MCID: TRC086
MIFTS: 51

Trichohepatoenteric Syndrome 1

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

Aliases & Classifications for Trichohepatoenteric Syndrome 1

MalaCards integrated aliases for Trichohepatoenteric Syndrome 1:

Name: Trichohepatoenteric Syndrome 1 54 39 24 71 29 13
Trichohepatoenteric Syndrome 50 25 56 29 69
Syndromic Diarrhea 39 50 25 56 71
Tricho-Hepato-Enteric Syndrome 39 50 25 56
Sd/the 50 25 56
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 24 25
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 50 56
Intractable Diarrhea with Phenotypic Anomalies 25 71
Phenotypic Diarrhea of Infancy 25 71
Phenotypic Diarrhea 50 56
Diarrhea, Syndromic 24 25
Thes1 24 71
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 71
Syndromatic Diarrhea 50
Thes 25

Characteristics:

Orphanet epidemiological data:

56
syndromic diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

54
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:

32
trichohepatoenteric syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 1

NIH Rare Diseases : 50 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 trichohepatoenteric syndrome 2 and congenitally corrected transposition of the great arteries, and has symptoms including short stature, failure to thrive and diarrhea. 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.

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 : 25 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.

OMIM : 54
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)

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

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 680)
id Related Disease Score Top Affiliating Genes
1 trichohepatoenteric syndrome 2 12.2
2 congenitally corrected transposition of the great arteries 11.9
3 sudden infant death with dysgenesis of the testes syndrome 11.9
4 agenesis of the corpus callosum with peripheral neuropathy 11.8
5 primary angiitis of the central nervous system 11.8
6 ossification of the posterior longitudinal ligament of spine 11.8
7 maturity-onset diabetes of the young 11.8
8 transposition of the great arteries 11.8
9 osteonecrosis of the jaw 11.8
10 transposition of the great arteries, dextro-looped 1 11.8
11 avascular necrosis of the femoral head 11.7
12 granulosa cell tumor of the ovary 11.7
13 dextro-looped transposition of the great arteries 11.7
14 maturity-onset diabetes of the young, type 13 11.7
15 familial avascular necrosis of the femoral head 11.7
16 agenesis of the dorsal pancreas 11.7
17 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.7
18 maturity-onset diabetes of the young, type viii 11.7
19 anomalous left coronary artery from the pulmonary artery 11.7
20 adenosarcoma of the uterus 11.7
21 macrodactyly of the hand 11.7
22 glassy cell carcinoma of the cervix 11.7
23 hypertrophy of the breast, juvenile 11.7
24 preterm premature rupture of the membranes 11.7
25 condensing osteitis of the clavicle 11.7
26 superficial siderosis of the central nervous system 11.7
27 transient bullous of the newborn 11.7
28 maturity-onset diabetes of the young 6 11.7
29 papillary tumor of the pineal region 11.7
30 azygos continuation of the inferior vena cava 11.7
31 littoral cell angioma of the spleen 11.7
32 maturity-onset diabetes of the young, type ix 11.7
33 maturity-onset diabetes of the young, type vii 11.7
34 maturity-onset diabetes of the young, type 11 11.6
35 angiosarcoma of the scalp 11.6
36 hypotrichosis simplex of the scalp 11.6
37 juxtaposition of the atrial appendages 11.6
38 maturity-onset diabetes of the young, type 10 11.6
39 maturity-onset diabetes of the young, type 14 11.6
40 transient tyrosinemia of the newborn 11.6
41 congenital absence of the vas deferens 11.6
42 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.6
43 neuroendocrine carcinoma of the cervix 11.6
44 mononeuropathy of the median nerve, mild 11.6
45 transient hyperammonemia of the newborn 11.6
46 small cell carcinoma of the bladder 11.6
47 congenital pseudoarthrosis of the tibia 11.6
48 agenesis of the superior vena cava 11.6
49 congenital dislocation of the patella 11.6
50 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.6

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:

54

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

Abdomen- Liver:
hepatomegaly
cirrhosis
progressive liver failure
cholestatic jaundice
increased iron in hepatocytes
more
Head And Neck- Ears:
low-set ears
small ears
simple ears

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

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Growth- Weight:
low birth weight

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

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

Abdomen- Pancreas:
islet cell hyperplasia

Neurologic- Central Nervous System:
mental impairment

Immunology:
defective antibody response
defective antigen-specific skin response

Head And Neck- Mouth:
large mouth
small mouth
cleft uvula

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism
prominent eyes

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

Prenatal Manifestations:
intrauterine growth retardation

Head And Neck- Nose:
upturned nose
flat, broad nose

Laboratory- Abnormalities:
hypoalbuminemia
galactosuria without galactosemia
hypermethioninemia, progressive
increased serum methionine (reported in 2 cases)
abnormal serum liver enzyme levels
more
Abdomen- Gastroin testinal:
villous atrophy
diarrhea, secretory, severe

Growth- Height:
decreased height

Genitourinary- Kidneys:
cortical microcysts

Metabolic Features:
neonatal hemochromatosis

Prenatal Manifestations- Placenta And Umbilical Cord:
large placenta


Clinical features from OMIM:

222470

Human phenotypes related to Trichohepatoenteric Syndrome 1:

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

UMLS symptoms related to Trichohepatoenteric Syndrome 1:


infantile diarrhea, thin, sparse hair

Drugs & Therapeutics for Trichohepatoenteric Syndrome 1

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

(show top 50) (show all 894)
id 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 84093 441203 2767
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 119380 68911
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 5310940 9887054 43805 6857599
16
Vancomycin Approved Phase 4,Phase 3 1404-90-6 441141 14969
17
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
18
Gliclazide Approved Phase 4 21187-98-4 3475
19
Linagliptin Approved Phase 4,Phase 1,Phase 2 668270-12-0 10096344
20
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
21
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
22
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 216974-75-3
23
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
24
Misoprostol Approved Phase 4,Phase 3 59122-46-2 5282381
25
Amoxicillin Approved, Vet_approved Phase 4,Phase 2 26787-78-0 33613 2171
26
Clarithromycin Approved Phase 4,Phase 2 81103-11-9 84029
27
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
28
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
29
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-02-2 5743
30
Etanercept Approved, Investigational Phase 4,Phase 2,Phase 1 185243-69-0
31
Acetaminophen Approved Phase 4,Phase 1,Phase 2 103-90-2 1983
32
Menthol Approved Phase 4,Phase 1 2216-51-5 16666
33
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 2078-54-8 4943
34
Remifentanil Approved Phase 4 132875-61-7 60815
35
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
36
Liraglutide Approved Phase 4 204656-20-2 44147092
37
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
38
Cobicistat Approved Phase 4 1004316-88-4
39
Emtricitabine Approved, Investigational Phase 4,Phase 2,Phase 1 143491-57-0 60877
40
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 1 54-31-9 3440
41
Spironolactone Approved Phase 4,Phase 2 1952-01-7, 52-01-7 5833
42
Zoledronic acid Approved Phase 4 118072-93-8 68740
43
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
44
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
45
Terbutaline Approved Phase 4 23031-25-6 5403
46
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Early Phase 1 347396-82-1 459903
47
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 1 137-58-6 3676
48
Pantoprazole Approved Phase 4 102625-70-7 4679
49
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
50
Salicylic acid Approved, Vet_approved Phase 4,Phase 1 69-72-7 338

Interventional clinical trials:

(show top 50) (show all 1172)

id 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 Intralipid for Recurrent Miscarriage Unknown status NCT01788540 Phase 4 Intralipid
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 Safety Evaluation of Adverse Reactions in Diabetes Unknown status NCT02092597 Phase 4 Exenatide;Linagliptin;Gliclazide
18 Effect of Adductor-Canal-Blockade on High Pain Responders After Total Knee Arthroplasty Completed NCT01549704 Phase 4 Ropivacaine;Saline
19 Early Assessment of the Response to Neo-adjuvant Chemotherapy in Breast Cancer Patients With FDG-PET Completed NCT00904410 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 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
25 Sodium-Restricted Diet and Diuretic in the Treatment of Severe Sleep Apnea Completed NCT01945801 Phase 4 Lasilactone;Placebo
26 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
27 Effect of Nervus Cutaneous Femoris Lateralis-Blockade on Moderate Pain Responders After Total Hip Arthroplasty Completed NCT02344264 Phase 4 Ropivacaine;Saline
28 Changes of GCF Levels of RANKL and Osteoprotegerin in Postmenopausal Osteoporosis Completed NCT02808988 Phase 4
29 Overall Performance of a 1-day Silicone Hydrogel Lens When Habitual Soft Lens Wearers Are Refit Completed NCT02588573 Phase 4
30 Clinical Use of an Absorbable Coated Suture Material in Surgery (Safil) Completed NCT00645684 Phase 4
31 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4 Terbutaline Infusion
32 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
33 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
34 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
35 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
36 Growing Future Physician Leaders: A Randomized Trial of an Educational Intervention in Postgraduate Trainees Completed NCT00286975 Phase 4
37 Use of Fissure Sealants on Primary Molars Completed NCT01438866 Phase 4
38 Compare the Efficacy of Different Antiplatelet Therapy Strategy After Coronary Artery Bypass Graft Surgery Completed NCT02201771 Phase 4 Aspirin;Ticagrelor
39 Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study Completed NCT01951404 Phase 4 Allopurinol;Placebo (for allopurinol)
40 Per-cutaneous Intervention Based Paclitaxel and Sirolimus-Eluting Versus Bare Stents for the Treatment of de Novo Coronary Lesions (PAINT) Completed NCT00752362 Phase 4
41 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women Completed NCT01628705 Phase 4
42 Effectiveness of Podiatry on Plantar Pain Completed NCT00888394 Phase 4
43 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4 Sodium Oxybate
44 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
45 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
46 Promoting Breast Cancer Screening in Non-adherent Women Completed NCT01332032 Phase 4
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:

id Genetic test Affiliating Genes
1 Trichohepatoenteric Syndrome 1 29 24 TTC37
2 Trichohepatoenteric Syndrome 29

Anatomical Context for Trichohepatoenteric Syndrome 1

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 1:

39
Liver, Testes, Lung, Brain, Heart, Kidney, Bone

Publications for Trichohepatoenteric Syndrome 1

Variations for Trichohepatoenteric Syndrome 1

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

71
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.9 SKIV2L TTC37

GO Terms for Trichohepatoenteric Syndrome 1

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

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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