MCID: TRC078
MIFTS: 34

Trichohepatoenteric Syndrome 2

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Bone diseases, Blood diseases

Aliases & Classifications for Trichohepatoenteric Syndrome 2

MalaCards integrated aliases for Trichohepatoenteric Syndrome 2:

Name: Trichohepatoenteric Syndrome 2 57 75 29 13 6 73
Thes2 57 75
Syndrome, Trichohepatoenteric, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first few months of life patients may need lifelong total parenteral nutrition


HPO:

32
trichohepatoenteric syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 2

OMIM : 57 Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012). For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (222470). (614602)

MalaCards based summary : Trichohepatoenteric Syndrome 2, is also known as thes2, and has symptoms including thin, sparse hair An important gene associated with Trichohepatoenteric Syndrome 2 is SKIV2L (Ski2 Like RNA Helicase). The drugs Iron and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include lung, prostate and testes, and related phenotypes are hypertelorism and failure to thrive

UniProtKB/Swiss-Prot : 75 Trichohepatoenteric syndrome 2: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients.

Related Diseases for Trichohepatoenteric Syndrome 2

Diseases in the Trichohepatoenteric Syndrome 1 family:

Trichohepatoenteric Syndrome 2

Symptoms & Phenotypes for Trichohepatoenteric Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Abdomen Liver:
hepatomegaly
cirrhosis
hepatitis, chronic, nonspecific
iron deposition (in some patients)

Prenatal Manifestations:
intrauterine growth retardation

Abdomen Gastrointestinal:
villous atrophy
colitis
diarrhea, severe and intractable

Growth Height:
decreased height

Immunology:
immune deficiency

Laboratory Abnormalities:
decreased serum iron (in some patients)

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Face:
prominent forehead
square forehead
prominent cheeks

Skin Nails Hair Hair:
woolly hair
trichorrhexis nodosa
uncombable hair
brittle hair
thin, sparse hair
more
Growth Weight:
low birth weight

Head And Neck Nose:
flat, broad nose

Cardiovascular Heart:
cardiac abnormalities


Clinical features from OMIM:

614602

Human phenotypes related to Trichohepatoenteric Syndrome 2:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 failure to thrive 32 HP:0001508
3 hepatomegaly 32 HP:0002240
4 prominent forehead 32 HP:0011220
5 immunodeficiency 32 HP:0002721
6 hepatitis 32 HP:0012115
7 intrauterine growth retardation 32 HP:0001511
8 cirrhosis 32 HP:0001394
9 diarrhea 32 HP:0002014
10 wide nose 32 HP:0000445
11 woolly hair 32 HP:0002224
12 sparse hair 32 HP:0008070
13 trichorrhexis nodosa 32 HP:0009886
14 pili canaliculi 32 HP:0002235
15 small for gestational age 32 HP:0001518
16 uncombable hair 32 HP:0030056
17 brittle hair 32 HP:0002299
18 villous atrophy 32 HP:0011473
19 colitis 32 HP:0002583
20 decreased serum iron 32 occasional (7.5%) HP:0040303

UMLS symptoms related to Trichohepatoenteric Syndrome 2:


thin, sparse hair

Drugs & Therapeutics for Trichohepatoenteric Syndrome 2

Drugs for Trichohepatoenteric Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1461)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
2
Bimatoprost Approved, Investigational Phase 4,Phase 2,Phase 1 155206-00-1 5311027
3
Ephedrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 299-42-3 9294
4
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 90-82-4 7028
5
Insulin Detemir Approved Phase 4,Phase 3 169148-63-4 5311023
6
Insulin glulisine Approved Phase 4,Phase 3 207748-29-6
7
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7440-66-6 23994
8
Amlodipine Approved Phase 4,Phase 3,Phase 2 88150-42-9 2162
9
Ticagrelor Approved Phase 4,Phase 3,Not Applicable 274693-27-5 9871419
10
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
11
Fenofibrate Approved Phase 4,Phase 2 49562-28-9 3339
12
Pravastatin Approved Phase 4 81093-37-0 54687
13
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 185243-69-0
14
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 50-56-6 439302 53477758
15
Atropine Approved, Vet_approved Phase 4,Phase 3 5908-99-6, 51-55-8 174174
16
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 437-38-7 3345
17
Succinylcholine Approved Phase 4 306-40-1 5314
18
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
19
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
20
Citalopram Approved Phase 4,Phase 2,Not Applicable 59729-33-8 2771
21
Reboxetine Approved, Investigational Phase 4 98769-81-4, 71620-89-8 123628 65856
22
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-78-2 2244
23
Esomeprazole Approved, Investigational Phase 4,Phase 3,Not Applicable 161796-78-7, 119141-88-7 4594 9579578
24
Famotidine Approved Phase 4,Phase 2 76824-35-6 3325
25
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 75614-87-8, 51-45-6 774
26
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
27
Cilostazol Approved, Investigational Phase 4,Phase 3 73963-72-1 2754
28
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1 73590-58-6 4594
29
Aminolevulinic acid Approved Phase 4,Phase 3 106-60-5 137
30
Donepezil Approved Phase 4,Phase 2 120014-06-4 3152
31
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
32
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
33
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1959-05-2, 59-05-2 126941
34
Glipizide Approved, Investigational Phase 4,Phase 2 29094-61-9 3478
35
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 657-24-9 14219 4091
36
Saxagliptin Approved Phase 4,Phase 3,Not Applicable 361442-04-8 11243969
37
Carboplatin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 41575-94-4 10339178 498142 38904
38
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-17-5 702
39
Ethiodized oil Approved, Investigational Phase 4,Not Applicable 8008-53-5
40
Sorafenib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 284461-73-0 216239 406563
41
Everolimus Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 159351-69-6 6442177
42
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
43
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33069-62-4 36314
44
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 53123-88-9 5284616 6436030 46835353
45
Propranolol Approved, Investigational Phase 4,Not Applicable 525-66-6 4946
46
Pantoprazole Approved Phase 4,Phase 1 102625-70-7 4679
47
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
48
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
49
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
50
Adefovir Dipivoxil Approved, Investigational Phase 4,Phase 3,Phase 2 142340-99-6 60871

Interventional clinical trials:

(show top 50) (show all 4029)
# Name Status NCT ID Phase Drugs
1 The Safety, Immunogenicity and Immune Effect Research of the Varicella Vaccine After the 2nd Dose Vaccination Unknown status NCT01830283 Phase 4
2 The Safety and Immunogenicity Research of Live Attenuated Varicella Vaccine After the 2 Doses Vaccination Unknown status NCT01866566 Phase 4
3 Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations. Unknown status NCT00248716 Phase 4 Ferrous gluconate and iron polysaccharide complex
4 Investigation of IOP and Tolerability of Bimatoprost 0.01% and Tafluprost Unit Dose Preservative Free 15 Microgram/ml Unknown status NCT02471105 Phase 4 Preserved Bimatoprost 0.01%;Tafluprost Unit Dose Preservative Free 15microgram/ml
5 Treatment With Continuous Sub-cutaneous Insulin Infusion Via a Portable Pump Versus Discontinuous Insulin Infusion Via Multiple-injections in Type 2 Diabetes Unknown status NCT02048189 Phase 4 LEVEMIR;APIDRA
6 TReatment by Insulin Continuous Infusion in Type 2 DIAbetes Unknown status NCT01889914 Phase 4 2 different procedures of administration of insulin
7 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
8 Paradigm Shift in the Treatment of Patients With ACS Unknown status NCT02041650 Phase 4 Ticagrelor
9 Coadministration of Ezetimibe With Fenofibrate Versus Pravastatin Monotherapy for the Treatment of Hyperlipidaemia in HIV-infected Patients Unknown status NCT00843661 Phase 4 ezetimibe;fenofibrate;pravastatin
10 Prevention of Iron Deficiency in 2nd Year of Life Unknown status NCT00479102 Phase 4 Ferripel-3 - iron polysaccharide complex for prevention
11 Withdrawal of Etanercept After Successful Treatment of Juvenile Idiopathic Arthritis Unknown status NCT01287715 Phase 4 etanercept;etanercept
12 Rapid Onset Action of Salbutamol Versus Formoterol Unknown status NCT00900874 Phase 4 salbutamol;Formoterol
13 The Effect of 21-Days Intranasal Oxytocin on Patients With Post Traumatic Stress Disorder (PTSD) Unknown status NCT02336568 Phase 4 Oxytoine;PLACEBO
14 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
15 The Effect of Biannual Monitoring With Magnetic Resonance Imaging (MRI), X-ray, or Usual Care on Treatment for Inflammatory Arthritis Unknown status NCT00808496 Phase 4
16 A Double-blind, Placebo-controlled Pilot Study to Collect and Evaluate Data on the Use of Intravenous Ibuprofen in the Treatment of an Acute Migraine Attack Unknown status NCT01230411 Phase 4 Ibuprofen
17 Tramadol Extended-Release (ER) for Posttraumatic Stress Disorder (PTSD) Unknown status NCT01517711 Phase 4 Tramadol;Placebo
18 Laser Therapy Combined With Intravitreal Aflibercept vs Intravitreal Aflibercept Monotherapy (LADAMO) Unknown status NCT02432547 Phase 4 Aflibercept
19 Spinal Cord Stimulation (SCS) in Refractory Angina Unknown status NCT00121654 Phase 4
20 Effect of Escitalopram vs. Reboxetine on Gastro-intestinal Sensitivity of Patients With Major Depressive Disorder Unknown status NCT00209807 Phase 4 escitalopram;Reboxetine
21 LDL-C Lowering Efficacy and Safety of Rosuvastatin 20 mg/Day to10 mg/Day in Chinese ACS(Acute Coronary Syndrome) Patients Unknown status NCT02077257 Phase 4 Rosuvastatin
22 Esomeprazole or Famotidine in the Management of Aspirin Related Non-Ulcer Dyspepsia Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
23 A RCT of Oral S-1 in Combination With Sequential HAIC of Oxaliplatin After TACE in Patients With Advanced HCC Unknown status NCT01997957 Phase 4 S-1
24 Study of the Molecular Mechanisms Underlying the Cross-neutralizing Capacity of AS04-adjuvanted HPV Vaccine (Cervarix®) in Comparison With the Aluminiumhydroxyphosphate Sulphate Adjuvanted HPV Vaccine (Gardasil®) Unknown status NCT01914367 Phase 4
25 Sufficient Treatment of Peripheral Intervention by Cilostazol Unknown status NCT00912756 Phase 4 cilostazol
26 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
27 Superficial Basal Cell Carcinoma Treatment With Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
28 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
29 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
30 Prevention of Upper Gastrointestinal Hemorrhage Using Albis® in the Patients of Locally Advanced Pancreatic Cancer Who Underwent Concurrent Chemoradiotherapy Unknown status NCT02570529 Phase 4 Albis®;Placebo
31 Optimizing Psoriasis Treatment of Etanercept Combined Methotrexate Unknown status NCT02313922 Phase 4 etanercept combined with methotrexate or etanercept combined with placebo
32 Outpatient Discharge Therapy With Saxagliptin+MetforminXR vs GlipizideXL for Type 2 Diabetes With Severe Hyperglycemia Unknown status NCT01267448 Phase 4 Glipizide XL;Saxagliptin + Metformin XR;Metformin XR
33 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
34 Transcatheter Arterial Chemoembolization Combined With Sorafenib for Unresectable Hepatocellular Carcinoma Unknown status NCT01833299 Phase 4
35 Effect Of Intravenous Iron Versus Placebo On Muscle Oxidative Capacity And Physical Performance In Non Anemic Premenopausal Women With Low Ferritin Levels Unknown status NCT01374776 Phase 4 Double blind, randomized, placebo controlled inter
36 RIBS V (Restenosis Intra-stent of Bare Metal Stents: Paclitaxel-eluting Balloon vs Everolimus-eluting Stent) Unknown status NCT01239953 Phase 4
37 RIBS IV (Restenosis Intra-stent of Drug-eluting Stents: Paclitaxel-eluting Balloon vs Everolimus-eluting Stent) Unknown status NCT01239940 Phase 4
38 A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol Unknown status NCT01298284 Phase 4 propranolol
39 Pharmacodynamic Comparison of Rosuvastatin Versus Atorvastatin on Platelet Reactivity in Patients With Coronary Artery Disease on Dual Antiplatelet Therapy With New P2Y12 Inhibitors (Trial gRANADa) Unknown status NCT02030054 Phase 4 Atorvastatin;Rosuvastatin
40 "Pharmacodynamic Comparison of Omeprazole Versus Pantoprazole on Platelet Reactivity in Patients With Acute Coronary Syndromes on Dual Antiplatelet Therapy With New P2Y12 Inhibitors" -Trial dOPPLER- Unknown status NCT02028234 Phase 4 Pantoprazole,;Omeprazole
41 PharmacOdynamic compaRison of piTavastatin Versus atOrvastatin on Platelet Reactivity Unknown status NCT01648829 Phase 4 Atorvastatin;Pitavastatin
42 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
43 EFFORT Further Extension Study Unknown status NCT02826070 Phase 4 Telbivudine;Adefovir dipivoxil
44 Methylprednisolone During the Switch Between Natalizumab and Fingolimod Unknown status NCT02769689 Phase 4 Methylprednisolone;Placebo;natalizumab (NTZ);fingolimob (FTY)
45 Ventilator Associated Pneumonia in Taper Guard Versus Normal Tube in ICU Patients Unknown status NCT01501227 Phase 4
46 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
47 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
48 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
49 Amoxicillin Clavulanate in Treatment of Acute Otitis Media Unknown status NCT00299455 Phase 4 amoxicillin-clavulanate;Placebo
50 Kidney Biopsy Controlled Trial of Calcineurin Inhibitor Withdrawal Unknown status NCT00896012 Phase 4 Rapamune (sirolimus/rapamycin);Tacrolimus

Search NIH Clinical Center for Trichohepatoenteric Syndrome 2

Genetic Tests for Trichohepatoenteric Syndrome 2

Genetic tests related to Trichohepatoenteric Syndrome 2:

# Genetic test Affiliating Genes
1 Trichohepatoenteric Syndrome 2 29 SKIV2L

Anatomical Context for Trichohepatoenteric Syndrome 2

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 2:

41
Lung, Prostate, Testes, Bone, Brain, Heart, Liver

Publications for Trichohepatoenteric Syndrome 2

Variations for Trichohepatoenteric Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Trichohepatoenteric Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 SKIV2L p.Val341Gly VAR_067721 rs281875237

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SKIV2L SKIV2L, TRP283TER undetermined variant Pathogenic
2 SKIV2L NM_006929.4(SKIV2L): c.1022T> G (p.Val341Gly) single nucleotide variant Pathogenic rs281875237 GRCh37 Chromosome 6, 31929789: 31929789
3 SKIV2L NM_006929.4(SKIV2L): c.1022T> G (p.Val341Gly) single nucleotide variant Pathogenic rs281875237 GRCh38 Chromosome 6, 31962012: 31962012
4 SKIV2L SKIV2L, 1-BP INS, 1635A insertion Pathogenic

Expression for Trichohepatoenteric Syndrome 2

Search GEO for disease gene expression data for Trichohepatoenteric Syndrome 2.

Pathways for Trichohepatoenteric Syndrome 2

GO Terms for Trichohepatoenteric Syndrome 2

Sources for Trichohepatoenteric Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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