IXL
MCID: ICH054
MIFTS: 46

Ichthyosis, X-Linked (IXL) malady

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

Aliases & Classifications for Ichthyosis, X-Linked

Aliases & Descriptions for Ichthyosis, X-Linked:

Name: Ichthyosis, X-Linked 54 24 66 13 42 69
X-Linked Ichthyosis 38 12 50 56 14
Placental Steroid Sulfatase Deficiency 50 24 66 69
Steroid Sulfatase Deficiency 50 24 56 66
Steroid Sulfatase Deficiency Disease 50 69
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency 12
X-Linked Placental Steryl-Sulphatase Deficiency 12
Syndromic Recessive X-Linked Ichthyosis 56
X-Linked Recessive Ichthyosis 12
Recessive X-Linked Ichthyosis 56
Syndromic X-Linked Ichthyosis 56
X Linked Ichthyosis 50
Ichthyosis X-Linked 52
Syndromic Rxli 56
Ssdd 50
Rxli 56
Ssd 50
Xli 56
Ixl 66

Characteristics:

Orphanet epidemiological data:

56
recessive x-linked ichthyosis
Inheritance: X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;
syndromic x-linked ichthyosis
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

HPO:

32
ichthyosis, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 308100
Disease Ontology 12 DOID:1700
ICD10 33 Q80.1
MeSH 42 D016114
NCIt 47 C84779
MESH via Orphanet 43 D016114
UMLS via Orphanet 70 C0079588 C2717836
ICD10 via Orphanet 34 Q80.1
UMLS 69 C0079588

Summaries for Ichthyosis, X-Linked

NIH Rare Diseases : 50 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. last updated: 3/15/2016

MalaCards based summary : Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to chondrodysplasia punctata with steroid sulfatase deficiency and doughnut lesions of skull, familial, and has symptoms including seizures, dry skin and intellectual disability. An important gene associated with Ichthyosis, X-Linked is STS (Steroid Sulfatase), and among its related pathways/superpathways are Keratinization and Sphingolipid metabolism. The drugs Paclitaxel and Selegiline have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotype is Increased viability.

OMIM : 54 Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris... (308100) more...

UniProtKB/Swiss-Prot : 66 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 : 71 X-linked ichthyosis (XLI) (also known as \"Steroid sulfatase deficiency,\" and \"X-linked recessive... more...

Related Diseases for Ichthyosis, X-Linked

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata with steroid sulfatase deficiency 12.1
2 doughnut lesions of skull, familial 10.2 ARSH STS
3 ichthyosis 10.2
4 dyschromatosis universalis hereditaria 10.2 ARSH STS
5 amyotrophic lateral sclerosis 19 10.1 FLG TGM1
6 episodic angioedema with eosinophilia 10.1 FLG KRT10
7 brachydactyly small stature face anomalies 10.1 FLG KRT10
8 atelosteogenesis ii 10.1 FLG TGM1
9 thymus mucoepidermoid carcinoma 10.1 FLG KRT10
10 familial acute necrotizing encephalopathy 10.1 FLG KRT10
11 muscle disorders 10.1 ARSH SUMF1
12 neuronopathy, distal hereditary motor, type iic 10.1 ARSH SUMF1
13 ectodermal dysplasia, hypohidrotic, with immune deficiency 10.1 ARSH SUMF1
14 pachyonychia congenita 2 10.1 FLG KRT10
15 malignant spindle cell melanoma 10.1 FLG KRT10
16 ichthyosis histrix, curth-macklin type 10.1 FLG KRT10
17 dermatitis, atopic 2 10.0 FLG STS TGM1
18 cole-carpenter syndrome 1 10.0 FLG KRT10
19 mitochondrial dna depletion syndrome 1 10.0 ARSH SUMF1
20 intraocular retinoblastoma 10.0 FLG KRT10
21 mast-cell leukemia 10.0 FLG KRT10
22 obesity 10.0 ARSH STS SUMF1
23 vascular dementia 10.0 FLG KRT10
24 solitary bone cyst 10.0 FLG KRT10 TGM1
25 breast leiomyoma 9.9 FLG KRT10
26 insulinoma 9.8 FLG KRT10 STS TGM1
27 preauricular tag, isolated, autosomal dominant, 1 9.8 FLG KRT10 STS TGM1
28 autosomal dominant nocturnal frontal lobe epilepsy 9.8 FLG KRT10 STS TGM1
29 richter's syndrome 9.8 FLG KRT10 STS TGM1
30 steroid inherited metabolic disorder 9.8 FLG KRT10 STS TGM1
31 secondary progressive multiple sclerosis 9.8 NLGN4X VCX2 VCX3A
32 pancreatic cancer 9.8
33 pancreatitis 9.8
34 ichthyosis vulgaris 9.8
35 chondrodysplasia punctata, x-linked recessive 8.8 ARSH FLG KRT10 NLGN4X STS SUMF1

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



Diseases related to Ichthyosis, X-Linked

Symptoms & Phenotypes for Ichthyosis, X-Linked

Symptoms by clinical synopsis from OMIM:

308100

Clinical features from OMIM:

308100

Human phenotypes related to Ichthyosis, X-Linked:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 dry skin 56 32 Very frequent (99-80%) HP:0000958
3 intellectual disability 56 32 Frequent (79-30%) HP:0001249
4 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
5 dysphasia 56 32 Frequent (79-30%) HP:0002357
6 global developmental delay 56 32 Frequent (79-30%) HP:0001263
7 corneal opacity 56 32 Frequent (79-30%) HP:0007957
8 short stature 56 32 Occasional (29-5%) HP:0004322
9 ichthyosis 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008064
10 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
11 hyperkeratosis 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000962
12 opacification of the corneal stroma 56 32 Frequent (79-30%) HP:0007759
13 cryptorchidism 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000028
14 autism 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000717
15 hypohidrosis 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000966
16 attention deficit hyperactivity disorder 56 32 Frequent (79-30%),Frequent (79-30%) HP:0007018
17 hypogonadism 56 32 Occasional (29-5%) HP:0000135
18 acute leukemia 56 32 Occasional (29-5%) HP:0002488
19 lissencephaly 56 32 Occasional (29-5%) HP:0001339
20 unilateral renal agenesis 56 32 Occasional (29-5%) HP:0000122
21 abnormality of the stomach 56 32 Occasional (29-5%) HP:0002577
22 testicular seminoma 56 32 Occasional (29-5%) HP:0100617
23 abdominal wall defect 56 32 Occasional (29-5%) HP:0010866
24 abnormality of metabolism/homeostasis 32 HP:0001939
25 neoplasm 32 HP:0002664
26 congenital ichthyosiform erythroderma 32 HP:0007431
27 abnormality of the abdominal wall 56 Occasional (29-5%)

GenomeRNAi Phenotypes related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.17 FLG KRT10 NLGN4X STS SUMF1 VCX2

Drugs & Therapeutics for Ichthyosis, X-Linked

Drugs for Ichthyosis, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 236)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2 33069-62-4 36314
2
Selegiline Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 14611-51-9 26757 5195
3
Lorazepam Approved Phase 4 846-49-1 3958
4
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
5
Sodium Tetradecyl Sulfate Approved Phase 4 1191-50-0, 139-88-8 14492 5248
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Petrolatum Approved Phase 4,Phase 2 8009-03-8
10
decanoic acid Experimental Phase 4 334-48-5 2969
11 Antineoplastic Agents, Phytogenic Phase 4,Phase 2,Phase 3,Phase 1
12 Analgesics Phase 4,Phase 2,Phase 3
13 Calcium, Dietary Phase 4,Phase 2,Phase 3
14 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
15 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
16 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
17 Albumin-Bound Paclitaxel Phase 4,Phase 3,Phase 2
18 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Antiparkinson Agents Phase 4,Phase 2
20 Neuroprotective Agents Phase 4,Phase 2
21 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Dipeptidyl-Peptidase IV Inhibitors Phase 4
23 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
24 Hormone Antagonists Phase 4,Phase 3,Phase 2
25 Hormones Phase 4,Phase 3,Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
27 Hypoglycemic Agents Phase 4
28 Incretins Phase 4
29
protease inhibitors Phase 4,Phase 3,Phase 2
30 Sitagliptin Phosphate Phase 4
31 Hemostatics Phase 4
32 Carbon fiber Phase 4
33 Anti-Anxiety Agents Phase 4,Phase 3,Phase 1
34 Anticonvulsants Phase 4,Phase 3
35 Antiemetics Phase 4,Phase 3,Phase 2
36 Autonomic Agents Phase 4,Phase 3,Phase 2
37 calcium channel blockers Phase 4,Phase 3
38 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
39 GABA Agents Phase 4,Phase 1
40 GABA Modulators Phase 4,Phase 1
41 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
42 Hypnotics and Sedatives Phase 4,Phase 1
43 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
45 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Anesthetics Phase 4
47 Antifungal Agents Phase 4,Phase 1,Phase 2
48 Adrenergic Agents Phase 4,Phase 2
49 Adrenergic Agonists Phase 4
50 Adrenergic alpha-Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 212)
id Name Status NCT ID Phase
1 Abrogation of Mitral Regurgitation Using the MitraClip System in High-Risk Patients Unsuitable for Surgery Unknown status NCT01431222 Phase 4
2 A Trial Comparing a Paclitaxel Eluting Stent With Biodegradable Polymer Versus a Bare Metal Stent Completed NCT00825279 Phase 4
3 PK Comparison of 6mg and 12mg EMSAM in Elderly vs. Non-Elderly Completed NCT00532116 Phase 4
4 Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes Completed NCT00978796 Phase 4
5 AngioSeal Versus Radial Approach in Acute Coronary Syndrome Completed NCT01653587 Phase 4
6 Mobility Training Using a Bionic Knee Orthosis in Patients Chronic Post-Stroke: A Case Series Completed NCT01499862 Phase 4
7 Safety and Efficacy Evaluation Of Pregabalin (Lyrica) With Patients With Generalized Anxiety Disorder Completed NCT00624780 Phase 4
8 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
9 Laser Ablation Versus Mechanochemical Ablation Trial Recruiting NCT02627846 Phase 4
10 The PARTNER TRIAL - Post Approval Study Part II Active, not recruiting NCT02184442 Phase 4
11 Early Intervention With Lipid-Rich Barrier Cream in Infants at High Risk of Atopy Not yet recruiting NCT03089476 Phase 4
12 A Pilot Study Assessing EmSam in Bipolar Depression Terminated NCT00535262 Phase 4
13 RCT Comparing Standard Cannula Delivered FS, UGFS and ClariVein® in the Management of SVI Withdrawn NCT02010437 Phase 4
14 Star-Close Versus Angio-Seal for Femoral Artery Hemostasis Withdrawn NCT00590356 Phase 4
15 Efficacy and Safety Study of Sodium Tanshinone IIA Sulfonate on Pulmonary Hypertension Unknown status NCT01637675 Phase 2, Phase 3
16 Placebo-Controlled Onset-of-Action Study of Flurbiprofen Utilizing the Double-Stopwatch Method Unknown status NCT01986361 Phase 3
17 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3
18 Study of Palifosfamide-tris in Combination With Doxorubicin in Patients With Front-line Metastatic Soft Tissue Sarcoma Completed NCT01168791 Phase 3
19 High Frequency Repetitive Transcranial Magnetic Stimulation (rTMS) in Schizophrenia : a Randomized Controlled Study Completed NCT01022489 Phase 2, Phase 3
20 Safety, Tolerability and Efficacy of the Transdermal System in Elderly Subjects With Major Depression Completed NCT00285766 Phase 3
21 Phase 3 Study to Treat Patients With Soft Tissue Sarcomas Completed NCT02049905 Phase 3
22 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3
23 A Study For Pregabalin In Patients With Fibromyalgia Completed NCT01387607 Phase 3
24 An Open-Label Long-Term Study Of Pregabalin For The Treatment Of Central Neuropathic Pain Completed NCT01202227 Phase 3
25 Pazopanib Versus Placebo in Patients With Soft Tissue Sarcoma Whose Disease Has Progressed During or Following Prior Therapy Completed NCT00753688 Phase 3
26 Localized High-Risk Soft Tissue Sarcomas Of The Extremities And Trunk Wall In Adults: An Integrating Approach Comprising Standard Vs Histotype-Tailored Neoadjuvant Chemotherapy Recruiting NCT01710176 Phase 3
27 Preoperative vs Postoperative IMRT for Extremity/Truncal STS Recruiting NCT02565498 Phase 3
28 Role of Barrier Resection in Local Control for Extremity Recurrent Soft Tissue Sarcomas Recruiting NCT02120768 Phase 3
29 Trial Comparing Trabectedin to the Best Supportive Care in Patients With Sarcoma Recruiting NCT02672527 Phase 3
30 NBTXR3 Crystalline Nanoparticles and Radiation Therapy in Treating and Randomized Patients in Two Arms With Soft Tissue Sarcoma of the Extremity and Trunk Wall Recruiting NCT02379845 Phase 2, Phase 3
31 Long Term, Extension Study of the Safety and Efficacy of AVP-786 for the Treatment of Agitation in Patients With Dementia of the Alzheimer's Type Recruiting NCT02446132 Phase 3
32 A Study Of PF-05280586 (Rituximab-Pfizer) Or MabThera® (Rituximab-EU) For The First-Line Treatment Of Patients With CD20-Positive, Low Tumor Burden, Follicular Lymphoma (REFLECTIONS B328-06) Recruiting NCT02213263 Phase 3
33 PALbociclib CoLlaborative Adjuvant Study: A Randomized Phase III Trial of Palbociclib With Standard Adjuvant Endocrine Therapy Versus Standard Adjuvant Endocrine Therapy Alone for Hormone Receptor Positive (HR+) / Human Epidermal Growth Factor Receptor 2 Recruiting NCT02513394 Phase 3
34 Study of Anlotinib in Patients With Soft Tissue Sarcoma(STS)(ALTER0203) Active, not recruiting NCT02449343 Phase 2, Phase 3
35 A Study of Doxorubicin Plus Olaratumab (LY3012207) in Participants With Advanced or Metastatic Soft Tissue Sarcoma Active, not recruiting NCT02451943 Phase 3
36 Study Evaluating The Effects Of Neratinib After Adjuvant Trastuzumab In Women With Early Stage Breast Cancer Active, not recruiting NCT00878709 Phase 3
37 Randomized, Double-Blind, Multicenter, Study Comparing Veliparib Plus Carboplatin and Paclitaxel Versus Placebo Plus Carboplatin and Paclitaxel in Previously Untreated Advanced or Metastatic Squamous Non-Small Cell Lung Cancer Active, not recruiting NCT02106546 Phase 3
38 Trabectedin Maintenance Post 1st-line in STS Not yet recruiting NCT02929394 Phase 3
39 BioVentrix Revivent TC™ System Clinical Study Not yet recruiting NCT02931240 Phase 2, Phase 3
40 A Study to Provide Access to Trabectedin in Participants With Locally Advanced or Metastatic Soft Tissue Sarcoma Who Have Persistent or Recurrent Disease and Who Are Not Expected to Benefit From Currently Available Standard of Care Treatment No longer available NCT00210665 Phase 3
41 Near Infrared Spectroscopy (NIRS) in Severe Sepsis Terminated NCT00167596 Phase 2, Phase 3
42 Randomized Double Blind Placebo Controlled Trial of Sodium Thiosulfate for the Treatment of Pain Associated With Calcific Uremic Arteriolopath Terminated NCT02527213 Phase 3
43 Pregabalin Trial In HIV Neuropathic Pain Terminated NCT01145417 Phase 3
44 Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy Terminated NCT01049217 Phase 3
45 12-Week Efficacy And Safety Of Pregabalin In Treating Restless Legs Syndrome (RLS) Subjects Withdrawn NCT01061372 Phase 3
46 Trofosfamide Versus Adriamycin in Elderly Patients With Soft Tissue Sarcoma (STS) Unknown status NCT00204568 Phase 2
47 Deep rTMS (Repetitive Transcranial Magnetic Stimulation)for Treatment of Autism Symptoms in Children. Unknown status NCT01388179 Phase 2
48 Phase I-II Trial of Sorafenib in Combination With Ifosfamide in Soft Tissue Sarcoma Unknown status NCT00541840 Phase 1, Phase 2
49 A Study of Palifosfamide Tris Plus Doxorubicin Versus Doxorubicin in Unresectable or Metastatic Soft-tissue Sarcoma Unknown status NCT00718484 Phase 2
50 Preliminary Efficacy and Safety of INNO-206 Compared to Doxorubicin in Advanced Soft Tissue Sarcoma Unknown status NCT01514188 Phase 2

Search NIH Clinical Center for Ichthyosis, X-Linked

Cochrane evidence based reviews: ichthyosis, x-linked

Genetic Tests for Ichthyosis, X-Linked

Genetic tests related to Ichthyosis, X-Linked:

id Genetic test Affiliating Genes
1 Ichthyosis, X-Linked 24 STS

Anatomical Context for Ichthyosis, X-Linked

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

39
Skin, Eye

Publications for Ichthyosis, X-Linked

Variations for Ichthyosis, X-Linked

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

66
id 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

ClinVar genetic disease variations for Ichthyosis, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STS NM_000351.5(STS): c.1114T> A (p.Trp372Arg) single nucleotide variant Pathogenic rs137853165 GRCh37 Chromosome X, 7243397: 7243397
2 STS NM_000351.5(STS): c.1337G> A (p.Cys446Tyr) single nucleotide variant Pathogenic rs137853166 GRCh37 Chromosome X, 7252107: 7252107
3 STS NM_000351.5(STS): c.1022C> T (p.Ser341Leu) single nucleotide variant Pathogenic rs137853167 GRCh37 Chromosome X, 7223150: 7223150
4 STS NM_000351.5(STS): c.1115G> C (p.Trp372Ser) single nucleotide variant Pathogenic rs137853168 GRCh37 Chromosome X, 7243398: 7243398
5 STS NM_000351.5(STS): c.1331A> G (p.His444Arg) single nucleotide variant Pathogenic rs137853169 GRCh37 Chromosome X, 7252101: 7252101
6 STS STS, IVS8DS, G-T, +1 single nucleotide variant Pathogenic
7 STS NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 6499768: 8193324
8 STS NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 6500268: 7762747
9 STS NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 6560264: 8193324
10 STS NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 6674278: 7922037

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

7
id CNVD ID Chromosom 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

GO Terms for Ichthyosis, X-Linked

Cellular components related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.13 ARSH STS SUMF1
2 cornified envelope GO:0001533 8.8 FLG KRT10 TGM1

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

id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.54 ARSH STS SUMF1
2 cornification GO:0070268 9.5 FLG KRT10 TGM1
3 keratinocyte differentiation GO:0030216 9.33 FLG KRT10 TGM1
4 skin epidermis development GO:0098773 9.26 FLG KRT10
5 peptide cross-linking GO:0018149 9.13 FLG KRT10 TGM1
6 glycosphingolipid metabolic process GO:0006687 8.8 ARSH STS SUMF1

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

id Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.96 ARSH STS
2 structural constituent of epidermis GO:0030280 8.62 FLG KRT10

Sources for Ichthyosis, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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