THES1
MCID: TRC086
MIFTS: 60

Trichohepatoenteric Syndrome 1 (THES1)

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

Aliases & Classifications for Trichohepatoenteric Syndrome 1

MalaCards integrated aliases for Trichohepatoenteric Syndrome 1:

Name: Trichohepatoenteric Syndrome 1 58 42 76 30 13 6
Trichohepatoenteric Syndrome 25 54 26 60 30 6 74
Tricho-Hepato-Enteric Syndrome 42 77 54 26 60 38
Syndromic Diarrhea 42 54 26 60 76
Sd/the 54 26 60
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 58 26
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 54 60
Intractable Diarrhea with Phenotypic Anomalies 26 76
Phenotypic Diarrhea of Infancy 26 76
Diarrhea, Syndromic 58 26
Phenotypic Diarrhea 54 60
Thes1 58 76
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 76
Syndrome, Trichohepatoenteric, Type 1 41
Syndromatic Diarrhea 54
Thes 26

Characteristics:

Orphanet epidemiological data:

60
syndromic diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
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:

33
trichohepatoenteric syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 1

NIH Rare Diseases : 54 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 2, with microvillus atrophy and diarrhea, and has symptoms including thin, sparse hair and infantile 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 Dopamine and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related phenotypes are tetralogy of fallot and ventricular septal defect

Genetics Home Reference : 26 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 : 58 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 : 76 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.

Wikipedia : 77 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 15262)
# Related Disease Score Top Affiliating Genes
1 diarrhea 2, with microvillus atrophy 30.9 SKIV2L TTC37
2 diarrhea 29.9 SKIV2L TTC37
3 sudden infant death with dysgenesis of the testes syndrome 12.2
4 agenesis of the corpus callosum with peripheral neuropathy 12.2
5 congenitally corrected transposition of the great arteries 12.2
6 transposition of the great arteries, dextro-looped 1 12.1
7 ossification of the posterior longitudinal ligament of spine 12.1
8 primary angiitis of the central nervous system 12.1
9 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 12.1
10 transient bullous dermolysis of the newborn 12.1
11 arteriovenous malformations of the brain 12.1
12 maturity-onset diabetes of the young 12.1
13 maturity-onset diabetes of the young, type 6 12.1
14 maturity-onset diabetes of the young, type 9 12.1
15 maturity-onset diabetes of the young, type 2 12.1
16 maturity-onset diabetes of the young, type 1 12.1
17 maturity-onset diabetes of the young, type 3 12.1
18 transposition of the great arteries 12.1
19 mononeuropathy of the median nerve, mild 12.1
20 maturity-onset diabetes of the young, type 4 12.1
21 maturity-onset diabetes of the young, type 10 12.1
22 hypertrophy of the breast, juvenile 12.1
23 small cell carcinoma of the bladder 12.1
24 osteonecrosis of the jaw 12.1
25 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.1
26 maturity-onset diabetes of the young, type 13 12.1
27 maturity-onset diabetes of the young, type 11 12.1
28 granulosa cell tumor of the ovary 12.1
29 dextro-looped transposition of the great arteries 12.0
30 developmental dysplasia of the hip 1 12.0
31 preterm premature rupture of the membranes 12.0
32 multiple fibroadenomas of the breast 12.0
33 small cell cancer of the lung 12.0
34 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.0
35 familial avascular necrosis of the femoral head 12.0
36 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.0
37 agenesis of the superior vena cava 12.0
38 primary melanoma of the central nervous system 12.0
39 adenosarcoma of the uterus 12.0
40 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.0
41 maturity-onset diabetes of the young, type 7 12.0
42 papillary tumor of the pineal region 12.0
43 macrodactyly of the hand 12.0
44 rokitansky-aschoff sinuses of the gallbladder 12.0
45 condensing osteitis of the clavicle 12.0
46 glassy cell carcinoma of the cervix 12.0
47 littoral cell angioma of the spleen 12.0
48 ectasia of the left atrial appendage 12.0
49 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.0
50 choriocarcinoma of the testis 12.0

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



Diseases related to Trichohepatoenteric Syndrome 1

Symptoms & Phenotypes for Trichohepatoenteric Syndrome 1

Human phenotypes related to Trichohepatoenteric Syndrome 1:

33 (show all 50)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 33 occasional (7.5%) HP:0001636
2 ventricular septal defect 33 occasional (7.5%) HP:0001629
3 thrombocytosis 33 occasional (7.5%) HP:0001894
4 pulmonic stenosis 33 occasional (7.5%) HP:0001642
5 aortic regurgitation 33 occasional (7.5%) HP:0001659
6 increased mean platelet volume 33 occasional (7.5%) HP:0011877
7 hypertelorism 33 HP:0000316
8 low-set ears 33 HP:0000369
9 frontal bossing 33 HP:0002007
10 failure to thrive 33 HP:0001508
11 hepatomegaly 33 HP:0002240
12 microtia 33 HP:0008551
13 anteverted nares 33 HP:0000463
14 short stature 33 HP:0004322
15 cognitive impairment 33 HP:0100543
16 prominent forehead 33 HP:0011220
17 long philtrum 33 HP:0000343
18 intrauterine growth retardation 33 HP:0001511
19 hepatic fibrosis 33 HP:0001395
20 cirrhosis 33 HP:0001394
21 abnormality of iron homeostasis 33 HP:0011031
22 jaundice 33 HP:0000952
23 wide mouth 33 HP:0000154
24 depressed nasal ridge 33 HP:0000457
25 abnormality of the pancreas 33 HP:0001732
26 downslanted palpebral fissures 33 HP:0000494
27 abnormality of the immune system 33 HP:0002715
28 hepatic failure 33 HP:0001399
29 narrow mouth 33 HP:0000160
30 polyhydramnios 33 HP:0001561
31 fine hair 33 HP:0002213
32 curly hair 33 HP:0002212
33 proptosis 33 HP:0000520
34 wide nose 33 HP:0000445
35 woolly hair 33 HP:0002224
36 sparse hair 33 HP:0008070
37 large placenta 33 HP:0006267
38 bifid uvula 33 HP:0000193
39 underdeveloped supraorbital ridges 33 HP:0009891
40 trichorrhexis nodosa 33 HP:0009886
41 increased serum iron 33 HP:0003452
42 hypoalbuminemia 33 HP:0003073
43 small for gestational age 33 HP:0001518
44 brittle hair 33 HP:0002299
45 villous atrophy 33 HP:0011473
46 hypermethioninemia 33 HP:0003235
47 galactosuria 33 HP:0012023
48 renal cortical microcysts 33 HP:0004734
49 abnormalities of placenta or umbilical cord 33 HP:0001194
50 intractable diarrhea 33 HP:0002041

Symptoms via clinical synopsis from OMIM:

58
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

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 1183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
2
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 302-25-0
6
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
7
Methimazole Approved Phase 4 60-56-0 1349907
8
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 2767 441203 84093
9
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
10
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
11
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 6473866 445643 439492
12
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
13
Ticagrelor Approved Phase 4,Not Applicable 274693-27-5 9871419
14
Sevelamer Approved Phase 4 52757-95-6
15
Lumefantrine Approved Phase 4 82186-77-4 6437380
16
Artemether Approved Phase 4 71963-77-4 68911 119380
17
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 148-82-3 460612 4053
18
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
19
Bortezomib Approved, Investigational Phase 4,Phase 3,Phase 2 179324-69-7 387447 93860
20
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
21
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 124-94-7 31307
22
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
23
Sevoflurane Approved, Vet_approved Phase 4,Phase 1,Not Applicable 28523-86-6 5206
24
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 58-05-9 143 6006
25
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 61825-94-3 43805 6857599 5310940 9887054
26
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-21-8 3385
27
Vancomycin Approved Phase 4,Phase 3,Phase 1,Phase 2 1404-90-6 14969 441141
28
Tegafur Approved, Investigational Phase 4,Phase 1 17902-23-7 5386
29
Atropine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 5908-99-6, 51-55-8 174174
30 sodium fluoride Approved Phase 4 7681-49-4
31
Everolimus Approved Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 159351-69-6 70789204 6442177
32
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 53123-88-9 46835353 5284616 6436030
33
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33069-62-4 36314
34
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
35
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
36
Acetaminophen Approved Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
37
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 1,Phase 2 76-42-6 5284603
38
Budesonide Approved Phase 4,Phase 3,Not Applicable 51333-22-3 5281004 63006
39
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 53477758 439302
40
Misoprostol Approved Phase 4,Phase 3,Phase 2 59122-46-2 5282381
41
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 68-04-2
42
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
43
Zinc Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 7440-66-6 32051
44
Insulin Lispro Approved Phase 4,Phase 2,Phase 3 133107-64-9
45
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 38396-39-3, 2180-92-9 2474
46
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1 51-45-6 774
47
Amoxicillin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 26787-78-0 33613
48
Clarithromycin Approved Phase 4,Phase 3,Not Applicable 81103-11-9 84029
49
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 9004-61-9 53477741
50
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 2291)
# Name Status NCT ID Phase Drugs
1 The Effect of a Community-based LAI-treated Management Model on the Violence Risk of Patients With Schizophrenia Unknown status NCT03080194 Phase 4 paliperidone palmitate;control group
2 Prednisolone Priming Study in Patients With Chronic Hepatitis B Unknown status NCT00778596 Phase 4 Prednisolone;Placebo priming
3 Cardiopulmonary Capacity in Elderly With Different Ranges of Serum Thyroid Stimulating Hormone Unknown status NCT01849861 Phase 4 Methimazole
4 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
5 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4 MMF;EC-MPS
6 Once-a-day Tacrolimus Conversion Study: The OneTAC Trial Unknown status NCT02545972 Phase 4 tacrolimus extended release
7 The Effect of Phrenic Nerve Block on Postoperative Shoulder Pain in Patients for Liver Resection. Unknown status NCT02903719 Phase 4 Ropivacaine
8 Effects of ACTHAR on Advanced MRI Surrogate Markers of Disease Activity and on Comprehensive Immune Signature During MS Relapses Unknown status NCT03021317 Phase 4 ACTHar
9 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4 ticagrelor
10 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
11 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
12 Sternal Closure With Biologic Bone Cement in Patients Undergoing Coronary Artery Bypass Grafting (CABG) Unknown status NCT01261858 Phase 4
13 Desmopressin Melt Therapy in Nocturnal Polyuria Patients: Pharmacodynamic Study Unknown status NCT01439997 Phase 4 Desmopressin
14 Improving Anti-malarial Treatment Options in Guinea-Bissau - Part A Unknown status NCT01704508 Phase 4 Artemether-lumefantrine;Dihydroartemisinin-piperaquine
15 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
16 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
17 Prevention of Neutropenia After Using G-CSF With TAC Chemotherapy Unknown status NCT01571518 Phase 4 late leukostim;early leukostim
18 Rate of Bronchopulmonary Dysplasia in Preterms Neonates: a Trial Comparing SMOFlipid and Medialipide Unknown status NCT02853253 Phase 4
19 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
20 Prehypertension and Dietary Supplements - The PYRAMIDS Study Unknown status NCT01682291 Phase 4
21 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
22 OPTIMOX1 in Chinese mCRC Patients Unknown status NCT01023633 Phase 4 Oxaliplatin, LV, 5-FU
23 Vancomycin Prophylaxis in Recurrent Clostridium Difficile Infection Unknown status NCT02237859 Phase 4 Vancomycin
24 A Phase II Study of Tegafur-Uracil as Maintenance Chemotherapy in Patients With Stage II of Colon Cancer Unknown status NCT02887365 Phase 4 tegafur-uracil
25 Closed Loop Stimulation for Neuromediated Syncope (SPAIN Study) Unknown status NCT01621464 Phase 4
26 Effect of Adductor-Canal-Blockade on High Pain Responders After Total Knee Arthroplasty Completed NCT01549704 Phase 4 Ropivacaine;Saline
27 Early Assessment of the Response to Neo-adjuvant Chemotherapy in Breast Cancer Patients With FDG-PET Completed NCT00904410 Phase 4
28 Evaluation of Antibody Persistence Following 4 MenACWY Vaccinations Completed NCT02446691 Phase 4
29 Persistence of Hepatitis B Antibody Levels & Immune Response to a Hepatitis B Vaccine Challenge Completed NCT00411697 Phase 4
30 Remifentanil on Hemodynamic Response to Anesthesia Induction Completed NCT02763098 Phase 4 Remi 0.1;Remi 0.2;Remi 0.3
31 Impact of Liraglutide on Endothelial Function and Microvascular Blood Flow in Type 2 Diabetes Mellitus Completed NCT01208012 Phase 4 Victoza®
32 Evaluation of the Effects of Different Analgesics on Pericoronitis Pain and Quality of Life Completed NCT03745599 Phase 4 Diclofenac;Flurbiprofen;Benzydamine
33 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
34 Sodium-Restricted Diet and Diuretic in the Treatment of Severe Sleep Apnea Completed NCT01945801 Phase 4 Lasilactone;Placebo
35 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
36 Effect of Nervus Cutaneous Femoris Lateralis-Blockade on Moderate Pain Responders After Total Hip Arthroplasty Completed NCT02344264 Phase 4 Ropivacaine;Saline
37 Changes of GCF Levels of RANKL and Osteoprotegerin in Postmenopausal Osteoporosis Completed NCT02808988 Phase 4
38 Clinical Use of an Absorbable Coated Suture Material in Surgery (Safil) Completed NCT00645684 Phase 4
39 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
40 Use of Fissure Sealants on Primary Molars Completed NCT01438866 Phase 4
41 Compare the Efficacy of Different Antiplatelet Therapy Strategy After Coronary Artery Bypass Graft Surgery Completed NCT02201771 Phase 4 Aspirin;Ticagrelor
42 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
43 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
44 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4 Terbutaline Infusion
45 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women Completed NCT01628705 Phase 4
46 Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study Completed NCT01951404 Phase 4 Allopurinol;Placebo (for allopurinol)
47 Growing Future Physician Leaders: A Randomized Trial of an Educational Intervention in Postgraduate Trainees Completed NCT00286975 Phase 4
48 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4 Sodium Oxybate
49 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
50 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4

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 30 TTC37
2 Trichohepatoenteric Syndrome 30

Anatomical Context for Trichohepatoenteric Syndrome 1

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 1:

42
Brain, Kidney, Skin, Thyroid, T Cells, Pituitary, Myeloid

Publications for Trichohepatoenteric Syndrome 1

Articles related to Trichohepatoenteric Syndrome 1:

(show all 17)
# Title Authors Year
1
Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome. ( 30684736 )
2019
2
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea. ( 29127627 )
2018
3
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome. ( 29868001 )
2018
4
Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case. ( 30397475 )
2018
5
Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report. ( 29130476 )
2018
6
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome. ( 28027214 )
2017
7
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. ( 28292286 )
2017
8
Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran. ( 26881168 )
2016
9
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. ( 27050310 )
2016
10
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. ( 27431780 )
2016
11
Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. ( 25932458 )
2015
12
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. ( 25688341 )
2015
13
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. ( 25335910 )
2015
14
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. ( 22444670 )
2012
15
Trichohepatoenteric syndrome: founder mutation in asian indians. ( 23326254 )
2012
16
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. ( 21120949 )
2011
17
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:

76
# 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 145)
# 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.1632+1delG deletion Pathogenic rs1060499527 GRCh37 Chromosome 5, 94859358: 94859358
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 AGK NM_018238.4(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 GRCh37 Chromosome 7, 141313964: 141313964
17 AGK NM_018238.4(AGK): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs746709222 GRCh38 Chromosome 7, 141614164: 141614164
18 SKIV2L NM_006929.4(SKIV2L): c.2211G> A (p.Pro737=) single nucleotide variant Likely benign rs2280773 GRCh38 Chromosome 6, 31966717: 31966717
19 SKIV2L NM_006929.4(SKIV2L): c.-273G> A single nucleotide variant Uncertain significance rs886061298 GRCh38 Chromosome 6, 31958920: 31958920
20 SKIV2L NM_006929.4(SKIV2L): c.-273G> A single nucleotide variant Uncertain significance rs886061298 GRCh37 Chromosome 6, 31926697: 31926697
21 SKIV2L NM_006929.4(SKIV2L): c.120G> A (p.Glu40=) single nucleotide variant Uncertain significance rs886061305 GRCh38 Chromosome 6, 31959394: 31959394
22 SKIV2L NM_006929.4(SKIV2L): c.120G> A (p.Glu40=) single nucleotide variant Uncertain significance rs886061305 GRCh37 Chromosome 6, 31927171: 31927171
23 SKIV2L NM_006929.4(SKIV2L): c.254C> T (p.Thr85Met) single nucleotide variant Uncertain significance rs146717555 GRCh38 Chromosome 6, 31960237: 31960237
24 SKIV2L NM_006929.4(SKIV2L): c.254C> T (p.Thr85Met) single nucleotide variant Uncertain significance rs146717555 GRCh37 Chromosome 6, 31928014: 31928014
25 SKIV2L NM_006929.4(SKIV2L): c.585C> T (p.Asp195=) single nucleotide variant Uncertain significance rs145042380 GRCh38 Chromosome 6, 31961081: 31961081
26 SKIV2L NM_006929.4(SKIV2L): c.585C> T (p.Asp195=) single nucleotide variant Uncertain significance rs145042380 GRCh37 Chromosome 6, 31928858: 31928858
27 SKIV2L NM_006929.4(SKIV2L): c.2211G> A (p.Pro737=) single nucleotide variant Likely benign rs2280773 GRCh37 Chromosome 6, 31934494: 31934494
28 SKIV2L NM_006929.4(SKIV2L): c.2446G> A (p.Glu816Lys) single nucleotide variant Uncertain significance rs746407907 GRCh37 Chromosome 6, 31934886: 31934886
29 SKIV2L NM_006929.4(SKIV2L): c.2446G> A (p.Glu816Lys) single nucleotide variant Uncertain significance rs746407907 GRCh38 Chromosome 6, 31967109: 31967109
30 SKIV2L NM_006929.4(SKIV2L): c.2659G> A (p.Asp887Asn) single nucleotide variant Likely benign rs3911893 GRCh37 Chromosome 6, 31935567: 31935567
31 SKIV2L NM_006929.4(SKIV2L): c.2659G> A (p.Asp887Asn) single nucleotide variant Likely benign rs3911893 GRCh38 Chromosome 6, 31967790: 31967790
32 SKIV2L NM_006929.4(SKIV2L): c.2703C> T (p.Leu901=) single nucleotide variant Uncertain significance rs748012447 GRCh37 Chromosome 6, 31935611: 31935611
33 SKIV2L NM_006929.4(SKIV2L): c.2703C> T (p.Leu901=) single nucleotide variant Uncertain significance rs748012447 GRCh38 Chromosome 6, 31967834: 31967834
34 SKIV2L NM_006929.4(SKIV2L): c.3212C> T (p.Ala1071Val) single nucleotide variant Benign rs449643 GRCh38 Chromosome 6, 31968902: 31968902
35 SKIV2L NM_006929.4(SKIV2L): c.3212C> T (p.Ala1071Val) single nucleotide variant Benign rs449643 GRCh37 Chromosome 6, 31936679: 31936679
36 SKIV2L NM_006929.4(SKIV2L): c.3310C> T (p.Arg1104Trp) single nucleotide variant Uncertain significance rs780107431 GRCh38 Chromosome 6, 31969000: 31969000
37 SKIV2L NM_006929.4(SKIV2L): c.3310C> T (p.Arg1104Trp) single nucleotide variant Uncertain significance rs780107431 GRCh37 Chromosome 6, 31936777: 31936777
38 SKIV2L NM_006929.4(SKIV2L): c.3409C> T (p.Arg1137Cys) single nucleotide variant Uncertain significance rs553733225 GRCh38 Chromosome 6, 31969289: 31969289
39 SKIV2L NM_006929.4(SKIV2L): c.3409C> T (p.Arg1137Cys) single nucleotide variant Uncertain significance rs553733225 GRCh37 Chromosome 6, 31937066: 31937066
40 SKIV2L NM_006929.4(SKIV2L): c.3540+7A> G single nucleotide variant Uncertain significance rs767834988 GRCh38 Chromosome 6, 31969427: 31969427
41 SKIV2L NM_006929.4(SKIV2L): c.3540+7A> G single nucleotide variant Uncertain significance rs767834988 GRCh37 Chromosome 6, 31937204: 31937204
42 SKIV2L NM_006929.4(SKIV2L): c.*19T> C single nucleotide variant Likely benign rs2075702 GRCh38 Chromosome 6, 31969734: 31969734
43 SKIV2L NM_006929.4(SKIV2L): c.*19T> C single nucleotide variant Likely benign rs2075702 GRCh37 Chromosome 6, 31937511: 31937511
44 SKIV2L NM_006929.4(SKIV2L): c.-280G> T single nucleotide variant Uncertain significance rs182142262 GRCh38 Chromosome 6, 31958913: 31958913
45 SKIV2L NM_006929.4(SKIV2L): c.-280G> T single nucleotide variant Uncertain significance rs182142262 GRCh37 Chromosome 6, 31926690: 31926690
46 SKIV2L NM_006929.4(SKIV2L): c.-193A> C single nucleotide variant Uncertain significance rs886061302 GRCh38 Chromosome 6, 31959000: 31959000
47 SKIV2L NM_006929.4(SKIV2L): c.-193A> C single nucleotide variant Uncertain significance rs886061302 GRCh37 Chromosome 6, 31926777: 31926777
48 SKIV2L NM_006929.4(SKIV2L): c.-14G> A single nucleotide variant Uncertain significance rs886061304 GRCh38 Chromosome 6, 31959179: 31959179
49 SKIV2L NM_006929.4(SKIV2L): c.-14G> A single nucleotide variant Uncertain significance rs886061304 GRCh37 Chromosome 6, 31926956: 31926956
50 SKIV2L NM_006929.4(SKIV2L): c.384T> C (p.Ala128=) single nucleotide variant Uncertain significance rs3895064 GRCh38 Chromosome 6, 31960461: 31960461

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 8.96 SKIV2L TTC37
2 RNA catabolic process GO:0006401 8.62 SKIV2L TTC37

Sources for Trichohepatoenteric Syndrome 1

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