MCID: TRC086
MIFTS: 54

Trichohepatoenteric Syndrome 1

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

Aliases & Classifications for Trichohepatoenteric Syndrome 1

MalaCards integrated aliases for Trichohepatoenteric Syndrome 1:

Name: Trichohepatoenteric Syndrome 1 53 38 71 28 13
Trichohepatoenteric Syndrome 23 49 24 55 28 69
Tricho-Hepato-Enteric Syndrome 38 72 49 24 55
Syndromic Diarrhea 38 49 24 55 71
Sd/the 23 49 24 55
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 23 49 55
Phenotypic Diarrhea of Infancy 23 24 71
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 53 24
Intractable Diarrhea with Phenotypic Anomalies 24 71
Diarrhea, Syndromic 53 24
Phenotypic Diarrhea 49 55
Thes1 53 71
Thes 23 24
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 71
Syndromatic Diarrhea 49

Characteristics:

Orphanet epidemiological data:

55
syndromic diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first month of life
patients need lifelong total parenteral nutrition
often fatal due in infancy due to intractable diarrhea


HPO:

31
trichohepatoenteric syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 1

NIH Rare Diseases : 49 Trichohepatoenteric syndrome is a condition that affects the hair, liver, and intestines. The condition is characterized by chronic diarrhea that begins during the first six months after birth. Continued diarrhea can lead to an inability to gain weight (failure to thrive). Trichohepatoenteric syndrome also causes liver disease such as cirrhosis (chronic liver damage) or hepatomegaly (swollen liver). Affected individuals may have wooly or patchy hair. Tirchohepatoenteric syndrome is caused by mutations in TTC37or SKIV2L and is inherited in an autosomal recessive manner. The condition can be diagnosed by clinical examination and confirmed by genetic testing.Treatment options include nutrition through an IV (parenteral nutrition). Last updated: 1/31/2017

MalaCards based summary : Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to diarrhea and agenesis of the corpus callosum with peripheral neuropathy, and has symptoms including diarrhea, hypertelorism and low-set ears. An important gene associated with Trichohepatoenteric Syndrome 1 is TTC37 (Tetratricopeptide Repeat Domain 37), and among its related pathways/superpathways is Deadenylation-dependent mRNA decay. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and lung.

OMIM : 53 Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). (222470)

UniProtKB/Swiss-Prot : 71 Trichohepatoenteric syndrome 1: 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.

Genetics Home Reference : 24 Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life.

Wikipedia : 72 Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely... more...

GeneReviews: NBK475802

Related Diseases for Trichohepatoenteric Syndrome 1

Diseases in the Trichohepatoenteric Syndrome 1 family:

Trichohepatoenteric Syndrome 2

Diseases related to Trichohepatoenteric Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 359)
# Related Disease Score Top Affiliating Genes
1 diarrhea 29.0 SKIV2L TTC37
2 agenesis of the corpus callosum with peripheral neuropathy 12.0
3 congenitally corrected transposition of the great arteries 12.0
4 sudden infant death with dysgenesis of the testes syndrome 12.0
5 transposition of the great arteries, dextro-looped 1 11.9
6 primary angiitis of the central nervous system 11.9
7 dextro-looped transposition of the great arteries 11.9
8 ossification of the posterior longitudinal ligament of spine 11.9
9 maturity-onset diabetes of the young 11.9
10 transient bullous dermolysis of the newborn 11.9
11 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 11.9
12 arteriovenous malformations of the brain 11.9
13 maturity-onset diabetes of the young, type 6 11.9
14 maturity-onset diabetes of the young, type 9 11.9
15 transposition of the great arteries 11.9
16 maturity-onset diabetes of the young, type 2 11.9
17 maturity-onset diabetes of the young, type 3 11.9
18 maturity-onset diabetes of the young, type 1 11.9
19 osteonecrosis of the jaw 11.9
20 transposition of the great arteries, dextro-looped 3 11.9
21 maturity-onset diabetes of the young, type 4 11.8
22 granulosa cell tumor of the ovary 11.8
23 mononeuropathy of the median nerve, mild 11.8
24 maturity-onset diabetes of the young, type 10 11.8
25 maturity-onset diabetes of the young, type 13 11.8
26 familial avascular necrosis of the femoral head 11.8
27 adenosarcoma of the uterus 11.8
28 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.8
29 developmental dysplasia of the hip 1 11.8
30 preterm premature rupture of the membranes 11.8
31 macrodactyly of the hand 11.8
32 littoral cell angioma of the spleen 11.8
33 small cell cancer of the lung 11.8
34 glassy cell carcinoma of the cervix 11.8
35 hypertrophy of the breast, juvenile 11.8
36 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.8
37 condensing osteitis of the clavicle 11.8
38 ectasia of the left atrial appendage 11.8
39 superficial siderosis of the central nervous system 11.8
40 developmental dysplasia of the hip 2 11.8
41 maturity-onset diabetes of the young, type 7 11.8
42 anomalous left coronary artery from the pulmonary artery 11.8
43 azygos continuation of the inferior vena cava 11.8
44 papillary tumor of the pineal region 11.8
45 grouped pigmentation of the retina 11.8
46 epiphysiolysis of the hip 11.8
47 angiosarcoma of the scalp 11.7
48 congenital pseudoarthrosis of the tibia 11.7
49 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.7
50 hypotrichosis simplex of the scalp 11.7

Graphical network of the top 20 diseases related to Trichohepatoenteric Syndrome 1:



Diseases related to Trichohepatoenteric Syndrome 1

Symptoms & Phenotypes for Trichohepatoenteric Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Hair:
thin, sparse hair
curly hair
woolly hair
trichorrhexis nodosa
brittle hair

Head And Neck Ears:
low-set ears
small ears
simple ears

Abdomen Liver:
hepatomegaly
cirrhosis
cholestatic jaundice
progressive liver failure
increased iron in hepatocytes
more
Prenatal Manifestations:
intrauterine growth retardation

Prenatal Manifestations Placenta And Umbilical Cord:
large placenta

Abdomen Gastroin testinal:
villous atrophy
diarrhea, secretory, severe

Cardiovascular Heart:
tetralogy of fallot (rare)
ventricular septal defect (rare)
aortic insufficiency (in some patients)
pulmonary stenosis (rare)

Head And Neck Nose:
upturned nose
flat, broad nose

Abdomen Pancreas:
islet cell hyperplasia

Neurologic Central Nervous System:
mental impairment

Hematology:
thrombocytosis (in some patients)
large platelets (in some patients)

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent eyes

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

Head And Neck Face:
prominent forehead
long philtrum
square forehead
prominent cheeks
flat supraorbital ridges

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Laboratory Abnormalities:
hypoalbuminemia
galactosuria without galactosemia
hypermethioninemia, progressive
increased serum methionine (reported in 2 cases)
abnormal serum liver enzyme levels
more
Head And Neck Mouth:
small mouth
large mouth
cleft uvula

Growth Weight:
low birth weight

Growth Height:
decreased height

Genitourinary Kidneys:
cortical microcysts

Metabolic Features:
neonatal hemochromatosis

Immunology:
defective antibody response
defective antigen-specific skin response


Clinical features from OMIM:

222470

Human phenotypes related to Trichohepatoenteric Syndrome 1:

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 diarrhea 31 HP:0002014
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 frontal bossing 31 HP:0002007
5 failure to thrive 31 HP:0001508
6 hepatomegaly 31 HP:0002240
7 microtia 31 HP:0008551
8 anteverted nares 31 HP:0000463
9 short stature 31 HP:0004322
10 cognitive impairment 31 HP:0100543
11 prominent forehead 31 HP:0011220
12 long philtrum 31 HP:0000343
13 intrauterine growth retardation 31 HP:0001511
14 hepatic fibrosis 31 HP:0001395
15 cirrhosis 31 HP:0001394
16 abnormality of iron homeostasis 31 HP:0011031
17 jaundice 31 HP:0000952
18 wide mouth 31 HP:0000154
19 depressed nasal ridge 31 HP:0000457
20 abnormality of the pancreas 31 HP:0001732
21 downslanted palpebral fissures 31 HP:0000494
22 abnormality of the immune system 31 HP:0002715
23 narrow mouth 31 HP:0000160
24 polyhydramnios 31 HP:0001561
25 tetralogy of fallot 31 occasional (7.5%) HP:0001636
26 ventricular septal defect 31 occasional (7.5%) HP:0001629
27 thrombocytosis 31 occasional (7.5%) HP:0001894
28 cholestasis 31 HP:0001396
29 fine hair 31 HP:0002213
30 pulmonic stenosis 31 occasional (7.5%) HP:0001642
31 curly hair 31 HP:0002212
32 hepatic failure 31 HP:0001399
33 proptosis 31 HP:0000520
34 wide nose 31 HP:0000445
35 woolly hair 31 HP:0002224
36 sparse hair 31 HP:0008070
37 large placenta 31 HP:0006267
38 bifid uvula 31 HP:0000193
39 underdeveloped supraorbital ridges 31 HP:0009891
40 trichorrhexis nodosa 31 HP:0009886
41 aortic regurgitation 31 occasional (7.5%) HP:0001659
42 hypoalbuminemia 31 HP:0003073
43 small for gestational age 31 HP:0001518
44 brittle hair 31 HP:0002299
45 villous atrophy 31 HP:0011473
46 galactosuria 31 HP:0012023
47 renal cortical microcysts 31 HP:0004734
48 hypermethioninemia 31 HP:0003235
49 increased mean platelet volume 31 occasional (7.5%) HP:0011877
50 intractable diarrhea 31 HP:0002041

UMLS symptoms related to Trichohepatoenteric Syndrome 1:


thin, sparse hair, infantile diarrhea

Drugs & Therapeutics for Trichohepatoenteric Syndrome 1

Drugs for Trichohepatoenteric Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 910)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
3
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
4
Cisplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 15663-27-1 2767 441203 84093
5
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
6
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
7
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
8
Ticagrelor Approved Phase 4 274693-27-5 9871419
9
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
10
Artemether Approved Phase 4 71963-77-4 68911 119380
11
Lumefantrine Approved Phase 4 82186-77-4 6437380
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
13
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
14
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
15
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61825-94-3 43805 6857599 5310940 9887054
16
Vancomycin Approved Phase 4,Phase 3 1404-90-6 14969 441141
17
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
18
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
19
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 33069-62-4 36314
20
Misoprostol Approved Phase 4,Phase 3 59122-46-2 5282381
21
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
22
Amoxicillin Approved, Vet_approved Phase 4,Phase 2 26787-78-0 33613 2171
23
Clarithromycin Approved Phase 4,Phase 2 81103-11-9 84029
24
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1 148-82-3 460612 4053
25
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
26
Clopidogrel Approved Phase 4,Phase 2,Phase 3,Phase 1 120202-66-6, 113665-84-2 60606
27
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
28
Etanercept Approved, Investigational Phase 4,Phase 2,Phase 1 185243-69-0
29
Acetaminophen Approved Phase 4,Phase 1,Phase 2 103-90-2 1983
30
Menthol Approved Phase 4,Phase 1 2216-51-5 16666
31
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 2078-54-8 4943
32
Remifentanil Approved Phase 4 132875-61-7 60815
33
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
34
Liraglutide Approved Phase 4 204656-20-2 44147092
35
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 4091 14219
36
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 1 54-31-9 3440
37
Spironolactone Approved Phase 4,Phase 2 1952-01-7, 52-01-7 5833
38
Cobicistat Approved Phase 4 1004316-88-4
39
Emtricitabine Approved, Investigational Phase 4,Phase 2,Phase 1 143491-57-0 60877
40
Zoledronic acid Approved Phase 4 118072-93-8 68740
41
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 1 137-58-6 3676
42
Salicylic acid Approved, Investigational, Vet_approved Phase 4,Phase 1 69-72-7 338
43 sodium fluoride Approved Phase 4 7681-49-4
44
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-78-2 2244
45
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
46
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
47
Terbutaline Approved Phase 4 23031-25-6 5403
48
Allopurinol Approved Phase 4 315-30-0 2094
49
Sodium oxybate Approved Phase 4 502-85-2 5360545
50
Pantoprazole Approved Phase 4 102625-70-7 4679

Interventional clinical trials:

(show top 50) (show all 1246)

# Name Status NCT ID Phase Drugs
1 Prednisolone Priming Study in Patients With Chronic Hepatitis B Unknown status NCT00778596 Phase 4 Prednisolone;Placebo priming
2 Cardiopulmonary Capacity in Elderly With Different Ranges of Serum Thyroid Stimulating Hormone Unknown status NCT01849861 Phase 4 Methimazole
3 Study of Concurrent Chemo-radiotherapy Combined With Recombinant Human Endostatin for Local Advanced Non-small Cell Lung Cancer (NSCLC) Unknown status NCT01211002 Phase 4 radiotherapy / EP combined with recombinant human endostatin
4 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
5 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4 ticagrelor
6 Long Acting FSH Plus Antagonist Versus Daily FSH Plus Antagonist Versus Short Agonist Protocol in Poor Responders Undergoing IVF Unknown status NCT02070198 Phase 4 Long acting FSH and GnRH antagonist;Daily FSH and GnRH antagonist;Triptorelin and recombinant FSH
7 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
8 Desmopressin Melt Therapy in Nocturnal Polyuria Patients: Pharmacodynamic Study Unknown status NCT01439997 Phase 4 Desmopressin
9 Sternal Closure With Biologic Bone Cement in Patients Undergoing Coronary Artery Bypass Grafting (CABG) Unknown status NCT01261858 Phase 4
10 Improving Anti-malarial Treatment Options in Guinea-Bissau - Part A Unknown status NCT01704508 Phase 4 Artemether-lumefantrine;Dihydroartemisinin-piperaquine
11 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
12 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
13 Treatment of Cheyne Stocks Respiration With Adaptive Servo Ventilation and Bilevel Ventilators in Patients With Chronic Heart Failure Unknown status NCT00725595 Phase 4
14 Safety and Efficacy of the Full Face Applications of Variable Doses of a Commercial Botulinum Toxin Type a (Dysport®) Unknown status NCT01032954 Phase 4 Botulinum toxin
15 OPTIMOX1 in Chinese mCRC Patients Unknown status NCT01023633 Phase 4 Oxaliplatin, LV, 5-FU
16 Vancomycin Prophylaxis in Recurrent Clostridium Difficile Infection Unknown status NCT02237859 Phase 4 Vancomycin
17 Effect of Adductor-Canal-Blockade on High Pain Responders After Total Knee Arthroplasty Completed NCT01549704 Phase 4 Ropivacaine;Saline
18 Early Assessment of the Response to Neo-adjuvant Chemotherapy in Breast Cancer Patients With FDG-PET Completed NCT00904410 Phase 4
19 Evaluation of Antibody Persistence Following 4 MenACWY Vaccinations Completed NCT02446691 Phase 4
20 Persistence of Hepatitis B Antibody Levels & Immune Response to a Hepatitis B Vaccine Challenge Completed NCT00411697 Phase 4
21 Remifentanil on Hemodynamic Response to Anesthesia Induction Completed NCT02763098 Phase 4 Remi 0.1;Remi 0.2;Remi 0.3
22 Impact of Liraglutide on Endothelial Function and Microvascular Blood Flow in Type 2 Diabetes Mellitus Completed NCT01208012 Phase 4 Victoza®
23 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
24 Sodium-Restricted Diet and Diuretic in the Treatment of Severe Sleep Apnea Completed NCT01945801 Phase 4 Lasilactone;Placebo
25 An Open Label Trial of Stribild for Antiretroviral (ARV)-naïve HIV-2 Infected Adults in Dakar, Senegal Completed NCT02180438 Phase 4 Stribild (Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF) 1 tablet daily X 48 weeks
26 Effect of Nervus Cutaneous Femoris Lateralis-Blockade on Moderate Pain Responders After Total Hip Arthroplasty Completed NCT02344264 Phase 4 Ropivacaine;Saline
27 Changes of GCF Levels of RANKL and Osteoprotegerin in Postmenopausal Osteoporosis Completed NCT02808988 Phase 4
28 Clinical Use of an Absorbable Coated Suture Material in Surgery (Safil) Completed NCT00645684 Phase 4
29 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
30 Use of Fissure Sealants on Primary Molars Completed NCT01438866 Phase 4
31 Compare the Efficacy of Different Antiplatelet Therapy Strategy After Coronary Artery Bypass Graft Surgery Completed NCT02201771 Phase 4 Aspirin;Ticagrelor
32 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
33 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
34 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4 Terbutaline Infusion
35 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women Completed NCT01628705 Phase 4
36 Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study Completed NCT01951404 Phase 4 Allopurinol;Placebo (for allopurinol)
37 Growing Future Physician Leaders: A Randomized Trial of an Educational Intervention in Postgraduate Trainees Completed NCT00286975 Phase 4
38 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4 Sodium Oxybate
39 A Study of Rabeprazole and Pantoprazole on Stomach Acid and Esophageal Acid Exposure in Patients With Gastroesophageal Reflux Disease (GERD) and a History of Nighttime Heartburn Completed NCT00237367 Phase 4 rabeprazole and pantoprazole
40 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
41 Overall Performance of a 1-day Silicone Hydrogel Lens When Habitual Soft Lens Wearers Are Refit Completed NCT02588573 Phase 4
42 Evaluation of The Effects of Nebivolol in Comparison to Atenolol on Wall Shear Stress and Rupture Prone Coronary Plaques Completed NCT01230892 Phase 4 Nebivolol;Atenolol
43 Effectiveness of Podiatry on Plantar Pain Completed NCT00888394 Phase 4
44 Per-cutaneous Intervention Based Paclitaxel and Sirolimus-Eluting Versus Bare Stents for the Treatment of de Novo Coronary Lesions (PAINT) Completed NCT00752362 Phase 4
45 Promoting Breast Cancer Screening in Non-adherent Women Completed NCT01332032 Phase 4
46 Intralipid for Recurrent Miscarriage Completed NCT01788540 Phase 4 Intralipid
47 Vilazodone for Treatment of Geriatric Depression Completed NCT01608295 Phase 4 Vilazodone; Viibryd;Paroxetine; Paxil
48 Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer's Disease Completed NCT00561392 Phase 4 Rivastigmine 5 and 10 cm^2 patch
49 Cortisone Injection vs Trigger Point Dry Needling Fin the Treatment of Greater Trochanter Pain Syndrome: A Pilot Study Completed NCT02639039 Phase 4 Cortisone Injection
50 Nasal Budesonide Efficacy on Nasal FeNO in Children With Allergic Rhinitis Completed NCT02409563 Phase 4 Budesonide nasal spray (100 mcg bid);Budesonide nasal spray (50 mcg bid

Search NIH Clinical Center for Trichohepatoenteric Syndrome 1

Genetic Tests for Trichohepatoenteric Syndrome 1

Genetic tests related to Trichohepatoenteric Syndrome 1:

# Genetic test Affiliating Genes
1 Trichohepatoenteric Syndrome 1 28 TTC37
2 Trichohepatoenteric Syndrome 28

Anatomical Context for Trichohepatoenteric Syndrome 1

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 1:

38
Liver, Testes, Lung, Brain, Kidney, Heart, Bone

Publications for Trichohepatoenteric Syndrome 1

Articles related to Trichohepatoenteric Syndrome 1:

# Title Authors Year
1
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. ( 27050310 )
2016
2
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. ( 27431780 )
2016
3
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. ( 22444670 )
2012
4
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). ( 20176027 )
2010

Variations for Trichohepatoenteric Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Trichohepatoenteric Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 TTC37 p.Gly251Arg VAR_067957 rs763816083
2 TTC37 p.Asp1283Asn VAR_067958
3 TTC37 p.Leu1505Ser VAR_067959 rs376720108

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC37 TTC37, IVS28AS, G-A, -2 single nucleotide variant Pathogenic
2 TTC37 NM_014639.3(TTC37): c.1632+1delG deletion Pathogenic rs1060499527 GRCh38 Chromosome 5, 95523654: 95523654
3 TTC37 NM_014639.3(TTC37): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs387907147 GRCh37 Chromosome 5, 94876498: 94876498
4 TTC37 NM_014639.3(TTC37): c.2251C> T (p.Gln751Ter) single nucleotide variant Pathogenic rs387907148 GRCh37 Chromosome 5, 94852890: 94852890
5 TTC37 NM_014639.3(TTC37): c.2515+1G> C single nucleotide variant Pathogenic rs1060499528 GRCh37 Chromosome 5, 94852375: 94852375
6 TTC37 NG_023414.1: g.43590_43594delTTTTT deletion Pathogenic rs746874042 GRCh38 Chromosome 5, 95516412: 95516416
7 TTC37 NM_014639.3(TTC37): c.4620+1G> C single nucleotide variant Pathogenic rs370373017 GRCh37 Chromosome 5, 94803569: 94803569
8 TTC37 NM_014639.3(TTC37): c.2808G> A (p.Trp936Ter) single nucleotide variant Pathogenic rs534237033 GRCh37 Chromosome 5, 94848293: 94848293

Expression for Trichohepatoenteric Syndrome 1

Search GEO for disease gene expression data for Trichohepatoenteric Syndrome 1.

Pathways for Trichohepatoenteric Syndrome 1

Pathways related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 SKIV2L TTC37

GO Terms for Trichohepatoenteric Syndrome 1

Cellular components related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ski complex GO:0055087 8.62 SKIV2L TTC37

Biological processes related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.62 SKIV2L TTC37

Sources for Trichohepatoenteric Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
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