THES1
MCID: TRC086
MIFTS: 59

Trichohepatoenteric Syndrome 1 (THES1)

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

Aliases & Classifications for Trichohepatoenteric Syndrome 1

MalaCards integrated aliases for Trichohepatoenteric Syndrome 1:

Name: Trichohepatoenteric Syndrome 1 56 40 12 73 29 13 6
Trichohepatoenteric Syndrome 12 24 52 25 58 29 6 43 71
Tricho-Hepato-Enteric Syndrome 40 12 74 52 25 58 36
Syndromic Diarrhea 40 12 52 25 58 73
Sd/the 12 24 52 25 58
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 12 24 52 58
Phenotypic Diarrhea of Infancy 24 25 73
Phenotypic Diarrhea 12 52 58
Thes1 56 12 73
Thes 12 24 25
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 56 25
Intractable Diarrhea with Phenotypic Anomalies 25 73
Diarrhea, Syndromic 56 25
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 73
Syndrome, Trichohepatoenteric, Type 1 39
Syndromatic Diarrhea 52

Characteristics:

Orphanet epidemiological data:

58
syndromic diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
trichohepatoenteric syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


Summaries for Trichohepatoenteric Syndrome 1

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. Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa. Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as "coarse." Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition. Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.

MalaCards based summary : Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea 2, with microvillus atrophy, 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 Neostigmine and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and brain, and related phenotypes are abnormal facial shape and immunodeficiency

Disease Ontology : 12 A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has material basis in defects in components of the SKI complex.

NIH Rare Diseases : 52 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 TTC37 or 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 ).

OMIM : 56 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)

KEGG : 36 Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. Infants are born small for gestational age. Patients present with facial dysmorphism, immune disorders and, in some patients, early onset of severe liver cirrhosis. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin supplementation.

UniProtKB/Swiss-Prot : 73 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 : 74 Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely... more...

GeneReviews: NBK475802

Related Diseases for Trichohepatoenteric Syndrome 1

Diseases in the Trichohepatoenteric Syndrome 1 family:

Trichohepatoenteric Syndrome 2

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

(show top 50) (show all 17209)
# Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 31.0 TTC37 SKIV2L
2 diarrhea 2, with microvillus atrophy 30.7 TTC37 SKIV2L
3 diarrhea 30.5 TTC37 SKIV2L
4 congenital diarrhea 29.7 TTC37 SKIV2L
5 gastrointestinal defects and immunodeficiency syndrome 29.1 TTC37 SKIV2L
6 dextro-looped transposition of the great arteries 12.4
7 sudden infant death with dysgenesis of the testes syndrome 12.3
8 agenesis of the corpus callosum with peripheral neuropathy 12.3
9 congenitally corrected transposition of the great arteries 12.3
10 transposition of the great arteries, dextro-looped 1 12.2
11 ossification of the posterior longitudinal ligament of spine 12.2
12 transient bullous dermolysis of the newborn 12.2
13 primary angiitis of the central nervous system 12.2
14 maturity-onset diabetes of the young 12.2
15 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 12.2
16 arteriovenous malformations of the brain 12.2
17 maturity-onset diabetes of the young, type 2 12.2
18 maturity-onset diabetes of the young, type 1 12.2
19 maturity-onset diabetes of the young, type 3 12.2
20 maturity-onset diabetes of the young, type 6 12.2
21 maturity-onset diabetes of the young, type 7 12.2
22 maturity-onset diabetes of the young, type 9 12.2
23 partial deletion of the short arm of chromosome 3 12.2
24 familial avascular necrosis of the femoral head 12.2
25 maturity-onset diabetes of the young, type 4 12.2
26 small cell carcinoma of the bladder 12.2
27 maturity-onset diabetes of the young, type 10 12.1
28 maturity-onset diabetes of the young, type 11 12.1
29 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.1
30 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12.1
31 hypertrophy of the breast, juvenile 12.1
32 maturity-onset diabetes of the young, type 13 12.1
33 maturity-onset diabetes of the young, type 14 12.1
34 osteonecrosis of the jaw 12.1
35 granulosa cell tumor of the ovary 12.1
36 small cell cancer of the lung 12.1
37 mononeuropathy of the median nerve, mild 12.1
38 preterm premature rupture of the membranes 12.1
39 developmental dysplasia of the hip 1 12.1
40 jessner lymphocytic infiltration of the skin 12.1
41 multiple fibroadenomas of the breast 12.1
42 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.1
43 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.1
44 primary melanoma of the central nervous system 12.1
45 agenesis of the superior vena cava 12.1
46 adenosarcoma of the uterus 12.1
47 transient hyperammonemia of the newborn 12.1
48 developmental dysplasia of the hip 2 12.1
49 papillary tumor of the pineal region 12.1
50 rokitansky-aschoff sinuses of the gallbladder 12.1

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:

58 31 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 woolly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002224
4 intractable diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002041
5 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
11 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
12 prominent forehead 58 31 very rare (1%) Frequent (79-30%) HP:0011220
13 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
14 hepatic fibrosis 58 31 very rare (1%) Frequent (79-30%) HP:0001395
15 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
16 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
17 trichorrhexis nodosa 58 31 frequent (33%) Frequent (79-30%) HP:0009886
18 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
19 uncombable hair 58 31 frequent (33%) Frequent (79-30%) HP:0030056
20 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
21 panhypogammaglobulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003139
22 villous atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0011473
23 dependency on intravenous nutrition 58 31 frequent (33%) Frequent (79-30%) HP:0025156
24 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
25 ventricular septal defect 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001629
26 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
27 abnormality of iron homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011031
28 tetralogy of fallot 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001636
29 lymphopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001888
30 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
31 thrombocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001894
32 aortic regurgitation 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001659
33 increased mean platelet volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0011877
34 gastritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005263
35 colitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002583
36 pulmonic stenosis 31 occasional (7.5%) HP:0001642
37 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
38 splenomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001744
39 inguinal hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000023
40 patent ductus arteriosus 58 31 very rare (1%) Very rare (<4-1%) HP:0001643
41 atrial septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001631
42 bicuspid aortic valve 58 31 very rare (1%) Very rare (<4-1%) HP:0001647
43 peripheral pulmonary artery stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0004969
44 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
45 glaucoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000501
46 hypoplasia of the thymus 58 31 very rare (1%) Very rare (<4-1%) HP:0000778
47 renal hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000089
48 generalized hypopigmentation 58 31 very rare (1%) Very rare (<4-1%) HP:0007513
49 hepatoblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002884
50 bloody diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0025085

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent eyes

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

Prenatal Manifestations:
intrauterine growth retardation

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

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 Amniotic Fluid:
polyhydramnios

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 201)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
6
Carboplatin Approved Phase 4 41575-94-4 10339178 498142 38904
7
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
8 Anti-Asthmatic Agents Phase 4
9 Respiratory System Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Neuromuscular Agents Phase 4
12 Cholinergic Agents Phase 4
13 Anti-Arrhythmia Agents Phase 4
14 Adjuvants, Anesthesia Phase 4
15 Neuromuscular Nondepolarizing Agents Phase 4
16 Muscarinic Antagonists Phase 4
17 Cholinergic Antagonists Phase 4
18 Mydriatics Phase 4
19 Neuromuscular Blocking Agents Phase 4
20 Parasympatholytics Phase 4
21 Anticoagulants Phase 4
22 Neurotransmitter Agents Phase 4
23 Adrenergic Agents Phase 4
24 Adrenergic Agonists Phase 4
25 Hypnotics and Sedatives Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Central Nervous System Depressants Phase 4
29 Analgesics Phase 4
30 Anti-Bacterial Agents Phase 4
31 Albumin-Bound Paclitaxel Phase 4
32 Antimitotic Agents Phase 4
33 Antibiotics, Antitubercular Phase 4
34 Topoisomerase Inhibitors Phase 4
35
Liposomal doxorubicin Phase 4 31703
36
Fluticasone Approved, Experimental Phase 3 90566-53-3 62924
37
Ciclesonide Approved, Investigational Phase 3 126544-47-6, 141845-82-1 444033
38
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
39
Leuprolide Approved, Investigational Phase 2, Phase 3 53714-56-0 3911 657181
40
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
41
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
42
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
43
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
44 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
45
Melphalan Approved Phase 3 148-82-3 4053 460612
46
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
47
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
48
Telmisartan Approved, Investigational Phase 2, Phase 3 144701-48-4 65999
49
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
50
Acetaminophen Approved Phase 3 103-90-2 1983

Interventional clinical trials:

(show top 50) (show all 89)
# Name Status NCT ID Phase Drugs
1 Deep Neuromuscular Block and Sugammadex Versus Standard of Care on Quality of Recovery in Patient Undergo Elective Laparoscopic Cholecystectomy Unknown status NCT02648503 Phase 4 Deep neuromuscular block;Moderate neuromuscular block
2 Evaluation of CooperVision Avaira Toric (Enfilcon A) Soft Contact Lens (Test) When Compared to Acuvue Advance Toric (Galyfilcon A) Soft Contact Lens (Control) Completed NCT01706770 Phase 4
3 Phase IV Study on the Efficacy of PPSB-SD and VP-VI in Patients Using Oral Anticoagulant Therapy and Undergoing Acute Cardiac Surgery With a Cardiopulmonary Bypass Completed NCT00151853 Phase 4 PPSB-SD
4 ED50 and ED95 of Intranasal Dexmedetomidine in Pediatric Patients Undergoing Transthoracic Echocardiography Study Recruiting NCT02780427 Phase 4 intranasal dexmedetomidine
5 Evaluation of PEGylated Doxorubicin Hydrochloride Liposome Injection(Duomeisu®) Combined With Carboplatin Versus Paclitaxel Plus Carboplatin in the First-line Treatment of Epithelial Ovarian Cancer: A Randomized, Open, Multicenter Clinical Study Not yet recruiting NCT03794778 Phase 4 pegylated liposomal doxorubicin;paclitaxel;Carboplatin
6 Ciclesonide vs Fluticasone Propionate Nasal Sprays in Patients With Nasal Poplyposis; a Randomized Clinical Trial Unknown status NCT02665806 Phase 3 Ciclesonide;Fluticasone
7 Botulinum Toxin to Improve Results in Cleft Lip Repair Unknown status NCT01429402 Phase 3 Botulinum Toxin Type A;Botulinum Type A;Normal Saline;Normal Saline
8 Leuprolide Acetate Suppresses Pedophilic Urges and Arousability Unknown status NCT00220350 Phase 2, Phase 3 leuprolide acetate
9 Randomised, Non-blind, Parallel Group Study to Compare Tandem High Dose Melphalan (200mg/m²) Versus Triple Intermediate Dose Melphalan (100mg/m²) and Stem Cell Transplantation in Induction Phase and Prednisolone/IFN Versus IFN in Maintenance Therapy in Newly Diagnosed Patients With Multiple Myeloma Completed NCT00205764 Phase 3 Melphalan
10 A Randomized, Double-Blind, Split-mouth, Placebo-controlled, Clinical Trial of the Effect of Sub-gingival Irrigation With Ibuprofen Mouthwash in Treatment of Periodontal Diseases Completed NCT02538237 Phase 2, Phase 3 placebo;Ibuprofen 2% mouthwash
11 Nt-proBNP Guided Prevention of Cardiovascular Events in a Population of Diabetic Patients Without a History of Cardiac Disease Completed NCT00562952 Phase 2, Phase 3 Telmisartan, Bisoprolol;placebo
12 Impact Of Different Ablation Approaches on Outcome In Coexistent Atrial Fibrillation and Flutter Completed NCT01439386 Phase 3
13 Liberal Versus Restrictive Platelet Transfusion for Treatment of Hemodynamically Significant Patent Ductus Arteriosus in Thrombocytopenic Preterm Neonates- A Randomized Open Label, Controlled Trial Completed NCT03022253 Phase 3 Paracetamol;Ibuprofen
14 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
15 Evaluation of the Efficacy and Tolerability of Alendronate Versus Denosumab in Kidney Transplant Patients With Reduced Bone Mineral Density Recruiting NCT04169698 Phase 2, Phase 3 Denosumab 60 mg/ml [Prolia];Alendronate 70Mg Tab
16 Prospective Randomized Controlled Study of the Maintenance Regimen and Revised Regimen for Advanced Breast Cancer Survivors After First-line Salvage Therapy Not yet recruiting NCT03423849 Phase 2, Phase 3 Vinorelbine;Gemcitabine;Cisplatin;Capecitabine
17 A Prospectively Randomized Phase III Trial Comparing Short-term mFOLFOXIRI, Long-term mFOLFOX6 and Traditional Chemoradiation as Preoperative Neoadjuvant Therapy for Locally Advanced Rectal Cancer Not yet recruiting NCT03975049 Phase 3 FOLFOXIRI Protocol;Folfox Protocol
18 A Randomized Phase II Trial of Carboplatin-Paclitaxel Compared to Carboplatin-Paclitaxel-Bevacizumab in Advanced (Stage III-IV) or Recurrent Endometrial Cancer Unknown status NCT01770171 Phase 2 Bevacizumab;Carboplatin AUC 5+Paclitaxel 175 mg/mq q 21 for 6-8 cycles
19 A Multicentre Open-label Phase IIa Study With Escalating Dose of MS1819- SD, to Investigate the Efficacy and Safety of a Yarrowia Lipolytica Lipase Preparation for the Compensation of Exocrine Pancreatic Insufficiency Caused by Chronic Pancreatitis and/or Distal Pancreatectomy Completed NCT03481803 Phase 2 MS1819-SD
20 Open-Label, Multi-Center, Dose Escalation Phase 1/2 Study of Anti-CCR4 Monoclonal Antibody KW-0761 as Monotherapy in Subjects With Previously Treated Peripheral T-Cell Lymphoma Completed NCT00888927 Phase 1, Phase 2
21 A Phase II Study Of hu14.18-IL2 In Children With Recurrent Or Refractory Neuroblastoma Completed NCT00082758 Phase 2
22 A Phase II Single Arm Study of Carboplatin and DOXIL (PLD) Plus Bevacizumab in Patients With Platinum Sensitive Recurrent Ovarian, Fallopian Tube and Primary Peritoneal Cancers Completed NCT00698451 Phase 2 doxorubicin HCL liposome; bevacizumab; carboplatin
23 Effects of Sleep Disruption on Drug Response Recruiting NCT03680287 Phase 2 Within-Subject test of blinded study medication
24 Phase Ⅱ Clinical Study of RALOX or CAPOX Combined With Bevacizumab in the First-line Treatment of Advanced Colorectal Cancer Recruiting NCT03813641 Phase 2 Raltitrexed;Capecitabine
25 Phase 2 Solid Tumor Immunotherapy Trial Using HLA-Haploidentical Transplant and Donor Natural Killer Cells: The STIR Trial Recruiting NCT02100891 Phase 2 Donor NK Cell Infusion
26 Testing the Ability of JNJ-18038683, a Selective Serotonin (5-HT)7 Antagonist, to Improve Cognition and Reduce Residual Depressive Symptoms in Stable Bipolar Patients (18038683BCD2001) Recruiting NCT02466685 Phase 2 JNJ-18038683
27 A Phase 2, Randomized, Double-Blind, Vehicle-Controlled, Proof-of-Concept Study to Evaluate the Efficacy, Safety, and Local Tolerability of Crisaborole Ointment, 2%, in Adult Participants With Stasis Dermatitis Without Active Skin Ulceration Not yet recruiting NCT04091087 Phase 2 crisaborole ointment
28 Administration of an Oral PDE5 Inhibitor, Tadalafil in Conjunction With Lenalidomide and Dexamethasone in Patients With Multiple Myeloma Terminated NCT01374217 Phase 2 Tadalafil;Lenalidomide;Dexamethasone;Clarithromycin
29 Therapeutic Potential of Stem Cell Conditioned Medium on Chronic Ulcer Wounds : Pilot Study in Human Not yet recruiting NCT04134676 Phase 1 Conditioned Media;Topical Antibiotic Combinations
30 Effect of an Exercise Training Intervention on Health-related Quality of Life and Psychosocial and Behavioral Variables in Adult Solid Organ Transplant Recipients: a Quasi-experimental Study Design Unknown status NCT02533245
31 Intensive Pharmacokinetics of the Nelfinavir-Rifabutin Interaction in Patients With HIV-Related Tuberculosis Treated With a Rifabutin-Based Regimen Unknown status NCT00018083 rifabutin;isoniazid;efavirenz
32 Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity? Unknown status NCT01274208
33 Measurement of FEV1 and Other Physiological Parameters by Connected Devices in Lung Transplanted Patients Unknown status NCT03453229
34 Deep Brain Stimulation for Treatment of Severe Alzheimer's Disease: Study Protocol of a Prospective, Self-control Phase I Trial Unknown status NCT03115814
35 Development and Validation of a New Indirect Calorimetry Device for Energy Expenditure Measurement in ICU Patients: The ICALIC International Multicentric Study Unknown status NCT02024958
36 Comparison Between Endoscopic Stenting and Cholecystojejunostomy for PreoperativeDrainage Before Pancreaticoduodenectomy Unknown status NCT01913275
37 Study of Ocular Blood Flow Using Laser Doppler Flowmetry in Patients With Glaucoma and/or OSAS Unknown status NCT00874913
38 Are Technicians Showing Bronchial Hyperreactivity Able to Safely Perform Bronchial Provocation Tests? Completed NCT01937494 histamine-benzylic alcohol (magistral preparation)
39 Effect of Acutely Lowering Intraocular Pressure on Multifocal Visual Evoked Potential Testing Completed NCT00799994
40 Kinetics of Cytomegalovirus (CMV) Replication and CMV-specific Immune Reconstitution After Hematopoietic Stem Cell Transplantation. Completed NCT00273143
41 Heart Cycle Prestudy Guided Exercise (GEx) for Coronary Artery Disease Patients (CAD) "GEx Home Application Testing" Completed NCT01627457
42 Role of Body Shadow in Improving Virtual Reality Rehabilitation: Preliminary Data From BTS Nirvana Completed NCT03095560
43 Training Latinos as Peer Patient Navigators for Colon Cancer Screening Completed NCT02226107
44 Evaluation of a Novel Diagnostic Kit for the Detection of Placental Alpha-Microglobulin-1 in the Prediction of Preterm Birth in Women Presenting With Signs and Symptoms of Preterm Labor in Comparison to a Control Group of Asymptomatic Women With the Same Gestational Age - a Multicenter Trial Completed NCT02092688
45 A Prospective Randomised Trial of Plate Fixation Versus Tension Band Wire for Olecranon Fractures Completed NCT01391936
46 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
47 Potentiating Rural Investment in Children's Eyecare (PRICE) Completed NCT02231606
48 Effects of Vocal Exercise Following Botox Injection on Voice Handicap and Communicative Participation for Adductor Spasmodic Dysphonia Completed NCT03349086
49 Influences of DNAR Order Prohibition on Hospital Discharged Ratios and Neurological Outcomes at Discharge Completed NCT02585050
50 Effects of Sleep Deprivation on Driving Performance and Central Fatigue Completed NCT01606020

Search NIH Clinical Center for Trichohepatoenteric Syndrome 1

Cochrane evidence based reviews: trichohepatoenteric syndrome

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:

40
Breast, Bone, Brain, Skin, Heart, Liver, Kidney

Publications for Trichohepatoenteric Syndrome 1

Articles related to Trichohepatoenteric Syndrome 1:

(show all 44)
# Title Authors PMID Year
1
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). 61 24 56 6
20176027 2010
2
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. 24 56 6
21120949 2011
3
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. 61 24 6
22444670 2012
4
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. 61 24 52
25688341 2015
5
Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder. 24 56
17318842 2007
6
"Syndromic diarrhea" may have better outcome than previously reported. 24 56
15069414 2004
7
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. 24 56
9021008 1997
8
Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. 24 56
8021782 1994
9
Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. 24 56
7073301 1982
10
Trichohepatoenteric Syndrome 61 6
29334452 2018
11
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 61 24
28292286 2017
12
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome. 61 24
28027214 2017
13
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. 61 24
27431780 2016
14
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. 61 24
27050310 2016
15
Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran. 61 24
26881168 2016
16
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. 61 24
25335910 2015
17
Trichohepatoenteric syndrome: founder mutation in asian indians. 61 24
23326254 2012
18
Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. 56
17236206 2007
19
Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. 56
14521564 2003
20
Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. 56
9481629 1998
21
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. 24
28496993 2017
22
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 24
27302973 2017
23
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency. 24
26945392 2016
24
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. 24
25976726 2015
25
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. 24
25782092 2015
26
Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. 24
25714577 2015
27
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. 24
25194001 2014
28
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. 24
25064072 2014
29
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors. 24
25343120 2014
30
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. 24
24108068 2014
31
A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma. 24
23974064 2013
32
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. 24
23679950 2013
33
Syndromic (phenotypic) diarrhea in early infancy. 24
18304370 2008
34
The yeast antiviral proteins Ski2p, Ski3p, and Ski8p exist as a complex in vivo. 24
10744028 2000
35
Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome. 61
30684736 2019
36
A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea. 61
31132033 2019
37
Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report. 61
29130476 2018
38
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome. 61
29868001 2018
39
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea. 61
29127627 2018
40
Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case. 61
30397475 2018
41
Emerging roles of the processing of nucleic acids and Toll-like receptors in innate immune responses to nucleic acids. 61
27334229 2017
42
The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. 61
26747865 2016
43
The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease. 61
26526116 2016
44
Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. 61
25932458 2015

Variations for Trichohepatoenteric Syndrome 1

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 1:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC37 NM_014639.3(TTC37):c.2808G>A (p.Trp936Ter)SNV Pathogenic 196135 rs534237033 5:94848293-94848293 5:95512589-95512589
2 AGK NM_018238.4(AGK):c.409C>T (p.Arg137Ter)SNV Pathogenic 209130 rs746709222 7:141313964-141313964 7:141614164-141614164
3 TTC37 TTC37, IVS28AS, G-A, -2SNV Pathogenic 31231
4 TTC37 NM_014639.3(TTC37):c.1632+1deldeletion Pathogenic 31232 rs1060499527 5:94859358-94859358 5:95523654-95523654
5 TTC37 NM_014639.3(TTC37):c.439C>T (p.Gln147Ter)SNV Pathogenic 31233 rs387907147 5:94876498-94876498 5:95540794-95540794
6 TTC37 NM_014639.3(TTC37):c.2251C>T (p.Gln751Ter)SNV Pathogenic 31234 rs387907148 5:94852890-94852890 5:95517186-95517186
7 TTC37 NM_014639.3(TTC37):c.2515+1G>CSNV Pathogenic 31235 rs1060499528 5:94852375-94852375 5:95516671-95516671
8 TTC37 NM_014639.3(TTC37):c.2578-7_2578-3deldeletion Pathogenic 31236 rs746874042 5:94852116-94852120 5:95516412-95516416
9 TTC37 NM_014639.3(TTC37):c.4620+1G>CSNV Pathogenic 31237 rs370373017 5:94803569-94803569 5:95467865-95467865
10 TTC37 NM_014639.3(TTC37):c.409C>T (p.Arg137Ter)SNV Pathogenic 561159 rs776321294 5:94876528-94876528 5:95540824-95540824
11 TTC37 NM_014639.4(TTC37):c.772C>T (p.Gln258Ter)SNV Likely pathogenic 666990 5:94865913-94865913 5:95530209-95530209
12 TTC37 NM_014639.3(TTC37):c.3272del (p.Ile1090_Leu1091insTer)deletion Likely pathogenic 689648 5:94838653-94838653 5:95502949-95502949
13 TTC37 NM_014639.4(TTC37):c.4175_4176dup (p.Val1393fs)duplication Likely pathogenic 800979 5:94818212-94818213 5:95482508-95482509
14 TTC37 NM_014639.4(TTC37):c.4070del (p.Pro1357fs)deletion Likely pathogenic 804452 5:94818319-94818319 5:95482615-95482615
15 SKIV2L NM_006929.5(SKIV2L):c.774A>G (p.Glu258=)SNV Conflicting interpretations of pathogenicity 356319 rs143738551 6:31929148-31929148 6:31961371-31961371
16 SKIV2L NM_006929.5(SKIV2L):c.384T>C (p.Ala128=)SNV Conflicting interpretations of pathogenicity 356314 rs3895064 6:31928238-31928238 6:31960461-31960461
17 SKIV2L NM_006929.5(SKIV2L):c.791A>T (p.Glu264Val)SNV Uncertain significance 356320 rs200318261 6:31929325-31929325 6:31961548-31961548
18 SKIV2L NM_006929.5(SKIV2L):c.1173G>A (p.Pro391=)SNV Uncertain significance 356325 rs61761945 6:31930324-31930324 6:31962547-31962547
19 SKIV2L NM_006929.5(SKIV2L):c.1890C>T (p.Arg630=)SNV Uncertain significance 356330 rs779331758 6:31932038-31932038 6:31964261-31964261
20 SKIV2L NM_006929.5(SKIV2L):c.2340+13G>ASNV Uncertain significance 356337 rs777138745 6:31934636-31934636 6:31966859-31966859
21 SKIV2L NM_006929.5(SKIV2L):c.3070-7T>CSNV Uncertain significance 356344 rs201101301 6:31936456-31936456 6:31968679-31968679
22 SKIV2L NM_006929.5(SKIV2L):c.1151C>T (p.Thr384Ile)SNV Uncertain significance 356324 rs886061307 6:31930302-31930302 6:31962525-31962525
23 SKIV2L NM_006929.5(SKIV2L):c.1705G>A (p.Val569Met)SNV Uncertain significance 356328 rs144147284 6:31931747-31931747 6:31963970-31963970
24 SKIV2L NM_006929.5(SKIV2L):c.1808T>C (p.Phe603Ser)SNV Uncertain significance 356329 rs886061308 6:31931850-31931850 6:31964073-31964073
25 SKIV2L NM_006929.5(SKIV2L):c.2052C>T (p.His684=)SNV Uncertain significance 356331 rs61761946 6:31933640-31933640 6:31965863-31965863
26 SKIV2L NM_006929.5(SKIV2L):c.2203-12A>GSNV Uncertain significance 356335 rs114974766 6:31934474-31934474 6:31966697-31966697
27 SKIV2L NM_006929.5(SKIV2L):c.2401A>G (p.Met801Val)SNV Uncertain significance 356338 rs369020218 6:31934841-31934841 6:31967064-31967064
28 SKIV2L NM_006929.5(SKIV2L):c.954C>T (p.Ala318=)SNV Uncertain significance 356322 rs577271106 6:31929721-31929721 6:31961944-31961944
29 SKIV2L NM_006929.5(SKIV2L):c.2764C>G (p.Pro922Ala)SNV Uncertain significance 356343 rs142436411 6:31935765-31935765 6:31967988-31967988
30 SKIV2L NM_006929.4(SKIV2L):c.-43T>CSNV Uncertain significance 356307 rs886061303 6:31926927-31926927 6:31959150-31959150
31 SKIV2L NM_006929.4(SKIV2L):c.-22A>TSNV Uncertain significance 356308 rs755276769 6:31926948-31926948 6:31959171-31959171
32 SKIV2L NM_006929.5(SKIV2L):c.132C>T (p.Pro44=)SNV Uncertain significance 356311 rs886061306 6:31927792-31927792 6:31960015-31960015
33 SKIV2L NM_006929.5(SKIV2L):c.279C>G (p.Val93=)SNV Uncertain significance 356313 rs11541400 6:31928039-31928039 6:31960262-31960262
34 TTC37 NM_014639.3(TTC37):c.2494G>T (p.Gly832Cys)SNV Uncertain significance 689649 5:94852397-94852397 5:95516693-95516693
35 TTC37 NM_014639.3(TTC37):c.4310G>T (p.Ser1437Ile)SNV Uncertain significance 626193 rs755895621 5:94814049-94814049 5:95478345-95478345
36 TTC37 NM_014639.3(TTC37):c.3885G>T (p.Lys1295Asn)SNV Uncertain significance 626198 rs892221746 5:94826658-94826658 5:95490954-95490954
37 TTC37 NM_014639.3(TTC37):c.3124G>C (p.Ala1042Pro)SNV Uncertain significance 626199 rs146638227 5:94839611-94839611 5:95503907-95503907
38 TTC37 NM_014639.3(TTC37):c.1783C>G (p.Pro595Ala)SNV Uncertain significance 626200 rs751343448 5:94857986-94857986 5:95522282-95522282
39 SKIV2L NM_006929.5(SKIV2L):c.1694C>T (p.Ala565Val)SNV Uncertain significance 356327 rs746401418 6:31931736-31931736 6:31963959-31963959
40 SKIV2L NM_006929.5(SKIV2L):c.2060C>A (p.Ser687Tyr)SNV Uncertain significance 356332 rs762436773 6:31933648-31933648 6:31965871-31965871
41 SKIV2L NM_006929.5(SKIV2L):c.2068C>T (p.Arg690Trp)SNV Uncertain significance 356333 rs751980634 6:31933656-31933656 6:31965879-31965879
42 SKIV2L NM_006929.5(SKIV2L):c.2165G>A (p.Arg722Gln)SNV Uncertain significance 356334 rs768031925 6:31933753-31933753 6:31965976-31965976
43 SKIV2L NM_006929.5(SKIV2L):c.3213G>A (p.Ala1071=)SNV Uncertain significance 356347 rs374744199 6:31936680-31936680 6:31968903-31968903
44 SKIV2L NM_006929.5(SKIV2L):c.3430C>T (p.Arg1144Trp)SNV Uncertain significance 356350 rs146401600 6:31937087-31937087 6:31969310-31969310
45 SKIV2L NM_006929.5(SKIV2L):c.3719C>T (p.Ala1240Val)SNV Uncertain significance 356355 rs774251531 6:31937470-31937470 6:31969693-31969693
46 TTC37 NM_014639.3(TTC37):c.3808C>G (p.Pro1270Ala)SNV Uncertain significance 430077 rs146627706 5:94826735-94826735 5:95491031-95491031
47 SKIV2L NM_006929.5(SKIV2L):c.3310C>T (p.Arg1104Trp)SNV Uncertain significance 356348 rs780107431 6:31936777-31936777 6:31969000-31969000
48 SKIV2L NM_006929.5(SKIV2L):c.3409C>T (p.Arg1137Cys)SNV Uncertain significance 356349 rs553733225 6:31937066-31937066 6:31969289-31969289
49 SKIV2L NM_002904.6(NELFE):c.-37C>TSNV Uncertain significance 356301 rs886061298 6:31926697-31926697 6:31958920-31958920
50 SKIV2L NM_006929.5(SKIV2L):c.120G>A (p.Glu40=)SNV Uncertain significance 356310 rs886061305 6:31927171-31927171 6:31959394-31959394

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

73
# 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

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 TTC37 SKIV2L

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 TTC37 SKIV2L

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

Sources for Trichohepatoenteric Syndrome 1

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