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 54 24 71 29 13 69
Thes2 24 71

Characteristics:

OMIM:

54
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 : 54
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 failure to thrive, diarrhea and hepatomegaly. An important gene associated with Trichohepatoenteric Syndrome 2 is SKIV2L (Ski2 Like RNA Helicase). The drugs Iron and Insulin Detemir have been mentioned in the context of this disorder. Affiliated tissues include lung, prostate and bone.

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:

54

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

Head And Neck- Face:
prominent forehead
prominent cheeks
square forehead

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

Growth- Height:
decreased height

Cardiovascular- Heart:
cardiac abnormalities

Laboratory- Abnormalities:
decreased serum iron (in some patients)

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

Head And Neck- Eyes:
hypertelorism

Prenatal Manifestations:
intrauterine growth retardation

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

Head And Neck- Nose:
flat, broad nose

Immunology:
immune deficiency


Clinical features from OMIM:

614602

Human phenotypes related to Trichohepatoenteric Syndrome 2:

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

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 1253)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
2
Insulin Detemir Approved Phase 4 169148-63-4 5311023
3
Insulin-glulisine Approved Phase 4,Phase 3 207748-29-6
4
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
5
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
6
Ezetimibe Approved Phase 4 163222-33-1 150311
7
Fenofibrate Approved Phase 4,Phase 2 49562-28-9 3339
8
Pravastatin Approved Phase 4 81093-37-0 54687
9
Atropine Approved, Vet_approved Phase 4,Phase 3 5908-99-6, 51-55-8 174174
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
11
Succinylcholine Approved Phase 4 306-40-1 5314
12
Citalopram Approved Phase 4 59729-33-8 2771
13
Reboxetine Approved, Investigational Phase 4 98769-81-4, 71620-89-8 123628 65856
14
Amlodipine Approved Phase 4,Phase 3,Phase 2 88150-42-9 2162
15
Tramadol Approved, Investigational Phase 4,Phase 2,Phase 3 27203-92-5 33741
16
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
17
Esomeprazole Approved, Investigational Phase 4,Phase 3 161796-78-7, 119141-88-7 4594 9579578
18
Famotidine Approved Phase 4,Phase 2 76824-35-6 3325
19
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 75614-87-8, 51-45-6 774
20
Cilostazol Approved Phase 4,Phase 3 73963-72-1 2754
21
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
22
Donepezil Approved Phase 4,Phase 2 120014-06-4 3152
23
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
24
Memantine Approved, Investigational Phase 4 19982-08-2 4054
25
Aminolevulinic acid Approved Phase 4,Phase 3 106-60-5 137
26
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 73590-58-6 4594
27
Etanercept Approved, Investigational Phase 4,Phase 2,Phase 1 185243-69-0
28
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
29
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
30
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
31
Ethiodized oil Approved Phase 4 8008-53-5
32
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
33
Chromium Approved Phase 4 7440-47-3 27668
34
Everolimus Approved Phase 4,Phase 3,Phase 1,Phase 2 159351-69-6 6442177
35
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
36
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
37
Propranolol Approved, Investigational Phase 4 525-66-6 4946
38
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
39
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
40
Benzocaine Approved Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
41
Glipizide Approved Phase 4 29094-61-9 3478
42
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
43
Saxagliptin Approved Phase 4 361442-04-8 11243969
44
Amoxicillin Approved, Vet_approved Phase 4,Phase 3,Phase 2 26787-78-0 33613 2171
45
Halofantrine Approved Phase 4 69756-53-2 37393
46
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
47
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
48
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
49 Lacidipine Approved Phase 4 103890-78-4
50
Losartan Approved Phase 4,Early Phase 1 114798-26-4 3961

Interventional clinical trials:

(show top 50) (show all 2421)

id 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 Biannual Monitoring With Magnetic Resonance Imaging (MRI), X-ray, or Usual Care on Treatment for Inflammatory Arthritis Unknown status NCT00808496 Phase 4
11 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
12 Spinal Cord Stimulation (SCS) in Refractory Angina Unknown status NCT00121654 Phase 4
13 Effect of Escitalopram vs. Reboxetine on Gastro-intestinal Sensitivity of Patients With Major Depressive Disorder Unknown status NCT00209807 Phase 4 escitalopram;Reboxetine
14 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
15 Female Sexual Function and Back Pain Unknown status NCT01420276 Phase 4
16 Tramadol Extended-Release (ER) for Posttraumatic Stress Disorder (PTSD) Unknown status NCT01517711 Phase 4 Tramadol;Placebo
17 Esomeprazole or Famotidine in the Management of Aspirin Related Non-Ulcer Dyspepsia Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
18 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
19 Sufficient Treatment of Peripheral Intervention by Cilostazol Unknown status NCT00912756 Phase 4 cilostazol
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 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
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 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
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 Optimizing Psoriasis Treatment of Etanercept Combined Methotrexate Unknown status NCT02313922 Phase 4 etanercept combined with methotrexate or etanercept combined with placebo
27 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
28 Transcatheter Arterial Chemoembolization Combined With Sorafenib for Unresectable Hepatocellular Carcinoma Unknown status NCT01833299 Phase 4
29 Efficacy and Safety of Firebird 2 Stent in Treatment of Complex Coronary Lesions in Diabetes Unknown status NCT01257373 Phase 4
30 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
31 A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol Unknown status NCT01298284 Phase 4 propranolol
32 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
33 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4 Rotigotine;Placebo patchs
34 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
35 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
36 The Effect of Vitamin D3 to Maintain Surgical Remission in Postoperative Crohn's Disease Unknown status NCT02010762 Phase 4 Vitamin D;Placebo
37 Amoxicillin Clavulanate in Treatment of Acute Otitis Media Unknown status NCT00299455 Phase 4 amoxicillin-clavulanate;Placebo
38 Kidney Biopsy Controlled Trial of Calcineurin Inhibitor Withdrawal Unknown status NCT00896012 Phase 4 Rapamune (sirolimus/rapamycin);Tacrolimus
39 Montelukast for Persistent Cough in Young People and Adults Unknown status NCT01279668 Phase 4 Montelukast;Placebo
40 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)
41 Bone Forming at Prosthetic Surfaces. Fingerprint2 Unknown status NCT01623687 Phase 4
42 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
43 Efavirenz to Dolutegravir Switch in Patients With CNS Toxicity Unknown status NCT02285374 Phase 4 Dolutegravir, efavirenz, efavirenz/emtricitabine/tenofovir
44 An Intracavitary Electrocardiographic System for Real-time Positioning Peripherally Inserted Central Catheter Tip Unknown status NCT02409589 Phase 4
45 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
46 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
47 Prednisolone Priming Study in Patients With Chronic Hepatitis B Unknown status NCT00778596 Phase 4 Prednisolone;Placebo priming
48 Intralipid for Recurrent Miscarriage Unknown status NCT01788540 Phase 4 Intralipid
49 Cardiopulmonary Capacity in Elderly With Different Ranges of Serum Thyroid Stimulating Hormone Unknown status NCT01849861 Phase 4 Methimazole
50 Immunogenicity of 3+1 Versus 2+1 Schedule for PCV7 Completed NCT02040402 Phase 4

Search NIH Clinical Center for Trichohepatoenteric Syndrome 2

Genetic Tests for Trichohepatoenteric Syndrome 2

Genetic tests related to Trichohepatoenteric Syndrome 2:

id Genetic test Affiliating Genes
1 Trichohepatoenteric Syndrome 2 29 24 SKIV2L

Anatomical Context for Trichohepatoenteric Syndrome 2

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 2:

39
Lung, Prostate, Bone, Testes, Heart, Brain, B Cells

Publications for Trichohepatoenteric Syndrome 2

Variations for Trichohepatoenteric Syndrome 2

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

71
id Symbol AA change Variation ID SNP ID
1 SKIV2L p.Val341Gly VAR_067721 rs281875237

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 2:

6
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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42 MeSH
43 MESH via Orphanet
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51 NINDS
52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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