MCID: TRC078
MIFTS: 34

Trichohepatoenteric Syndrome 2

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

Aliases & Classifications for Trichohepatoenteric Syndrome 2

MalaCards integrated aliases for Trichohepatoenteric Syndrome 2:

Name: Trichohepatoenteric Syndrome 2 53 71 28 13 69
Thes2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
trichohepatoenteric syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 2

OMIM : 53 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 diarrhea, hypertelorism and failure to thrive. An important gene associated with Trichohepatoenteric Syndrome 2 is SKIV2L (Ski2 Like RNA Helicase). The drugs Ethanol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include lung, prostate and testes.

UniProtKB/Swiss-Prot : 71 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:

53
Skin Nails Hair Hair:
thin, sparse hair
woolly hair
trichorrhexis nodosa
uncombable hair
brittle hair
more
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Face:
prominent forehead
square forehead
prominent cheeks

Abdomen Gastroin testinal:
villous atrophy
colitis
diarrhea, severe and intractable

Growth Height:
decreased height

Immunology:
immune deficiency

Laboratory Abnormalities:
decreased serum iron (in some patients)

Head And Neck Eyes:
hypertelorism

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

Prenatal Manifestations:
intrauterine growth retardation

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 diarrhea 31 HP:0002014
2 hypertelorism 31 HP:0000316
3 failure to thrive 31 HP:0001508
4 hepatomegaly 31 HP:0002240
5 prominent forehead 31 HP:0011220
6 immunodeficiency 31 HP:0002721
7 hepatitis 31 HP:0012115
8 intrauterine growth retardation 31 HP:0001511
9 cirrhosis 31 HP:0001394
10 wide nose 31 HP:0000445
11 woolly hair 31 HP:0002224
12 sparse hair 31 HP:0008070
13 trichorrhexis nodosa 31 HP:0009886
14 pili canaliculi 31 HP:0002235
15 small for gestational age 31 HP:0001518
16 uncombable hair 31 HP:0030056
17 brittle hair 31 HP:0002299
18 villous atrophy 31 HP:0011473
19 colitis 31 HP:0002583
20 decreased serum iron 31 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 1233)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
2
Heparin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 9005-49-6 46507594 772
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-02-2 5743
5
Carbamazepine Approved, Investigational Phase 4,Phase 3 298-46-4 2554
6
Nicotine Approved Phase 4,Phase 3,Phase 2,Phase 1 54-11-5 89594 942
7
Fenofibrate Approved Phase 4,Phase 2 49562-28-9 3339
8
Ezetimibe Approved Phase 4 163222-33-1 150311
9
Pravastatin Approved Phase 4 81093-37-0 54687
10
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
11
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
12
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
13
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
14
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
15
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
16
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
17
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 192725-17-0 92727
18
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2 154598-52-4 64139
19
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1 148-82-3 460612 4053
20
Carboplatin Approved Phase 4,Phase 3,Phase 1,Phase 2 41575-94-4 10339178 38904 498142
21
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
22
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
23
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
24
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
25
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
26
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1 73590-58-6 4594
27
Morphine Approved, Investigational Phase 4,Phase 2,Phase 1 57-27-2 5288826
28
Cimetidine Approved, Investigational Phase 4 51481-61-9 2756
29
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
30
Gliclazide Approved Phase 4 21187-98-4 3475
31
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
32
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 4091 14219
33
Losartan Approved Phase 4,Early Phase 1 114798-26-4 3961
34
Amlodipine Approved Phase 4,Phase 3,Phase 2 88150-42-9 2162
35 Lacidipine Approved, Investigational Phase 4 103890-78-4
36
Donepezil Approved Phase 4,Phase 2 120014-06-4 3152
37
Acetylcholine Approved Phase 4,Phase 2,Phase 3 51-84-3 187
38
Memantine Approved, Investigational Phase 4 19982-08-2 4054
39
Atropine Approved, Vet_approved Phase 4,Phase 3 5908-99-6, 51-55-8 174174
40
Succinylcholine Approved Phase 4 306-40-1 5314
41
Aminolevulinic acid Approved Phase 4,Phase 3 106-60-5 137
42
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
43
Cilostazol Approved, Investigational Phase 4,Phase 3 73963-72-1 2754
44
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-45-6, 75614-87-8 774
45
Propranolol Approved, Investigational Phase 4 525-66-6 4946
46
Etanercept Approved, Investigational Phase 4 185243-69-0
47
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 174722-31-7 10201696
48
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 657311 5754
49
Famotidine Approved Phase 4,Phase 2 76824-35-6 3325
50
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2 58-61-7 60961

Interventional clinical trials:

(show top 50) (show all 2352)

# Name Status NCT ID Phase Drugs
1 The Safety and Immunogenicity Research of Live Attenuated Varicella Vaccine After the 2 Doses Vaccination Unknown status NCT01866566 Phase 4
2 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
3 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
4 TReatment by Insulin Continuous Infusion in Type 2 DIAbetes Unknown status NCT01889914 Phase 4 2 different procedures of administration of insulin
5 Paradigm Shift in the Treatment of Patients With ACS Unknown status NCT02041650 Phase 4 Ticagrelor
6 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
7 Prevention of Iron Deficiency in 2nd Year of Life Unknown status NCT00479102 Phase 4 Ferripel-3 - iron polysaccharide complex for prevention
8 Cellular and Humoral Immunity in Elderly After Immunization With a Japanese Encephalitis Vaccine Unknown status NCT01398540 Phase 4
9 Rapid Onset Action of Salbutamol Versus Formoterol Unknown status NCT00900874 Phase 4 salbutamol;Formoterol
10 The Effect of 21-Days Intranasal Oxytocin on Patients With Post Traumatic Stress Disorder (PTSD) Unknown status NCT02336568 Phase 4 Oxytoine;PLACEBO
11 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
12 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
13 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
14 Female Sexual Function and Back Pain Unknown status NCT01420276 Phase 4
15 Tramadol Extended-Release (ER) for Posttraumatic Stress Disorder (PTSD) Unknown status NCT01517711 Phase 4 Tramadol;Placebo
16 Spinal Cord Stimulation (SCS) in Refractory Angina Unknown status NCT00121654 Phase 4
17 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
18 Effect of Escitalopram vs. Reboxetine on Gastro-intestinal Sensitivity of Patients With Major Depressive Disorder Unknown status NCT00209807 Phase 4 escitalopram;Reboxetine
19 Esomeprazole or Famotidine in the Management of Aspirin Related Non-Ulcer Dyspepsia Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
20 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
21 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
22 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
23 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
24 Sufficient Treatment of Peripheral Intervention by Cilostazol Unknown status NCT00912756 Phase 4 cilostazol
25 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
26 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
27 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
28 Optimizing Psoriasis Treatment of Etanercept Combined Methotrexate Unknown status NCT02313922 Phase 4 etanercept combined with methotrexate or etanercept combined with placebo
29 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
30 Transcatheter Arterial Chemoembolization Combined With Sorafenib for Unresectable Hepatocellular Carcinoma Unknown status NCT01833299 Phase 4
31 Efficacy and Safety of Firebird 2 Stent in Treatment of Complex Coronary Lesions in Diabetes Unknown status NCT01257373 Phase 4
32 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
33 A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol Unknown status NCT01298284 Phase 4 propranolol
34 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4 Rotigotine;Placebo patchs
35 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
36 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
37 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
38 Amoxicillin Clavulanate in Treatment of Acute Otitis Media Unknown status NCT00299455 Phase 4 amoxicillin-clavulanate;Placebo
39 Kidney Biopsy Controlled Trial of Calcineurin Inhibitor Withdrawal Unknown status NCT00896012 Phase 4 Rapamune (sirolimus/rapamycin);Tacrolimus
40 Montelukast for Persistent Cough in Young People and Adults Unknown status NCT01279668 Phase 4 Montelukast;Placebo
41 Bone Forming at Prosthetic Surfaces. Fingerprint2 Unknown status NCT01623687 Phase 4
42 Effect of Lacidipine and Losartan on 24 Hour Systolic Blood Pressure Variability in Elderly Hypertensive Patients Unknown status NCT00533858 Phase 4 lacidipine (4 mg) or losartan (50 mg)
43 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
44 Efavirenz to Dolutegravir Switch in Patients With CNS Toxicity Unknown status NCT02285374 Phase 4 Dolutegravir, efavirenz, efavirenz/emtricitabine/tenofovir
45 An Intracavitary Electrocardiographic System for Real-time Positioning Peripherally Inserted Central Catheter Tip Unknown status NCT02409589 Phase 4
46 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
47 Immunogenicity of 3+1 Versus 2+1 Schedule for PCV7 Completed NCT02040402 Phase 4
48 Cohort Study in Uganda Comparing Artesunate + Amiodaquine (Coarsucam) Versus Artemether + Lumenfantrine (Coartem) in the Treatment of Repeated Uncomplicated Plasmodium Falciparum Malaria Attacks Completed NCT00699920 Phase 4 Coarsucam;Coartem
49 A Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction Completed NCT02663713 Phase 4 Ticagrelor;Clopidogrel
50 Study to Assess if Quinvaxem Can be Interchanged With Other Pentavalent Vaccines During Standard Childhood Vaccination Completed NCT01357720 Phase 4

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 28 SKIV2L

Anatomical Context for Trichohepatoenteric Syndrome 2

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 2:

38
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:

71
# 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 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
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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