deficiency and recessive X-linked ichthyosis. 57 61
3864567 1985
30
Steroid sulphatase deficiency disease. 57 61
2866054 1985
31
Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein. 57 61
3864728 1985
32
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. 57 61
3860470 1985
33
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. 57 61
6592175 1984
34
Topical cholesterol treatment of recessive X-linked ichthyosis. 61 57
6139672 1983
35
Steroid sulphatase deficiency associated with testis cancer. 61 57
6140547 1983
36
A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis. 57 61
6573909 1983
37
Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers. 61 57
6682359 1983
38
Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion. 57 61
6947719 1981
39
X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. 57 61
6945674 1981
40
X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. 57 61
7196302 1981
41
Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. 57 61
6948769 1981
42
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. 61 57
6929654 1980
43
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 61 57
6930361 1980
44
Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis? 61 57
517522 1979
45
Non-inactivation of an x-chromosome locus in man. 61 57
156396 1979
46
Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis. 61 57
575348 1979
47
Enzymatic basis of typical X-linked ichthyosis. 57 61
82112 1978
48
Enzymatic basis of typical X-linked icthyosis. 57 61
80684 1978
49
X-linked ichthyosis. 57 61
889699 1977
50
X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. 57 61
5307231 1969

Variations for Ichthyosis, X-Linked

ClinVar genetic disease variations for Ichthyosis, X-Linked:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STS NM_000351.6(STS):c.1114T>A (p.Trp372Arg) SNV Pathogenic 10552 rs137853165 X:7243397-7243397 X:7325356-7325356
2 STS NM_000351.6(STS):c.1337G>A (p.Cys446Tyr) SNV Pathogenic 10553 rs137853166 X:7252107-7252107 X:7334066-7334066
3 STS NM_000351.6(STS):c.1022C>T (p.Ser341Leu) SNV Pathogenic 10554 rs137853167 X:7223150-7223150 X:7305109-7305109
4 STS NM_000351.6(STS):c.1115G>C (p.Trp372Ser) SNV Pathogenic 10555 rs137853168 X:7243398-7243398 X:7325357-7325357
5 STS NM_000351.6(STS):c.1331A>G (p.His444Arg) SNV Pathogenic 10556 rs137853169 X:7252101-7252101 X:7334060-7334060
6 STS NM_000351.6(STS):c.1256+1G>T SNV Pathogenic 10557 rs1601748137 X:7243540-7243540 X:7325499-7325499
7 LOC106029241 NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del Deletion Pathogenic 188047 X:6499768-8193324
8 LOC106029241 NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del Deletion Pathogenic 188048 X:6560264-8193324
9 LOC113875037 NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del Deletion Pathogenic 188049 X:6674278-7922037
10 LOC106029240 NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del Deletion Pathogenic 188050 X:6500268-7762747
11 PUDP GRCh37/hg19 Xp22.31(chrX:6696168-7396902) copy number loss Pathogenic 625642 X:6696168-7396902
12 PNPLA4 GRCh37/hg19 Xp22.31(chrX:6497085-8135053) copy number loss Pathogenic 625682 X:6497085-8135053
13 PNPLA4 GRCh37/hg19 Xp22.31(chrX:6497085-7910475) copy number loss Pathogenic 625683 X:6497085-7910475
14 STS NM_000351.6(STS):c.287G>A (p.Trp96Ter) SNV Pathogenic 625856 rs1463414987 X:7175519-7175519 X:7257478-7257478
15 STS NM_001320752.2(STS):c.1082-18T>C SNV Uncertain significance 931008 X:7243362-7243362 X:7325321-7325321
16 STS NM_000351.6(STS):c.1126A>G (p.Ile376Val) SNV Uncertain significance 638373 rs748174656 X:7243409-7243409 X:7325368-7325368

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, X-Linked:

73
# Symbol AA change Variation ID SNP ID
1 STS p.Ser341Leu VAR_007240 rs137853167
2 STS p.Trp372Arg VAR_007241 rs137853165
3 STS p.Cys446Tyr VAR_007242 rs137853166
4 STS p.Trp372Ser VAR_014020 rs137853168
5 STS p.Gly380Arg VAR_014021
6 STS p.His444Arg VAR_014022 rs137853169
7 STS p.Gln560Pro VAR_014023

Copy number variations for Ichthyosis, X-Linked from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264076 X 6000000 9500000 Copy number Steroid sulfatase deficiency
2 266763 Y 1 9500000 Microdeletion Steroid sulfatase deficiency

Expression for Ichthyosis, X-Linked

Search GEO for disease gene expression data for Ichthyosis, X-Linked.

Pathways for Ichthyosis, X-Linked

Pathways related to Ichthyosis, X-Linked according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Ichthyosis, X-Linked

Biological processes related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 STS PNPLA4 PNPLA1 ALOXE3 ALOX12B
2 brain development GO:0007420 9.67 VCX3B VCX3A VCX2 VCX
3 arachidonic acid metabolic process GO:0019369 9.51 ALOXE3 ALOX12B
4 peptide cross-linking GO:0018149 9.49 TGM1 FLG
5 triglyceride catabolic process GO:0019433 9.48 PNPLA4 PNPLA1
6 linoleic acid metabolic process GO:0043651 9.46 ALOXE3 ALOX12B
7 lipid homeostasis GO:0055088 9.43 PNPLA4 PNPLA1 ABCA12
8 lipoxygenase pathway GO:0019372 9.4 ALOXE3 ALOX12B
9 ceramide biosynthetic process GO:0046513 9.33 PNPLA1 ALOXE3 ALOX12B
10 hepoxilin biosynthetic process GO:0051122 9.32 ALOXE3 ALOX12B
11 keratinocyte differentiation GO:0030216 9.26 TGM1 PNPLA1 FLG ABCA12
12 establishment of skin barrier GO:0061436 9.02 PNPLA1 FLG ALOXE3 ALOX12B ABCA12

Molecular functions related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 triglyceride lipase activity GO:0004806 9.32 PNPLA4 PNPLA1
2 sulfuric ester hydrolase activity GO:0008484 9.26 STS ARSH
3 structural constituent of epidermis GO:0030280 9.16 PNPLA1 FLG
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 arylsulfatase activity GO:0004065 8.62 STS ARSH

Sources for Ichthyosis, X-Linked

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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