MCID: TRC086
MIFTS: 54

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 57 41 75 29 13 6
Trichohepatoenteric Syndrome 24 53 25 59 29 6 73
Tricho-Hepato-Enteric Syndrome 41 76 53 25 59 37
Syndromic Diarrhea 41 53 25 59 75
Sd/the 53 25 59
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 57 25
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 53 59
Intractable Diarrhea with Phenotypic Anomalies 25 75
Phenotypic Diarrhea of Infancy 25 75
Diarrhea, Syndromic 57 25
Phenotypic Diarrhea 53 59
Thes1 57 75
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 75
Syndrome, Trichohepatoenteric, Type 1 40
Syndromatic Diarrhea 53
Thes 25

Characteristics:

Orphanet epidemiological data:

59
syndromic diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
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 : 53 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).

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 infantile diarrhea and thin, sparse hair. 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 Zinc and Ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and brain, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 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 : 75 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.

Wikipedia : 76 Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely... more...

GeneReviews:

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 322)
# Related Disease Score Top Affiliating Genes
1 diarrhea 28.5 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 12.0
6 primary angiitis of the central nervous system 11.9
7 transient bullous dermolysis of the newborn 11.9
8 ossification of the posterior longitudinal ligament of spine 11.9
9 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 11.9
10 arteriovenous malformations of the brain 11.9
11 maturity-onset diabetes of the young 11.9
12 maturity-onset diabetes of the young, type 9 11.9
13 maturity-onset diabetes of the young, type 2 11.9
14 transposition of the great arteries 11.9
15 maturity-onset diabetes of the young, type 3 11.9
16 maturity-onset diabetes of the young, type 1 11.9
17 small cell carcinoma of the bladder 11.9
18 mononeuropathy of the median nerve, mild 11.9
19 hypertrophy of the breast, juvenile 11.9
20 granulosa cell tumor of the ovary 11.9
21 maturity-onset diabetes of the young, type 10 11.9
22 osteonecrosis of the jaw 11.9
23 dextro-looped transposition of the great arteries 11.8
24 maturity-onset diabetes of the young, type 13 11.8
25 preterm premature rupture of the membranes 11.8
26 familial avascular necrosis of the femoral head 11.8
27 adenosarcoma of the uterus 11.8
28 agenesis of the superior vena cava 11.8
29 small cell cancer of the lung 11.8
30 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.8
31 developmental dysplasia of the hip 1 11.8
32 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.8
33 macrodactyly of the hand 11.8
34 littoral cell angioma of the spleen 11.8
35 maturity-onset diabetes of the young, type 6 11.8
36 maturity-onset diabetes of the young, type 7 11.8
37 glassy cell carcinoma of the cervix 11.8
38 condensing osteitis of the clavicle 11.8
39 ectasia of the left atrial appendage 11.8
40 superficial siderosis of the central nervous system 11.8
41 maturity-onset diabetes of the young, type 4 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 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.8
46 grouped pigmentation of the retina 11.8
47 maturity-onset diabetes of the young, type 11 11.8
48 dextro-looped transposition of the great arteries 3 11.8
49 maturity-onset diabetes of the young, type 14 11.7
50 congenital pseudoarthrosis of the tibia 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:

57
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

Prenatal Manifestations Placenta And Umbilical Cord:
large placenta

Abdomen Gastrointestinal:
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 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

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

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:

32 (show all 49)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 failure to thrive 32 HP:0001508
5 hepatomegaly 32 HP:0002240
6 microtia 32 HP:0008551
7 anteverted nares 32 HP:0000463
8 short stature 32 HP:0004322
9 cognitive impairment 32 HP:0100543
10 prominent forehead 32 HP:0011220
11 long philtrum 32 HP:0000343
12 intrauterine growth retardation 32 HP:0001511
13 hepatic fibrosis 32 HP:0001395
14 cirrhosis 32 HP:0001394
15 abnormality of iron homeostasis 32 HP:0011031
16 jaundice 32 HP:0000952
17 wide mouth 32 HP:0000154
18 depressed nasal ridge 32 HP:0000457
19 abnormality of the pancreas 32 HP:0001732
20 downslanted palpebral fissures 32 HP:0000494
21 abnormality of the immune system 32 HP:0002715
22 narrow mouth 32 HP:0000160
23 polyhydramnios 32 HP:0001561
24 tetralogy of fallot 32 occasional (7.5%) HP:0001636
25 ventricular septal defect 32 occasional (7.5%) HP:0001629
26 thrombocytosis 32 occasional (7.5%) HP:0001894
27 fine hair 32 HP:0002213
28 pulmonic stenosis 32 occasional (7.5%) HP:0001642
29 curly hair 32 HP:0002212
30 hepatic failure 32 HP:0001399
31 proptosis 32 HP:0000520
32 wide nose 32 HP:0000445
33 woolly hair 32 HP:0002224
34 sparse hair 32 HP:0008070
35 large placenta 32 HP:0006267
36 bifid uvula 32 HP:0000193
37 underdeveloped supraorbital ridges 32 HP:0009891
38 trichorrhexis nodosa 32 HP:0009886
39 aortic regurgitation 32 occasional (7.5%) HP:0001659
40 hypoalbuminemia 32 HP:0003073
41 small for gestational age 32 HP:0001518
42 brittle hair 32 HP:0002299
43 villous atrophy 32 HP:0011473
44 galactosuria 32 HP:0012023
45 renal cortical microcysts 32 HP:0004734
46 hypermethioninemia 32 HP:0003235
47 increased mean platelet volume 32 occasional (7.5%) HP:0011877
48 abnormalities of placenta or umbilical cord 32 HP:0001194
49 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 1078)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 7440-66-6 23994
2
Ticlopidine Approved Phase 4,Phase 3,Not Applicable 55142-85-3 5472
3
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
4
Clopidogrel Approved Phase 4,Phase 2,Phase 3,Phase 1 120202-66-6, 113665-84-2 60606
5
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
6
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Not Applicable 9004-61-9 53477741
7
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
8
Menthol Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2216-51-5 16666
9
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
10
Sevoflurane Approved, Vet_approved Phase 4,Phase 1,Not Applicable 28523-86-6 5206
11
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
12
Sevelamer Approved Phase 4 52757-95-6
13
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
14
Clarithromycin Approved Phase 4,Phase 3,Not Applicable 81103-11-9 84029
15
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
16
Budesonide Approved Phase 4,Phase 3,Not Applicable 51333-22-3 63006 5281004
17
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Not Applicable 15307-86-5 3033
18
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
19
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
20
Atropine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 5908-99-6, 51-55-8 174174
21
Primaquine Approved Phase 4 90-34-6 4908
22
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
23
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
24
Etanercept Approved, Investigational Phase 4,Phase 2,Phase 1 185243-69-0
25
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
26
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 50-24-8 5755
27 sodium fluoride Approved Phase 4 7681-49-4
28
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 61825-94-3 5310940 9887054 43805 6857599
29
Acetaminophen Approved Phase 4,Phase 1,Phase 2,Not Applicable 103-90-2 1983
30
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
31
Amoxicillin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 26787-78-0 33613
32
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 33069-62-4 36314
33
Bortezomib Approved, Investigational Phase 4,Phase 3,Phase 2 179324-69-7 387447 93860
34
Vancomycin Approved Phase 4,Phase 3 1404-90-6 441141 14969
35
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
36
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
37
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
38
Misoprostol Approved Phase 4,Phase 3,Phase 2 59122-46-2 5282381
39
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-43-4 5816
40
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 83-43-2 6741
41
Ticagrelor Approved Phase 4,Not Applicable 274693-27-5 9871419
42
Dihydroartemisinin Approved, Investigational Phase 4 71939-50-9 6918483
43
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
44
Piperaquine Approved, Investigational Phase 4 4085-31-8 5079497
45
Lumefantrine Approved Phase 4 82186-77-4 6437380
46
Artemether Approved Phase 4 71963-77-4 119380 68911
47
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 53-03-2 5865
48
Fluticasone Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3 90566-53-3 62924
49
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 329-65-7 838
50
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676

Interventional clinical trials:

(show top 50) (show all 1985)
# 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 Treatment With a Scheme With Low Doses of Bortezomib / Melphalan / Prednisone (MPV) in Patients With Multiple Myeloma Unknown status NCT02773550 Phase 4 Bortezomib;Melphalan;Prednisone
12 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
13 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Unknown status NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
14 Prevention of Neutropenia After Using G-CSF With TAC Chemotherapy Unknown status NCT01571518 Phase 4 late leukostim;early leukostim
15 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
16 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
17 Prehypertension and Dietary Supplements - The PYRAMIDS Study Unknown status NCT01682291 Phase 4
18 Effects of Preconditioning With Sevoflurane During Organ Procurement From Brain Dead Donors: Impact on Early Function of Liver Allografts Unknown status NCT02341833 Phase 4 Sevoflurane
19 OPTIMOX1 in Chinese mCRC Patients Unknown status NCT01023633 Phase 4 Oxaliplatin, LV, 5-FU
20 Vancomycin Prophylaxis in Recurrent Clostridium Difficile Infection Unknown status NCT02237859 Phase 4 Vancomycin
21 Closed Loop Stimulation for Neuromediated Syncope (SPAIN Study) Unknown status NCT01621464 Phase 4
22 Effect of Adductor-Canal-Blockade on High Pain Responders After Total Knee Arthroplasty Completed NCT01549704 Phase 4 Ropivacaine;Saline
23 Early Assessment of the Response to Neo-adjuvant Chemotherapy in Breast Cancer Patients With FDG-PET Completed NCT00904410 Phase 4
24 Evaluation of Antibody Persistence Following 4 MenACWY Vaccinations Completed NCT02446691 Phase 4
25 Persistence of Hepatitis B Antibody Levels & Immune Response to a Hepatitis B Vaccine Challenge Completed NCT00411697 Phase 4
26 Remifentanil on Hemodynamic Response to Anesthesia Induction Completed NCT02763098 Phase 4 Remi 0.1;Remi 0.2;Remi 0.3
27 Impact of Liraglutide on Endothelial Function and Microvascular Blood Flow in Type 2 Diabetes Mellitus Completed NCT01208012 Phase 4 Victoza®
28 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
29 Sodium-Restricted Diet and Diuretic in the Treatment of Severe Sleep Apnea Completed NCT01945801 Phase 4 Lasilactone;Placebo
30 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
31 Effect of Nervus Cutaneous Femoris Lateralis-Blockade on Moderate Pain Responders After Total Hip Arthroplasty Completed NCT02344264 Phase 4 Ropivacaine;Saline
32 Changes of GCF Levels of RANKL and Osteoprotegerin in Postmenopausal Osteoporosis Completed NCT02808988 Phase 4
33 Clinical Use of an Absorbable Coated Suture Material in Surgery (Safil) Completed NCT00645684 Phase 4
34 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
35 Use of Fissure Sealants on Primary Molars Completed NCT01438866 Phase 4
36 Compare the Efficacy of Different Antiplatelet Therapy Strategy After Coronary Artery Bypass Graft Surgery Completed NCT02201771 Phase 4 Aspirin;Ticagrelor
37 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
38 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
39 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4 Terbutaline Infusion
40 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women Completed NCT01628705 Phase 4
41 Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study Completed NCT01951404 Phase 4 Allopurinol;Placebo (for allopurinol)
42 Growing Future Physician Leaders: A Randomized Trial of an Educational Intervention in Postgraduate Trainees Completed NCT00286975 Phase 4
43 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4 Sodium Oxybate
44 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
45 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
46 Overall Performance of a 1-day Silicone Hydrogel Lens When Habitual Soft Lens Wearers Are Refit Completed NCT02588573 Phase 4
47 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
48 Effectiveness of Podiatry on Plantar Pain Completed NCT00888394 Phase 4
49 Per-cutaneous Intervention Based Paclitaxel and Sirolimus-Eluting Versus Bare Stents for the Treatment of de Novo Coronary Lesions (PAINT) Completed NCT00752362 Phase 4
50 Intralipid for Recurrent Miscarriage Completed NCT01788540 Phase 4 Intralipid

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 29 TTC37
2 Trichohepatoenteric Syndrome 29

Anatomical Context for Trichohepatoenteric Syndrome 1

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 1:

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

Publications for Trichohepatoenteric Syndrome 1

Articles related to Trichohepatoenteric Syndrome 1:

# Title Authors Year
1
Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran. ( 26881168 )
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
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. ( 27050310 )
2016
4
Trichohepatoenteric syndrome: founder mutation in asian indians. ( 23326254 )
2012
5
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. ( 22444670 )
2012
6
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). ( 20176027 )
2010
7
Trichohepatoenteric Syndrome ( 29334452 )
1993

Variations for Trichohepatoenteric Syndrome 1

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

75
# 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
(show top 50) (show all 135)
# 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 GRCh37 Chromosome 5, 94859358: 94859358
3 TTC37 NM_014639.3(TTC37): c.1632+1delG deletion Pathogenic rs1060499527 GRCh38 Chromosome 5, 95523654: 95523654
4 TTC37 NM_014639.3(TTC37): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs387907147 GRCh37 Chromosome 5, 94876498: 94876498
5 TTC37 NM_014639.3(TTC37): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs387907147 GRCh38 Chromosome 5, 95540794: 95540794
6 TTC37 NM_014639.3(TTC37): c.2251C> T (p.Gln751Ter) single nucleotide variant Pathogenic rs387907148 GRCh37 Chromosome 5, 94852890: 94852890
7 TTC37 NM_014639.3(TTC37): c.2251C> T (p.Gln751Ter) single nucleotide variant Pathogenic rs387907148 GRCh38 Chromosome 5, 95517186: 95517186
8 TTC37 NM_014639.3(TTC37): c.2515+1G> C single nucleotide variant Pathogenic rs1060499528 GRCh37 Chromosome 5, 94852375: 94852375
9 TTC37 NM_014639.3(TTC37): c.2515+1G> C single nucleotide variant Pathogenic rs1060499528 GRCh38 Chromosome 5, 95516671: 95516671
10 TTC37 NG_023414.1: g.43590_43594delTTTTT deletion Pathogenic rs746874042 GRCh38 Chromosome 5, 95516412: 95516416
11 TTC37 NG_023414.1: g.43590_43594delTTTTT deletion Pathogenic rs746874042 GRCh37 Chromosome 5, 94852116: 94852120
12 TTC37 NM_014639.3(TTC37): c.4620+1G> C single nucleotide variant Pathogenic rs370373017 GRCh37 Chromosome 5, 94803569: 94803569
13 TTC37 NM_014639.3(TTC37): c.4620+1G> C single nucleotide variant Pathogenic rs370373017 GRCh38 Chromosome 5, 95467865: 95467865
14 TTC37 NM_014639.3(TTC37): c.2808G> A (p.Trp936Ter) single nucleotide variant Pathogenic rs534237033 GRCh37 Chromosome 5, 94848293: 94848293
15 TTC37 NM_014639.3(TTC37): c.2808G> A (p.Trp936Ter) single nucleotide variant Pathogenic rs534237033 GRCh38 Chromosome 5, 95512589: 95512589
16 SKIV2L NM_006929.4(SKIV2L): c.-273G> A single nucleotide variant Uncertain significance rs886061298 GRCh38 Chromosome 6, 31958920: 31958920
17 SKIV2L NM_006929.4(SKIV2L): c.-273G> A single nucleotide variant Uncertain significance rs886061298 GRCh37 Chromosome 6, 31926697: 31926697
18 SKIV2L NM_006929.4(SKIV2L): c.120G> A (p.Glu40=) single nucleotide variant Uncertain significance rs886061305 GRCh38 Chromosome 6, 31959394: 31959394
19 SKIV2L NM_006929.4(SKIV2L): c.120G> A (p.Glu40=) single nucleotide variant Uncertain significance rs886061305 GRCh37 Chromosome 6, 31927171: 31927171
20 SKIV2L NM_006929.4(SKIV2L): c.254C> T (p.Thr85Met) single nucleotide variant Uncertain significance rs146717555 GRCh38 Chromosome 6, 31960237: 31960237
21 SKIV2L NM_006929.4(SKIV2L): c.254C> T (p.Thr85Met) single nucleotide variant Uncertain significance rs146717555 GRCh37 Chromosome 6, 31928014: 31928014
22 SKIV2L NM_006929.4(SKIV2L): c.585C> T (p.Asp195=) single nucleotide variant Uncertain significance rs145042380 GRCh37 Chromosome 6, 31928858: 31928858
23 SKIV2L NM_006929.4(SKIV2L): c.585C> T (p.Asp195=) single nucleotide variant Uncertain significance rs145042380 GRCh38 Chromosome 6, 31961081: 31961081
24 SKIV2L NM_006929.4(SKIV2L): c.2211G> A (p.Pro737=) single nucleotide variant Likely benign rs2280773 GRCh37 Chromosome 6, 31934494: 31934494
25 SKIV2L NM_006929.4(SKIV2L): c.2211G> A (p.Pro737=) single nucleotide variant Likely benign rs2280773 GRCh38 Chromosome 6, 31966717: 31966717
26 SKIV2L NM_006929.4(SKIV2L): c.2446G> A (p.Glu816Lys) single nucleotide variant Uncertain significance rs746407907 GRCh37 Chromosome 6, 31934886: 31934886
27 SKIV2L NM_006929.4(SKIV2L): c.2446G> A (p.Glu816Lys) single nucleotide variant Uncertain significance rs746407907 GRCh38 Chromosome 6, 31967109: 31967109
28 SKIV2L NM_006929.4(SKIV2L): c.2659G> A (p.Asp887Asn) single nucleotide variant Likely benign rs3911893 GRCh37 Chromosome 6, 31935567: 31935567
29 SKIV2L NM_006929.4(SKIV2L): c.2659G> A (p.Asp887Asn) single nucleotide variant Likely benign rs3911893 GRCh38 Chromosome 6, 31967790: 31967790
30 SKIV2L NM_006929.4(SKIV2L): c.2703C> T (p.Leu901=) single nucleotide variant Uncertain significance rs748012447 GRCh37 Chromosome 6, 31935611: 31935611
31 SKIV2L NM_006929.4(SKIV2L): c.2703C> T (p.Leu901=) single nucleotide variant Uncertain significance rs748012447 GRCh38 Chromosome 6, 31967834: 31967834
32 SKIV2L NM_006929.4(SKIV2L): c.3212C> T (p.Ala1071Val) single nucleotide variant Benign rs449643 GRCh38 Chromosome 6, 31968902: 31968902
33 SKIV2L NM_006929.4(SKIV2L): c.3212C> T (p.Ala1071Val) single nucleotide variant Benign rs449643 GRCh37 Chromosome 6, 31936679: 31936679
34 SKIV2L NM_006929.4(SKIV2L): c.3310C> T (p.Arg1104Trp) single nucleotide variant Uncertain significance rs780107431 GRCh38 Chromosome 6, 31969000: 31969000
35 SKIV2L NM_006929.4(SKIV2L): c.3310C> T (p.Arg1104Trp) single nucleotide variant Uncertain significance rs780107431 GRCh37 Chromosome 6, 31936777: 31936777
36 SKIV2L NM_006929.4(SKIV2L): c.3409C> T (p.Arg1137Cys) single nucleotide variant Uncertain significance rs553733225 GRCh38 Chromosome 6, 31969289: 31969289
37 SKIV2L NM_006929.4(SKIV2L): c.3409C> T (p.Arg1137Cys) single nucleotide variant Uncertain significance rs553733225 GRCh37 Chromosome 6, 31937066: 31937066
38 SKIV2L NM_006929.4(SKIV2L): c.3540+7A> G single nucleotide variant Uncertain significance rs767834988 GRCh38 Chromosome 6, 31969427: 31969427
39 SKIV2L NM_006929.4(SKIV2L): c.3540+7A> G single nucleotide variant Uncertain significance rs767834988 GRCh37 Chromosome 6, 31937204: 31937204
40 SKIV2L NM_006929.4(SKIV2L): c.*19T> C single nucleotide variant Likely benign rs2075702 GRCh38 Chromosome 6, 31969734: 31969734
41 SKIV2L NM_006929.4(SKIV2L): c.*19T> C single nucleotide variant Likely benign rs2075702 GRCh37 Chromosome 6, 31937511: 31937511
42 SKIV2L NM_006929.4(SKIV2L): c.-280G> T single nucleotide variant Uncertain significance rs182142262 GRCh37 Chromosome 6, 31926690: 31926690
43 SKIV2L NM_006929.4(SKIV2L): c.-280G> T single nucleotide variant Uncertain significance rs182142262 GRCh38 Chromosome 6, 31958913: 31958913
44 SKIV2L NM_006929.4(SKIV2L): c.-193A> C single nucleotide variant Uncertain significance rs886061302 GRCh38 Chromosome 6, 31959000: 31959000
45 SKIV2L NM_006929.4(SKIV2L): c.-193A> C single nucleotide variant Uncertain significance rs886061302 GRCh37 Chromosome 6, 31926777: 31926777
46 SKIV2L NM_006929.4(SKIV2L): c.-14G> A single nucleotide variant Uncertain significance rs886061304 GRCh38 Chromosome 6, 31959179: 31959179
47 SKIV2L NM_006929.4(SKIV2L): c.-14G> A single nucleotide variant Uncertain significance rs886061304 GRCh37 Chromosome 6, 31926956: 31926956
48 SKIV2L NM_006929.4(SKIV2L): c.384T> C (p.Ala128=) single nucleotide variant Uncertain significance rs3895064 GRCh38 Chromosome 6, 31960461: 31960461
49 SKIV2L NM_006929.4(SKIV2L): c.384T> C (p.Ala128=) single nucleotide variant Uncertain significance rs3895064 GRCh37 Chromosome 6, 31928238: 31928238
50 SKIV2L NM_006929.4(SKIV2L): c.791A> T (p.Glu264Val) single nucleotide variant Uncertain significance rs200318261 GRCh37 Chromosome 6, 31929325: 31929325

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
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