MCID: ICH054
MIFTS: 59

Ichthyosis, X-Linked

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

Aliases & Classifications for Ichthyosis, X-Linked

MalaCards integrated aliases for Ichthyosis, X-Linked:

Name: Ichthyosis, X-Linked 53 71 13 41 69
X-Linked Ichthyosis 37 12 72 49 55 36 14
Placental Steroid Sulfatase Deficiency 53 49 71 69
Steroid Sulfatase Deficiency 53 49 55 71
Steroid Sulfatase Deficiency Disease 53 49 69
Ssdd 53 49
Xli 53 55
Recessive X-Linked Ichthyosis with Extracutaneous Manifestations 55
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency 12
X-Linked Placental Steryl-Sulphatase Deficiency 12
Steroid Sulfatase Deficiency Disease; Ssdd 53
X-Linked Recessive Ichthyosis 12
Recessive X-Linked Ichthyosis 55
Syndromic X-Linked Ichthyosis 55
X Linked Ichthyosis 49
Ichthyosis X-Linked 51
Sts Deficiency 53
Syndromic Rxli 55
Rxli 55
Ssd 49
Ixl 71

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
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:



Summaries for Ichthyosis, X-Linked

OMIM : 53 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)

MalaCards based summary : Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to ichthyosis and ichthyosis, x-linked, without steroid sulfatase deficiency, 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 Steroid hormone biosynthesis and Keratinization. The drugs Paclitaxel and Selegiline have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, and related phenotype is Increased viability.

NIH Rare Diseases : 49 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

UniProtKB/Swiss-Prot : 71 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 : 72 X-linked ichthyosis (XLI) (also known as \") is a skin condition caused by the hereditary deficiency of... more...

Related Diseases for Ichthyosis, X-Linked

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 via clinical synopsis from OMIM:

53
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

Human phenotypes related to Ichthyosis, X-Linked:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
3 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
4 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
5 dysphasia 55 31 frequent (33%) Frequent (79-30%) HP:0002357
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
8 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
9 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
10 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
11 hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000962
12 opacification of the corneal stroma 55 31 frequent (33%) Frequent (79-30%) HP:0007759
13 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000028
14 autism 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000717
15 hypohidrosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000966
16 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007018
17 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
18 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
19 lissencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001339
20 unilateral renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000122
21 abnormality of the stomach 55 31 occasional (7.5%) Occasional (29-5%) HP:0002577
22 testicular seminoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0100617
23 abdominal wall defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0010866
24 abnormality of metabolism/homeostasis 31 HP:0001939
25 neoplasm 31 HP:0002664
26 congenital ichthyosiform erythroderma 31 HP:0007431
27 abnormality of the abdominal wall 55 Occasional (29-5%)

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

25
# 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 249)
# 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 5195 26757
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, Investigational Phase 4,Phase 2 139-88-8, 1191-50-0 5248 14492
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8 Racepinephrine Approved Phase 4 329-65-7
9 Antineoplastic Agents, Phytogenic Phase 4,Phase 2,Phase 3,Phase 1
10 Analgesics Phase 4,Phase 2,Phase 3
11 Calcium, Dietary Phase 4,Phase 2,Phase 3
12 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
15 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
16 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
18 Albumin-Bound Paclitaxel Phase 4,Phase 3,Phase 2
19 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antiparkinson Agents Phase 4,Phase 3,Phase 2
21 Monoamine Oxidase Inhibitors Phase 4,Phase 3,Phase 2
22 Neuroprotective Agents Phase 4,Phase 3,Phase 2
23 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Dipeptidyl-Peptidase IV Inhibitors Phase 4
25 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
26 Hormone Antagonists Phase 4,Phase 3,Phase 2
27 Hormones Phase 4,Phase 3,Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
29 Hypoglycemic Agents Phase 4
30 Incretins Phase 4
31
protease inhibitors Phase 4,Phase 3,Phase 2
32 Sitagliptin Phosphate Phase 4
33 Hemostatics Phase 4
34 Carbon fiber Phase 4
35 Anti-Anxiety Agents Phase 4,Phase 3,Phase 1
36 Anticonvulsants Phase 4,Phase 3
37 Antiemetics Phase 4,Phase 3,Phase 2
38 Autonomic Agents Phase 4,Phase 3,Phase 2
39 calcium channel blockers Phase 4,Phase 3
40 GABA Agents Phase 4,Phase 1
41 GABA Modulators Phase 4,Phase 1
42 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
43 Hypnotics and Sedatives Phase 4,Phase 1
44 Anesthetics Phase 4
45 Adrenocorticotropic Hormone Phase 4
46 beta-endorphin Phase 4
47 Melanocyte-Stimulating Hormones Phase 4
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 242)

# Name Status NCT ID Phase Drugs
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 EMSAM (Selegiline Transdermal System) 6mg;EMSAM (Selegiline Transdermal System) 12mg
4 Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes Completed NCT00978796 Phase 4 Sitagliptin;Sugar Pill
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 Pregabalin;Lorazepam;Pregabalin;Placebo
8 Pilot Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Pulmonary Sarcoidosis Recruiting NCT03320070 Phase 4 repository corticotropin injection;Placebo
9 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
10 Laser Ablation Versus Mechanochemical Ablation Trial Recruiting NCT02627846 Phase 4 Lidocaine with 1:200,000 epinephrine solution;Lidocaine with 1:200,000 epinephrine solution;Sodium Bicarbonate;Sodium Tetradecyl Sulphate
11 The PARTNER TRIAL - Post Approval Study Part II Active, not recruiting NCT02184442 Phase 4
12 A Pilot Study Assessing EmSam in Bipolar Depression Terminated NCT00535262 Phase 4 EmSam
13 RCT Comparing Standard Cannula Delivered FS, UGFS and ClariVein® in the Management of SVI Withdrawn NCT02010437 Phase 4 Sodium Tetradecyl Sulphate (STS)
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 20 mg sildenafil citrate by mouth;sodium tanshinone IIA sulfonate diluted with 5% glucose solution,20mg sildenafil citrate by mouth
16 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
17 Study of Palifosfamide-tris in Combination With Doxorubicin in Patients With Front-line Metastatic Soft Tissue Sarcoma Completed NCT01168791 Phase 3 doxorubicin in combination with palifosfamide-tris;doxorubicin in combination with placebo
18 High Frequency Repetitive Transcranial Magnetic Stimulation (rTMS) in Schizophrenia : a Randomized Controlled Study Completed NCT01022489 Phase 2, Phase 3
19 Safety, Tolerability and Efficacy of the Transdermal System in Elderly Subjects With Major Depression Completed NCT00285766 Phase 3 Selegiline Transdermal System
20 Phase 3 Study to Treat Patients With Soft Tissue Sarcomas Completed NCT02049905 Phase 3 Aldoxorubicin;Investigator's Choice Treatment (Darcabazine, Pazopanib, Gemcitabine + Docetaxel, Doxorubicin, Ifosfamide)
21 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 sodium thiosulfate
22 A Study For Pregabalin In Patients With Fibromyalgia Completed NCT01387607 Phase 3 pregabalin;placebo
23 Placebo-Controlled Onset-of-Action Study of Flurbiprofen Utilizing the Double-Stopwatch Method Completed NCT01986361 Phase 3 flurbiprofen;placebo
24 An Open-Label Long-Term Study Of Pregabalin For The Treatment Of Central Neuropathic Pain Completed NCT01202227 Phase 3 pregabalin
25 Pazopanib Versus Placebo in Patients With Soft Tissue Sarcoma Whose Disease Has Progressed During or Following Prior Therapy Completed NCT00753688 Phase 3 PAZOPANIB;Placebo
26 Trabectedin Maintenance Post 1st-line in STS Recruiting NCT02929394 Phase 3 Trabectedin
27 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 epirubicin 60 mg/m2/day (days 1, 2) and ifosfamide 3 g/m2/day (days 1, 2, 3);gemcitabine 900 mg/m2 (days 1 and 8) and docetaxel 75 mg/m2 (day 8);trabectedin 1.3 mg/m2;high-dose ifosfamide 14 g/m2, given in in 14 days;etoposide 150 mg/m2/day (days 1, 2, 3) and ifosfamide 3g/m2/day (days 1, 2, 3);gemcitabine 1800 mg/m2 (day 1) and dacarbazine 500 mg/m2 (day 1)
28 Preoperative vs Postoperative IMRT for Extremity/Truncal STS Recruiting NCT02565498 Phase 3
29 Role of Barrier Resection in Local Control for Extremity Recurrent Soft Tissue Sarcomas Recruiting NCT02120768 Phase 3
30 Trial Comparing Trabectedin to the Best Supportive Care in Patients With Sarcoma Recruiting NCT02672527 Phase 3 Trabectedin;Dexamethasone
31 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
32 BioVentrix Revivent TC™ System Clinical Study Recruiting NCT02931240 Phase 2, Phase 3
33 STeroids to REduce Systemic Inflammation After Neonatal Heart Surgery Recruiting NCT03229538 Phase 3 Methylprednisolone;Isotonic saline
34 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 AVP-786
35 A Study of Oral Ixazomib Maintenance Therapy in Patients With Newly Diagnosed Multiple Myeloma Not Treated With Stem Cell Transplantation Recruiting NCT02312258 Phase 3 Ixazomib;Placebo
36 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 Palbociclib;Standard Adjuvant Endocrine Therapy
37 Study of Anlotinib in Patients With Soft Tissue Sarcoma(STS)(ALTER0203) Active, not recruiting NCT02449343 Phase 2, Phase 3 Anlotinib;Placebo
38 A Study of Doxorubicin Plus Olaratumab (LY3012207) in Participants With Advanced or Metastatic Soft Tissue Sarcoma Active, not recruiting NCT02451943 Phase 3 Olaratumab;Doxorubicin;Placebo
39 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) Active, not recruiting NCT02213263 Phase 3
40 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 carboplatin;veliparib;paclitaxel;placebo
41 Study Evaluating The Effects Of Neratinib After Adjuvant Trastuzumab In Women With Early Stage Breast Cancer Active, not recruiting NCT00878709 Phase 3 neratinib
42 Near Infrared Spectroscopy (NIRS) in Severe Sepsis Terminated NCT00167596 Phase 2, Phase 3
43 Randomized Double Blind Placebo Controlled Trial of Sodium Thiosulfate for the Treatment of Pain Associated With Calcific Uremic Arteriolopath Terminated NCT02527213 Phase 3 Sodium thiosulfate;Placebo
44 Pregabalin Trial In HIV Neuropathic Pain Terminated NCT01145417 Phase 3 pregabalin (Lyrica)
45 Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy Terminated NCT01049217 Phase 3 pregabalin;placebo
46 12-Week Efficacy And Safety Of Pregabalin In Treating Restless Legs Syndrome (RLS) Subjects Withdrawn NCT01061372 Phase 3 Placebo;pregabalin;pregabalin
47 Phase II Study of NGR-hTNF in Combination With Doxorubicin in Patients Affected by Soft Tissue Sarcomas. Unknown status NCT00484341 Phase 2 NGR-hTNF;NGR-hTNF;Doxorubicin
48 Trofosfamide Versus Adriamycin in Elderly Patients With Soft Tissue Sarcoma (STS) Unknown status NCT00204568 Phase 2 Adriamycin;Trofosfamide
49 Phase I-II Trial of Sorafenib in Combination With Ifosfamide in Soft Tissue Sarcoma Unknown status NCT00541840 Phase 1, Phase 2 Sorafenib
50 Activity and Tolerability of Pazopanib in Advanced and/or Metastatic Liposarcoma. A Phase II Clinical Trial Unknown status NCT01692496 Phase 2 Pazopanib

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:

38
Skin, Breast, Lung, Testes, Brain, Kidney, Heart

Publications for Ichthyosis, X-Linked

Articles related to Ichthyosis, X-Linked:

(show top 50) (show all 195)
# Title Authors Year
1
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report. ( 28934990 )
2017
2
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. ( 28884032 )
2017
3
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. ( 28302098 )
2017
4
Ichthyosis, X-Linked ( 28846233 )
2017
5
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization. ( 27478344 )
2016
6
A Case of Syndromic X-linked Ichthyosis with LAcri-Weill Dyschondrosteosis. ( 26832328 )
2016
7
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT. ( 27192889 )
2016
8
Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family. ( 25597551 )
2015
9
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis. ( 26481779 )
2015
10
X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene. ( 26421812 )
2015
11
X-linked Ichthyosis Presenting as Erythroderma: A Rare Case. ( 26538699 )
2015
12
The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. ( 25659225 )
2015
13
X-linked ichthyosis: Differential diagnosis of low maternal oestriol level. ( 24960317 )
2014
14
X-linked ichthyosis. ( 25129014 )
2014
15
Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient. ( 24480088 )
2014
16
Detection of the deletion of the STS gene and flanking sequences using polymerase chain reaction in a Chinese pedigree: the first case report of X-linked ichthyosis associated with testicular microlithiasis. ( 24126298 )
2013
17
Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis. ( 24291327 )
2013
18
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. ( 23807007 )
2013
19
Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis. ( 23939749 )
2013
20
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation. ( 23791652 )
2013
21
X-linked ichthyosis along with epidermolysis bullosa. ( 22629078 )
2012
22
Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations. ( 21945601 )
2011
23
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. ( 20236202 )
2010
24
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. ( 20523032 )
2010
25
HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. ( 20722631 )
2010
26
The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis. ( 20941942 )
2010
27
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis. ( 20149601 )
2010
28
Burn injury and wound healing in X-linked ichthyosis. ( 20523225 )
2010
29
X-linked ichthyosis: an oculocutaneous genodermatosis. ( 20080321 )
2010
30
Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis. ( 19556107 )
2009
31
Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. ( 19200188 )
2009
32
Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis. ( 18412879 )
2008
33
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. ( 18076704 )
2008
34
Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome. ( 18205863 )
2008
35
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. ( 18413370 )
2008
36
Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. ( 17113756 )
2007
37
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. ( 17657246 )
2007
38
Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. ( 17468528 )
2007
39
Unilateral accentuation of X-linked ichthyosis following thoracotomy for lung cancer. ( 17033183 )
2006
40
Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene. ( 16191859 )
2005
41
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. ( 15733277 )
2005
42
STS gene in a pedigree with X-linked ichthyosis. ( 16196306 )
2005
43
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. ( 15888481 )
2005
44
Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase. ( 15607112 )
2004
45
Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. ( 12920363 )
2003
46
Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis. ( 14641695 )
2003
47
A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis. ( 12657025 )
2003
48
End-stage renal failure in a child with X-linked ichthyosis. ( 12644929 )
2003
49
Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence? ( 12558636 )
2003
50
X-linked ichthyosis in southern Italy. ( 14576695 )
2003

Variations for Ichthyosis, X-Linked

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

71
# 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
# 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:

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# 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

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

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# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Ichthyosis, X-Linked

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.5 ARSH STS SUMF1
2 cornification GO:0070268 9.43 FLG KRT10 TGM1
3 keratinocyte differentiation GO:0030216 9.33 FLG KRT10 TGM1
4 peptide cross-linking GO:0018149 9.13 FLG KRT10 TGM1
5 glycosphingolipid metabolic process GO:0006687 8.8 ARSH STS SUMF1

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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