THES1
MCID: TRC086
MIFTS: 60

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 57 40 12 72 29 13 6 15
Trichohepatoenteric Syndrome 12 25 20 43 58 29 6 44 15 70
Tricho-Hepato-Enteric Syndrome 40 12 73 20 43 58 36
Syndromic Diarrhea 40 12 20 43 58 72
Sd/the 12 25 20 43 58
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 12 25 20 58
Phenotypic Diarrhea of Infancy 25 43 72
Phenotypic Diarrhea 12 20 58
Thes1 57 12 72
Thes 12 25 43
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 57 43
Intractable Diarrhea with Phenotypic Anomalies 43 72
Diarrhea, Syndromic 57 43
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 72
Syndrome, Trichohepatoenteric, Type 1 39
Syndromatic Diarrhea 20

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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 trichohepatoenteric syndrome 2 and diarrhea 5, with tufting enteropathy, congenital, and has symptoms including thin, sparse hair and infantile diarrhea. An important gene associated with Trichohepatoenteric Syndrome 1 is TTC37 (Tetratricopeptide Repeat Domain 37). The drugs Carboplatin and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and placenta, 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.

GARD : 20 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® : 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 65)
# Related Disease Score Top Affiliating Genes
1 trichohepatoenteric syndrome 2 31.9 TTC37 SKIV2L ARID1B
2 diarrhea 5, with tufting enteropathy, congenital 31.9 TTC37 SKIV2L
3 congenital diarrhea 30.8 TTC37 STXBP2 SKIV2L
4 gastrointestinal defects and immunodeficiency syndrome 30.2 TTC37 SKIV2L
5 infantile liver failure syndrome 10.4 EPRS1 AARS1
6 charcot-marie-tooth disease, axonal, type 2u 10.4 EPRS1 AARS1
7 charcot-marie-tooth disease, axonal, type 2n 10.4 EPRS1 AARS1
8 charcot-marie-tooth disease, dominant intermediate c 10.4 EPRS1 AARS1
9 transient hypogammaglobulinemia of infancy 10.4 CD27 CD19
10 optic disc anomalies with retinal and/or macular dystrophy 10.3 TTC37 SKIV2L DNAI2
11 transient hypogammaglobulinemia 10.3 CD27 CD19
12 diarrhea 2, with microvillus atrophy 10.3 TTC37 STXBP2 SKIV2L
13 arthrogryposis, distal, type 4 10.3 CD27 CD19
14 combined oxidative phosphorylation deficiency 12 10.3 EPRS1 AARS1
15 hemochromatosis, type 1 10.3
16 diarrhea 10.3
17 immunodeficiency 14 10.3 TTC37 LRBA CD27
18 autosomal dominant distal hereditary motor neuronopathy 10.3 EPRS1 AARS1
19 dysphagia 10.3 EPRS1 ARID1B
20 t cell deficiency 10.3 LRBA CD27 CD19
21 robinow syndrome, autosomal recessive 1 10.3 WARS2 EPRS1 AARS1
22 omenn syndrome 10.3 SPINK5 LRBA CD19
23 combined oxidative phosphorylation deficiency 9 10.3 PLCG2 LRBA CD27
24 charcot-marie-tooth disease, axonal, type 2d 10.3 EPRS1 AARS1
25 perrault syndrome 10.2 WARS2 EPRS1 AARS1
26 immune deficiency disease 10.2
27 schuurs-hoeijmakers syndrome 10.2 CD27 CD19
28 nk cell deficiency 10.2 MCM4 GINS1
29 b cell deficiency 10.2 PLCG2 LRBA CD27 CD19
30 lentigines 10.2
31 otitis media 10.2
32 hemochromatosis, neonatal 10.2
33 hypermethioninemia 10.2
34 colitis 10.2
35 cholestasis 10.2
36 liver disease 10.2
37 liver cirrhosis 10.2
38 bacterial pneumonia 10.2
39 placental abruption 10.2
40 autosomal recessive disease 10.2
41 autoimmune lymphoproliferative syndrome 10.0 LRBA CD27 CD19
42 mulchandani-bhoj-conlin syndrome 10.0 CD27 CD19
43 ectopic pregnancy 9.9
44 graft-versus-host disease 9.9
45 alacrima, achalasia, and mental retardation syndrome 9.9
46 combined immunodeficiency 9.9
47 hemangioma 9.9
48 agammaglobulinemia 9.9
49 pyoderma 9.9
50 conjunctivitis 9.9

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 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
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 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 prominent forehead 58 31 very rare (1%) Frequent (79-30%) HP:0011220
12 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
13 hepatic fibrosis 58 31 very rare (1%) Frequent (79-30%) HP:0001395
14 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
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 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
20 uncombable hair 58 31 frequent (33%) Frequent (79-30%) HP:0030056
21 villous atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0011473
22 panhypogammaglobulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003139
23 dependency on intravenous nutrition 58 31 frequent (33%) Frequent (79-30%) HP:0025156
24 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
25 abnormality of iron homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011031
26 lymphopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001888
27 tetralogy of fallot 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001636
28 ventricular septal defect 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001629
29 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
30 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
31 aortic regurgitation 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001659
32 gastritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005263
33 colitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002583
34 thrombocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001894
35 increased mean platelet volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0011877
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 atrial septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001631
41 bicuspid aortic valve 58 31 very rare (1%) Very rare (<4-1%) HP:0001647
42 glaucoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000501
43 patent ductus arteriosus 58 31 very rare (1%) Very rare (<4-1%) HP:0001643
44 generalized hypopigmentation 58 31 very rare (1%) Very rare (<4-1%) HP:0007513
45 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
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 peripheral pulmonary artery stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0004969
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®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent eyes

Prenatal Manifestations:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Laboratory Abnormalities:
hypoalbuminemia
galactosuria without galactosemia
hypermethioninemia, progressive
increased serum methionine (reported in 2 cases)
abnormal serum liver enzyme levels
more
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)

Abdomen Liver:
hepatomegaly
cirrhosis
cholestatic jaundice
progressive liver failure
increased iron in hepatocytes
more
Head And Neck Face:
prominent forehead
long philtrum
square forehead
prominent cheeks
flat supraorbital ridges

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

Prenatal Manifestations Placenta And Umbilical Cord:
large placenta

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

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 (Updated 05-Apr-2021)

UMLS symptoms related to Trichohepatoenteric Syndrome 1:


thin, sparse hair; infantile diarrhea

MGI Mouse Phenotypes related to Trichohepatoenteric Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 AARS1 CD19 CD27 DNAI2 EPRS1 GINS1
2 growth/size/body region MP:0005378 9.77 AARS1 ARID1B CD19 DNAI2 EPRS1 LRBA
3 mortality/aging MP:0010768 9.47 AARS1 AGK ARID1B CD19 EPRS1 GINS1

Drugs & Therapeutics for Trichohepatoenteric Syndrome 1

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

(show top 50) (show all 355)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4 41575-94-4 10339178 498142 38904
2
Ifosfamide Approved Phase 4 3778-73-2 3690
3
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
4
Primaquine Approved Phase 4 90-34-6 4908
5
Artemether Approved Phase 4 71963-77-4 9796294 119380 68911
6
Lumefantrine Approved Phase 4 82186-77-4 6437380
7
Glimepiride Approved Phase 4 93479-97-1 3476
8
Ipratropium Approved, Experimental Phase 4 60205-81-4, 22254-24-6 43232 657309
9
Ranibizumab Approved Phase 4 347396-82-1 459903
10
Cimetidine Approved, Investigational Phase 4 51481-61-9 2756
11
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
12
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
13
Ranitidine Approved, Withdrawn Phase 4 66357-35-5, 66357-59-3, 82530-72-1 3001055
14
Pantoprazole Approved Phase 4 102625-70-7 4679
15
Famotidine Approved Phase 4 76824-35-6 3325
16
Nizatidine Approved Phase 4 76963-41-2 3033637
17
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
18
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
19
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
20
Domperidone Approved, Investigational, Vet_approved Phase 4 57808-66-9 3151
21
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
22
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
23
Etoposide Approved Phase 4 33419-42-0 36462
24
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
25
Lafutidine Investigational Phase 4 118288-08-7 5282136
26
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
27 Alkylating Agents Phase 4
28
Isophosphamide mustard Phase 4 100427
29 Antimalarials Phase 4
30 Antiparasitic Agents Phase 4
31 Artemether, Lumefantrine Drug Combination Phase 4
32 Antiprotozoal Agents Phase 4
33 Cholinergic Antagonists Phase 4
34 Gastrointestinal Agents Phase 4
35 Cytochrome P-450 Enzyme Inhibitors Phase 4
36 Muscarinic Antagonists Phase 4
37 Cholinergic Agents Phase 4
38 Respiratory System Agents Phase 4
39 Anti-Asthmatic Agents Phase 4
40 Bronchodilator Agents Phase 4
41 Incretins Phase 4
42 Anti-Arrhythmia Agents Phase 4
43 Sitagliptin Phosphate Phase 4
44 Dipeptidyl-Peptidase IV Inhibitors Phase 4
45
protease inhibitors Phase 4
46 HIV Protease Inhibitors Phase 4
47 Soy Bean Phase 4
48 Adrenergic beta-Agonists Phase 4
49 Albuterol Phase 4
50 Tocolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 307)
# Name Status NCT ID Phase Drugs
1 SIOP CNS GCT II: Prospective Trial for the Diagnosis and Treatment of Children, Adolescents and Young Adults With Intracranial Germ Cell Tumors Unknown status NCT01424839 Phase 4 Carboplatin, Etoposide, Ifosfamide;Cisplatin, etoposide, Ifosfamide (standard);Cisplatin, Etoposide, Ifosfamide (high dose)
2 Assessing the Effectiveness of Targeted Active Case Detection Among High Risk Populations in Southern Lao PDR Completed NCT03783299 Phase 4 Artemether-lumefantrine;Primaquine Phosphate
3 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®) (2mg) Over a 12-week Period for Patients Suffering From Neovascular Age-related Macular Degeneration (AMD) French SD OCT in wAMD Completed NCT02246829 Phase 4
4 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
5 A Multicenter, Randomized, Active-controlled, Parallel Group, Open-label, Exploratory Study to Evaluate the Efficacy on Glucose Variability(MAGE, Glucose SD) and Safety of Initial Combination Therapy of Gemigliptin 50mg q.d., Versus Sitagliptin 100mg q.d., or Glimepiride 2mg q.d. With Metformin 500-1,000mg q.d. in Patients With Type 2 Diabetes Completed NCT01890629 Phase 4 Gemigliptin + Metformin / Sitagliptin + Metformin / Glimepiride + Metformin
6 The Effectiveness of Single Dose Ultibro Breezhaler (Indacaterol/Glycopyrronium) by Sd-DPI Versus Ipratropium/Salbutamol by Nebulizer in Improving FEV1 and Dyspnea During Stable State of COPD Completed NCT02576626 Phase 4 indacaterol/glycopyrronium 110/50 Breezhaler®;ipratropium/salbutamol 0,5 mg, 2,5 mg by nebulisation
7 SD-OCT-guided Intravitreal Ranibizumab Treatment in Choroidal Neovascularization Due to Myopia Completed NCT03409250 Phase 4 Ranibizumab, Lucentis
8 Effects of NSK-SD (Nattokinase) on Blood Pressure. A Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT02886507 Phase 4
9 "Effect of Orally Administered Two Successive Doses of PPIs and/ or H2RAs Without or With a Prokinetic Drug, on the Intragastric pH and Volume and Bile Refluxate in Adults Patients Undergoing Elective Surgery. Completed NCT02703896 Phase 4 Drug either PPIS or H2RA and prokinetics
10 Clinical Trial on the Survival Advantage of Kanglaite Injection (KLTi) in Advanced Non-Small Cell Lung Cancer (NSCLC) Recruiting NCT03986528 Phase 4 Kanglaite Injection+Chemotherapy;Chemotherapy
11 ED50 and ED95 of Intranasal Dexmedetomidine in Pediatric Patients Undergoing Transthoracic Echocardiography Study Recruiting NCT02780427 Phase 4 intranasal dexmedetomidine
12 A Comparison of Three Different Modalities in Improving Oral Hygiene in Adult Orthodontic Patients - A Randomized Controlled Trial Recruiting NCT04386421 Phase 4 Plaque disclosing tablets
13 A Clinical Trial of Chidamide Combined With Etoposide in Relapsed or Refractory NK/T-cell Lymphoma Recruiting NCT04490590 Phase 4 Chidamide+ Etoposide
14 Reproducibility of Retinal Nerve Fiber Layer Thickness Measurements Using the Eye Tracker and Retest Function of Spectralis® SD-OCT in Glaucomatous Eyes and Healthy Controls Terminated NCT01228721 Phase 4
15 Study of Growth-promoting and Metabolic Effects of Growth Hormone (rhGH) by Comparison of Two Regimens of rhGH Administration to SGA Children. Pharmacogenetics of Metabolic Responses to rhGH Terminated NCT00597480 Phase 4 rhGH (Norditropine SimpleXx®);rhGH norditropine simple Xx
16 A Phase IV Multicentre, Randomised, Double-blind, Placebo Controlled, Trial to Evaluate the Safety and Efficacy of Raptiva ® in the Treatment of Subjects With Moderate to Severe Plaque Psoriasis Involving Hands and/or Feet, With or Without Pustules. Terminated NCT00739882 Phase 4 Efalizumab - anti CD11a recombinant human monoclonal antibody;Placebo
17 Predictive Value of Baseline and Stimulated Serum IGF-1 and IGFBP-3 During a Dose-escalation IGF-1 Generation Test for the 1 Year Growth Response to Growth Hormone (GH) Therapy in Short Children With Low IGF-1 and a Normal GH Peak in a Provocation Test Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
18 An Open Label, Randomized, Multicenter, Phase II Study to Compare Efficacy and Safety of Gefitinib/ Pemetrexed With Pemetrexed Alone as Maintenance Therapy in Patients With Advanced (Stage IV) EGFR Mutation Negative or T790M Single Mutation Nonsquamous NSCLC Who Respond to 4 Cycles of Pemetrexed/ Platinum as First-line Therapy Unknown status NCT01579630 Phase 2, Phase 3 Pemetrexed 500mg/m2 iv;Pemetrexed 500mg/m2 iv and Gefitinib 250 mg
19 A Randomized Phase III Trial of Gemcitabine and Docetaxel Versus Gemcitabine and Paclitaxel in Patients With Metastatic Breast Cancer: A Comparison of Different Schedules Completed NCT00236899 Phase 3 Gemcitabine;Docetaxel;Paclitaxel
20 A Randomized Double-Blind, Placebo-Controlled Study of SD-809 Extended Release for the Treatment of Chorea Associated With Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
21 An Open-Label, Long-Term Safety Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02198794 Phase 3 SD-809;Placebo
22 Investigation of Safety and Efficacy of Budesonide Inhalation Suspension in the Long-Term Use in Japanese Children With Bronchial Asthma (Open Long-Term Extension Study Following Study SD-004-0765 Completed NCT00232648 Phase 3 Pulmicort (budesonide) Respules
23 A Multicenter, Randomised Double Blind, Placebo Controlled Study of Efficacy, Safety and Tolerability of Two Topical K40 Formulations in Adults With Seborrhoeic Dermatitis (SD) of the Scalp. Completed NCT01137630 Phase 2, Phase 3 K40a;K40b;Placebo
24 Prophylactic Use of Filgrastim SD/01 In Patients With Hodgkin's Disease Receiving ABVD Chemotherapy Completed NCT00038558 Phase 3 Filgrastim SD/01;Adriamycin;Bleomycin;Vinblastine;DTIC
25 A Phase 3, Multi-center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;Placebo (SD-101-0.0) cream
26 Effect of the Growth Hormone MAXOMAT ® on the Growth of Small Children and Adolescents (<-2 SD) Due to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
27 A Multicenter, Non-Randomized Study of the CYPHER NxT Sirolimus-Eluting Coronary Stent on BX SONIC OVER-THE-WIRE (OTW) Stent Delivery System(SDS)for the Treatment of de Novo Native Coronary Artery Lesions Completed NCT00231283 Phase 3
28 Phase 3, Prospective, Multicenter Study to Evaluate the Pharmacokinetics, Immunogenicity, Safety, and Efficacy of IMMUNATE Solvent Detergent (IMMUNATE SD) in Previously Treated Patients With Severe or Moderately Severe Hemophilia A Completed NCT00162019 Phase 3 Human Plasma-Derived Coagulation Factor VIII Concentrate (Virus Inactivated by Polysorbate 80 Treatment and Vapor Heat Treatment)
29 An Open-Label, Long Term Safety Study of SD-809 ER in Subjects With Chorea Associated With Huntington Disease Completed NCT01897896 Phase 3 SD-809
30 A Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02291861 Phase 3 SD-809;Placebo
31 A Randomized, Double-Blind, Placebo-Controlled Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02195700 Phase 2, Phase 3 SD-809;Placebo
32 The Beneficial Effects of a Novel Formulation of Bifidobacterium Longum BB536 and Lactobacillus Rhamnosus HN001 With Vitamin B6 on Gut Microbiota and Intestinal Permeability in IBS Patients. Completed NCT03815617 Phase 3
33 Effects of Growth Hormone on Cognition and Cerebral Metabolism in Adults Completed NCT01007071 Phase 3 Human Growth Hormone (1-134);Placebo
34 Esmolol Reduces Anesthetic Requirements Thereby Facilitating Early Extubation; a Prospective Controlled Study in Patients Undergoing Intracranial Surgery Completed NCT02455440 Phase 3 Esmolol;Placebo;Propofol and sevoflurane
35 Reducing the Burden of Chronic Psychotic Disorders in Tanzania Completed NCT04327843 Phase 3 Haloperidol Decanoate
36 A Multi-centre, Double-blind, Randomised, Parallel-group, Placebo-controlled, Phase III Confirmatory Study to Assess Efficacy and Safety of the Moderate Sedation of ICI35,868 With and Without EES0000645/A on Gastrointestinal Endoscopy Completed NCT01961349 Phase 3 Intralipid;ICI35,868 (Diprivan);ICI35,868 (Diprivan) + EES0000645/A (SDS)
37 Comparative Multicenter Randomized Study of Aflibercept Versus Placebo in Macular Telangiectasia Type 1 Recruiting NCT03845049 Phase 3 Aflibercept Injection [Eylea];SHAM injection
38 A Randomized Phase III Study of Metronomic vs. Intermittent Capecitabine Maintenance Therapy Following First-line Capecitabine and Docetaxel Therapy in HER2-negative Metastatic Breast Cancer Recruiting NCT01917279 Phase 3 Docetaxel plus Capecitabine;Intermittent Capecitabine;Metronomic Capecitabine
39 Severe Decrease of Growth Velocity in Children With Anorexia Nervosa. Therapeutic Trial of Growth Hormone Active, not recruiting NCT01626833 Phase 2, Phase 3 SOMATROPINE* : Norditropine® simplexx®
40 Correlating the Osteoarthritic Knee Microenvironment to Clinical Outcome After Treatment With Regenexx®SD Treatment Active, not recruiting NCT02848027 Phase 3
41 A 20-Week, Double-blind, Randomised, Placebo-controlled, Parallel-group Trial to Investigate the Efficacy and Safety of Daily Administration of Tricaprilin as AC-SD-03 in Subjects With Mild to Moderately Severe Probable Alzheimer's Disease and Who Are Non-carriers of the APOE4 Allele With an Optional 30-Week Open Label Extension Not yet recruiting NCT04187547 Phase 3 Tricaprilin;Placebo
42 An Open Label Multi-Center Extension Study to Evaluate the Long-term Safety of Zorblisa™ (SD-101-6.0) in Patients With Epidermolysis Bullosa Terminated NCT02670330 Phase 3 SD-101-6.0 cream
43 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Efficacy, Safety, and Tolerability Study of TV-1106 in Growth Hormone-Deficient Adults Who Are Not Current Users of rhGH Treatment Terminated NCT02410343 Phase 3 TV-1106;Placebo
44 Prospective, Randomized, Double Blind Placebo-Controlled Trial On The Efficacy Of Growth Hormone Replacement Therapy In Adult Patients With Isolated Growth Hormone Deficiency (PRO ISO-GHD Study) Terminated NCT00630487 Phase 3 Placebo;Somatropin
45 Randomized,Double-blind, Placebo Controlled Trial to Study the Efficacy and Safety of Probiotics in Adult Patients With Irritable Bowel Syndrome-diarrhea Predominant (IBS-D) Withdrawn NCT02545413 Phase 3 Probiotic VSL#3;Placebo
46 A Long-term, Confirmatory, Phase 3, Randomized, Double-Blind, Parallel Group, Placebo-Controlled Study To Investigate The Safety And Efficacy Of Orally Administered Sd-6010 In Subjects With Symptomatic Osteoarthritis Of The Knee Withdrawn NCT01438918 Phase 3 SD-6010;SD-6010;Placebo
47 A Randomized Phase 3 Study of Antineoplastons A10 and AS2-1 vs. Temozolomide in Subjects With Recurrent and / or Progressive Optic Pathway Glioma After Carboplatin or Cisplatin Therapy Withdrawn NCT01260103 Phase 3 Temozolomide;ANP Therapy
48 PROVE A Randomized Phase II Trial of Standard Carboplatin-based Chemotherapy With or Without Panitumumab in Platinum-sensitive Recurrent Ovarian Cancer Unknown status NCT01388621 Phase 2 Panitumumab;pegylated liposomal doxorubicin (PLD);Carboplatin;Gemcitabine;Carboplatin;Panitumumab
49 A Parallel, Double-blinded, Randomized, 6 Months, Two Arms Study With Lifestyle Intervention and Bydureon® or Lifestyle Intervention and Placebo in Adolescents With Obesity to Explore Differences With Regard to Change in BMI SDS Unknown status NCT02794402 Phase 2 Exenatide
50 Maintenance of Sorafenib Following Combined Therapy of Three-dimensional Conformal Radiation Therapy/Intensity-modulated Radiation Therapy and Transcatheter Arterial Chemoembolization in Patients With Locally Advanced Hepatocellular Carcinoma: a Phase I/II Study. Unknown status NCT00999843 Phase 1, Phase 2 Sorafenib

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
Liver, Bone, Placenta, Thymus, Kidney, Breast, Prostate

Publications for Trichohepatoenteric Syndrome 1

Articles related to Trichohepatoenteric Syndrome 1:

(show all 49)
# Title Authors PMID Year
1
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). 25 6 57 61
20176027 2010
2
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. 25 6 57
21120949 2011
3
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. 61 6 25
22444670 2012
4
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. 20 61 25
25688341 2015
5
Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder. 25 57
17318842 2007
6
"Syndromic diarrhea" may have better outcome than previously reported. 25 57
15069414 2004
7
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. 57 25
9021008 1997
8
Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. 57 25
8021782 1994
9
Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. 57 25
7073301 1982
10
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
11
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
12
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 61 25
28292286 2017
13
IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome. 61 25
28027214 2017
14
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. 25 61
27431780 2016
15
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. 25 61
27050310 2016
16
Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran. 25 61
26881168 2016
17
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. 25 61
25335910 2015
18
Trichohepatoenteric syndrome: founder mutation in asian indians. 61 25
23326254 2012
19
Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. 57
17236206 2007
20
Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. 57
14521564 2003
21
Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. 57
9481629 1998
22
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. 25
28496993 2017
23
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 25
27302973 2017
24
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. 25
26945392 2016
25
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. 25
25976726 2015
26
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. 25
25782092 2015
27
Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. 25
25714577 2015
28
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. 25
25194001 2014
29
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. 25
25064072 2014
30
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors. 25
25343120 2014
31
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. 25
24108068 2014
32
A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma. 25
23974064 2013
33
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. 25
23679950 2013
34
Syndromic (phenotypic) diarrhea in early infancy. 25
18304370 2008
35
The yeast antiviral proteins Ski2p, Ski3p, and Ski8p exist as a complex in vivo. 25
10744028 2000
36
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. 61
33114497 2020
37
The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan. 61
32793328 2020
38
Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila. 61
32294252 2020
39
Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome. 61
30684736 2019
40
A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea. 61
31132033 2019
41
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea. 61
29127627 2018
42
Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report. 61
29130476 2018
43
Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case. 61
30397475 2018
44
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome. 61
29868001 2018
45
Trichohepatoenteric Syndrome 61
29334452 2018
46
Emerging roles of the processing of nucleic acids and Toll-like receptors in innate immune responses to nucleic acids. 61
27334229 2017
47
The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. 61
26747865 2016
48
The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease. 61
26526116 2016
49
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 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SKIV2L NM_006929.5(SKIV2L):c.2572del (p.Gly857_Val858insTer) Deletion Pathogenic 30070 rs1582171003 GRCh37: 6:31935143-31935143
GRCh38: 6:31967366-31967366
2 TTC37 TTC37, IVS28AS, G-A, -2 SNV Pathogenic 31231 GRCh37:
GRCh38:
3 TTC37 NM_014639.3(TTC37):c.1632+1del Deletion Pathogenic 31232 rs1060499527 GRCh37: 5:94859358-94859358
GRCh38: 5:95523654-95523654
4 TTC37 NM_014639.3(TTC37):c.439C>T (p.Gln147Ter) SNV Pathogenic 31233 rs387907147 GRCh37: 5:94876498-94876498
GRCh38: 5:95540794-95540794
5 TTC37 NM_014639.3(TTC37):c.2251C>T (p.Gln751Ter) SNV Pathogenic 31234 rs387907148 GRCh37: 5:94852890-94852890
GRCh38: 5:95517186-95517186
6 TTC37 NM_014639.3(TTC37):c.2515+1G>C SNV Pathogenic 31235 rs1060499528 GRCh37: 5:94852375-94852375
GRCh38: 5:95516671-95516671
7 TTC37 NM_014639.3(TTC37):c.4620+1G>C SNV Pathogenic 31237 rs370373017 GRCh37: 5:94803569-94803569
GRCh38: 5:95467865-95467865
8 SKIV2L NM_006929.5(SKIV2L):c.2341-2A>G SNV Pathogenic 561107 rs781763471 GRCh37: 6:31934779-31934779
GRCh38: 6:31967002-31967002
9 TTC37 NM_014639.3(TTC37):c.409C>T (p.Arg137Ter) SNV Pathogenic 561159 rs776321294 GRCh37: 5:94876528-94876528
GRCh38: 5:95540824-95540824
10 SKIV2L NM_006929.5(SKIV2L):c.3561_3581del (p.Ser1189_Leu1195del) Deletion Pathogenic 800925 rs1582192007 GRCh37: 6:31937310-31937330
GRCh38: 6:31969533-31969553
11 SKIV2L NM_006929.5(SKIV2L):c.904C>T (p.Gln302Ter) SNV Pathogenic 869409 GRCh37: 6:31929438-31929438
GRCh38: 6:31961661-31961661
12 SKIV2L NM_006929.5(SKIV2L):c.2662_2663del (p.Arg888fs) Deletion Pathogenic 869410 GRCh37: 6:31935570-31935571
GRCh38: 6:31967793-31967794
13 TTC37 NM_014639.4(TTC37):c.2662C>T (p.Gln888Ter) SNV Pathogenic 816870 rs1269943135 GRCh37: 5:94850600-94850600
GRCh38: 5:95514896-95514896
14 SKIV2L NM_006929.5(SKIV2L):c.1635_1636insA (p.Gly546fs) Insertion Pathogenic 30071 rs1562659544 GRCh37: 6:31931498-31931499
GRCh38: 6:31963721-31963722
15 TTC37 NM_014639.3(TTC37):c.2808G>A (p.Trp936Ter) SNV Pathogenic 196135 rs534237033 GRCh37: 5:94848293-94848293
GRCh38: 5:95512589-95512589
16 AGK NM_018238.4(AGK):c.409C>T (p.Arg137Ter) SNV Pathogenic 209130 rs746709222 GRCh37: 7:141313964-141313964
GRCh38: 7:141614164-141614164
17 SKIV2L NM_006929.5(SKIV2L):c.3187C>T (p.Arg1063Ter) SNV Pathogenic 1027691 GRCh37: 6:31936654-31936654
GRCh38: 6:31968877-31968877
18 SKIV2L NM_006929.5(SKIV2L):c.848G>A (p.Trp283Ter) SNV Pathogenic 30069 rs751026211 GRCh37: 6:31929382-31929382
GRCh38: 6:31961605-31961605
19 SKIV2L NM_006929.5(SKIV2L):c.235C>T (p.Arg79Ter) SNV Pathogenic 1033166 GRCh37: 6:31927895-31927895
GRCh38: 6:31960118-31960118
20 SKIV2L NM_006929.5(SKIV2L):c.2977dup (p.Met993fs) Duplication Likely pathogenic 689443 rs1582187890 GRCh37: 6:31936222-31936223
GRCh38: 6:31968445-31968446
21 TTC37 NM_014639.4(TTC37):c.1221+1G>C SNV Likely pathogenic 931346 GRCh37: 5:94861290-94861290
GRCh38: 5:95525586-95525586
22 SKIV2L NM_006929.5(SKIV2L):c.1404-2A>G SNV Likely pathogenic 929470 GRCh37: 6:31931188-31931188
GRCh38: 6:31963411-31963411
23 SKIV2L NM_006929.5(SKIV2L):c.1647+1G>A SNV Likely pathogenic 929471 GRCh37: 6:31931511-31931511
GRCh38: 6:31963734-31963734
24 TTC37 NM_014639.3(TTC37):c.2578-7_2578-3del Deletion Likely pathogenic 31236 rs746874042 GRCh37: 5:94852116-94852120
GRCh38: 5:95516412-95516416
25 SKIV2L NM_006929.5(SKIV2L):c.1297C>T (p.Arg433Cys) SNV Likely pathogenic 828128 rs750250320 GRCh37: 6:31930762-31930762
GRCh38: 6:31962985-31962985
26 TTC37 NM_014639.4(TTC37):c.4175_4176dup (p.Val1393fs) Duplication Likely pathogenic 800979 rs1582849711 GRCh37: 5:94818212-94818213
GRCh38: 5:95482508-95482509
27 TTC37 NM_014639.4(TTC37):c.4070del (p.Pro1357fs) Deletion Likely pathogenic 804452 rs1582849807 GRCh37: 5:94818319-94818319
GRCh38: 5:95482615-95482615
28 TTC37 NM_014639.3(TTC37):c.3272del (p.Ile1090_Leu1091insTer) Deletion Likely pathogenic 689648 rs752052886 GRCh37: 5:94838653-94838653
GRCh38: 5:95502949-95502949
29 TTC37 NM_014639.4(TTC37):c.772C>T (p.Gln258Ter) SNV Likely pathogenic 666990 rs1580193741 GRCh37: 5:94865913-94865913
GRCh38: 5:95530209-95530209
30 SKIV2L NM_006929.5(SKIV2L):c.757C>T (p.Arg253Ter) SNV Conflicting interpretations of pathogenicity 631978 rs768503878 GRCh37: 6:31929131-31929131
GRCh38: 6:31961354-31961354
31 TTC37 NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) SNV Conflicting interpretations of pathogenicity 235756 rs116690692 GRCh37: 5:94818202-94818202
GRCh38: 5:95482498-95482498
32 TTC37 NM_014639.4(TTC37):c.3875C>G (p.Thr1292Ser) SNV Uncertain significance 703690 rs138956788 GRCh37: 5:94826668-94826668
GRCh38: 5:95490964-95490964
33 TTC37 NM_014639.3(TTC37):c.4310G>T (p.Ser1437Ile) SNV Uncertain significance 626193 rs755895621 GRCh37: 5:94814049-94814049
GRCh38: 5:95478345-95478345
34 SKIV2L NM_006929.5(SKIV2L):c.3316G>C (p.Glu1106Gln) SNV Uncertain significance 1027692 GRCh37: 6:31936783-31936783
GRCh38: 6:31969006-31969006
35 TTC37 NM_014639.4(TTC37):c.1413A>G (p.Thr471=) SNV Uncertain significance 1030337 GRCh37: 5:94860208-94860208
GRCh38: 5:95524504-95524504
36 TTC37 NM_014639.4(TTC37):c.1733G>T (p.Gly578Val) SNV Uncertain significance 1030338 GRCh37: 5:94858930-94858930
GRCh38: 5:95523226-95523226
37 TTC37 NM_014639.4(TTC37):c.1796A>G (p.Asn599Ser) SNV Uncertain significance 1030339 GRCh37: 5:94857973-94857973
GRCh38: 5:95522269-95522269
38 TTC37 NM_014639.4(TTC37):c.2125C>T (p.His709Tyr) SNV Uncertain significance 1030340 GRCh37: 5:94853016-94853016
GRCh38: 5:95517312-95517312
39 TTC37 NM_014639.4(TTC37):c.4382A>G (p.Asp1461Gly) SNV Uncertain significance 1030341 GRCh37: 5:94805598-94805598
GRCh38: 5:95469894-95469894
40 TTC37 NM_014639.4(TTC37):c.4460A>G (p.Gln1487Arg) SNV Uncertain significance 1030342 GRCh37: 5:94805520-94805520
GRCh38: 5:95469816-95469816
41 TTC37 NM_014639.4(TTC37):c.829G>A (p.Gly277Ser) SNV Uncertain significance 1030343 GRCh37: 5:94865856-94865856
GRCh38: 5:95530152-95530152
42 SKIV2L NM_006929.5(SKIV2L):c.2704G>A (p.Val902Met) SNV Uncertain significance 906410 GRCh37: 6:31935612-31935612
GRCh38: 6:31967835-31967835
43 SKIV2L NM_006929.5(SKIV2L):c.2731+14A>C SNV Uncertain significance 906411 GRCh37: 6:31935653-31935653
GRCh38: 6:31967876-31967876
44 SKIV2L NM_006929.5(SKIV2L):c.1927C>T (p.Leu643Phe) SNV Uncertain significance 904017 GRCh37: 6:31932075-31932075
GRCh38: 6:31964298-31964298
45 SKIV2L NM_006929.5(SKIV2L):c.1965G>C (p.Leu655=) SNV Uncertain significance 904018 GRCh37: 6:31932113-31932113
GRCh38: 6:31964336-31964336
46 SKIV2L NM_006929.5(SKIV2L):c.2052C>G (p.His684Gln) SNV Uncertain significance 904019 GRCh37: 6:31933640-31933640
GRCh38: 6:31965863-31965863
47 SKIV2L NM_006929.5(SKIV2L):c.990C>T (p.Val330=) SNV Uncertain significance 905832 GRCh37: 6:31929757-31929757
GRCh38: 6:31961980-31961980
48 SKIV2L NM_006929.5(SKIV2L):c.1020T>C (p.Val340=) SNV Uncertain significance 905833 GRCh37: 6:31929787-31929787
GRCh38: 6:31962010-31962010
49 SKIV2L NM_006929.5(SKIV2L):c.2442G>C (p.Trp814Cys) SNV Uncertain significance 905890 GRCh37: 6:31934882-31934882
GRCh38: 6:31967105-31967105
50 SKIV2L NM_006929.5(SKIV2L):c.2464C>G (p.Gln822Glu) SNV Uncertain significance 905891 GRCh37: 6:31934904-31934904
GRCh38: 6:31967127-31967127

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

72
# 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

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 CMG complex GO:0071162 8.96 MCM4 GINS1
2 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 RNA catabolic process GO:0006401 9.32 TTC37 SKIV2L
2 tRNA aminoacylation GO:0043039 9.26 EPRS1 AARS1
3 immunoglobulin mediated immune response GO:0016064 9.16 CD27 CD19
4 DNA strand elongation involved in DNA replication GO:0006271 8.96 MCM4 GINS1
5 tRNA aminoacylation for protein translation GO:0006418 8.8 WARS2 EPRS1 AARS1

Molecular functions related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.5 WARS2 SKIV2L MCM4 MAP3K14 EPRS1 AGK
2 ligase activity GO:0016874 9.33 WARS2 EPRS1 AARS1
3 aminoacyl-tRNA ligase activity GO:0004812 8.8 WARS2 EPRS1 AARS1

Sources for Trichohepatoenteric Syndrome 1

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