THES1
MCID: TRC086
MIFTS: 48

Trichohepatoenteric Syndrome 1 (THES1) malady

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

Aliases & Classifications for Trichohepatoenteric Syndrome 1

Aliases & Descriptions for Trichohepatoenteric Syndrome 1:

Name: Trichohepatoenteric Syndrome 1 54 39 24 66 29 13
Trichohepatoenteric Syndrome 50 25 56 29 69
Syndromic Diarrhea 39 50 25 56 66
Tricho-Hepato-Enteric Syndrome 39 50 25 56
Sd/the 50 25 56
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa 24 25
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome 50 56
Intractable Diarrhea with Phenotypic Anomalies 25 66
Phenotypic Diarrhea of Infancy 25 66
Phenotypic Diarrhea 50 56
Diarrhea, Syndromic 24 25
Thes1 24 66
Fatal Infantile Diarrhea with Trichorrhexis Nodosa 66
Syndromatic Diarrhea 50
Thes 25

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
trichohepatoenteric syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 222470
Orphanet 56 ORPHA84064
MedGen 40 C1857276
MeSH 42 D003968

Summaries for Trichohepatoenteric Syndrome 1

NIH Rare Diseases : 50 trichohepatoenteric syndrome is a condition that affects the hair, liver, and intestines. the condition is characterized by chronic diarrhea that begins during the first six months after birth. continued diarrhea can lead to an inability to gain weight (failure to thrive). trichohepatoenteric syndrome also causes liver disease such as cirrhosis (chronic liver damage) or hepatomegaly (swollen liver). affected individuals may have wooly or patchy hair. tirchohepatoenteric syndrome is caused by mutations in ttc37or skiv2l and is inherited in an autosomal recessive manner. the condition can be diagnosed by clinical examination and confirmed by genetic testing.treatment options include nutrition through an iv (parenteral nutrition). last updated: 1/31/2017

MalaCards based summary : Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to trichohepatoenteric syndrome 2 and congenitally corrected transposition of the great arteries, and has symptoms including diarrhea, hypertelorism and low-set ears. An important gene associated with Trichohepatoenteric Syndrome 1 is TTC37 (Tetratricopeptide Repeat Domain 37), and among its related pathways/superpathways is Deadenylation-dependent mRNA decay. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and placenta.

Genetics Home Reference : 25 Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life.

OMIM : 54 Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic... (222470) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely... more...

Related Diseases for Trichohepatoenteric Syndrome 1

Diseases in the Trichohepatoenteric Syndrome 1 family:

Trichohepatoenteric Syndrome 2

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

(show top 50) (show all 843)
id Related Disease Score Top Affiliating Genes
1 trichohepatoenteric syndrome 2 12.2
2 congenitally corrected transposition of the great arteries 11.9
3 sudden infant death with dysgenesis of the testes syndrome 11.9
4 avascular necrosis of the femoral head 11.8
5 primary angiitis of the central nervous system 11.8
6 agenesis of the corpus callosum with peripheral neuropathy 11.8
7 ossification of the posterior longitudinal ligament of spine 11.8
8 maturity-onset diabetes of the young 11.8
9 transposition of the great arteries 11.8
10 transposition of the great arteries, dextro-looped 1 11.8
11 osteonecrosis of the jaw 11.8
12 granulosa cell tumor of the ovary 11.8
13 dextro-looped transposition of the great arteries 11.7
14 adenosarcoma of the uterus 11.7
15 agenesis of the dorsal pancreas 11.7
16 maturity-onset diabetes of the young, type viii 11.7
17 preterm premature rupture of the membranes 11.7
18 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.7
19 littoral cell angioma of the spleen 11.7
20 anomalous left coronary artery from the pulmonary artery 11.7
21 macrodactyly of the hand 11.7
22 glassy cell carcinoma of the cervix 11.7
23 hypertrophy of the breast, juvenile 11.7
24 maturity-onset diabetes of the young 6 11.7
25 superficial siderosis of the central nervous system 11.7
26 condensing osteitis of the clavicle 11.7
27 maturity-onset diabetes of the young, type vii 11.7
28 transient bullous of the newborn 11.7
29 maturity-onset diabetes of the young, type ix 11.7
30 papillary tumor of the pineal region 11.7
31 azygos continuation of the inferior vena cava 11.7
32 jessner's lymphocytic infiltration of the skin 11.7
33 maturity-onset diabetes of the young, type 11 11.7
34 maturity-onset diabetes of the young, type 10 11.6
35 angiosarcoma of the scalp 11.6
36 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.6
37 hypotrichosis simplex of the scalp 11.6
38 mononeuropathy of the median nerve, mild 11.6
39 maturity-onset diabetes of the young, type 14 11.6
40 juxtaposition of the atrial appendages 11.6
41 transient tyrosinemia of the newborn 11.6
42 congenital absence of the vas deferens 11.6
43 maturity-onset diabetes of the young, type 13 11.6
44 neuroendocrine carcinoma of the cervix 11.6
45 transient hyperammonemia of the newborn 11.6
46 multiple fibroadenomas of the breast 11.6
47 small cell carcinoma of the bladder 11.6
48 prostate cancer 11.6
49 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.6
50 congenital pseudoarthrosis of the tibia 11.6

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



Diseases related to Trichohepatoenteric Syndrome 1

Symptoms & Phenotypes for Trichohepatoenteric Syndrome 1

Symptoms by clinical synopsis from OMIM:

222470

Clinical features from OMIM:

222470

Human phenotypes related to Trichohepatoenteric Syndrome 1:

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

UMLS symptoms related to Trichohepatoenteric Syndrome 1:


infantile diarrhea, thin, sparse hair

Drugs & Therapeutics for Trichohepatoenteric Syndrome 1

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

(show top 50) (show all 888)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
3
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
4
Cisplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 15663-27-1 84093 441203 2767
5
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
6
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
7
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
8
Ticagrelor Approved Phase 4 274693-27-5 9871419
9
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
10
Artemether Approved Phase 4 71963-77-4 119380 68911
11
Lumefantrine Approved Phase 4 82186-77-4 6437380
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 22916-47-8 4189
13
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
14
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
15
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61825-94-3 5310940 9887054 6857599, 9887054 43805
16
Vancomycin Approved Phase 4,Phase 3 1404-90-6 441141 14969
17
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
18
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
19
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 216974-75-3
20
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
21
Misoprostol Approved Phase 4,Phase 3 59122-46-2 5282381
22
Amoxicillin Approved, Vet_approved Phase 4,Phase 2 26787-78-0 33613 2171
23
Clarithromycin Approved Phase 4,Phase 2 81103-11-9 84029
24
Melphalan Approved Phase 4,Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
25
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-02-2 5743
26
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
27
Etanercept Approved, Investigational Phase 4,Phase 2,Phase 1 185243-69-0
28
Acetaminophen Approved Phase 4,Phase 2,Phase 3,Phase 1 103-90-2 1983
29
Menthol Approved Phase 4,Phase 1 2216-51-5 16666
30
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 2078-54-8 4943
31
Remifentanil Approved Phase 4 132875-61-7 60815
32
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
33
Liraglutide Approved Phase 4 204656-20-2
34
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
35
Cobicistat Approved Phase 4 1004316-88-4
36
Emtricitabine Approved, Investigational Phase 4,Phase 2,Phase 1 143491-57-0 60877
37
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
38
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 1 54-31-9 3440
39
Spironolactone Approved Phase 4,Phase 2 1952-01-7, 52-01-7 5833
40
Zoledronic acid Approved Phase 4 118072-93-8 68740
41
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
42
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
43
Terbutaline Approved Phase 4 23031-25-6 5403
44
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Early Phase 1 347396-82-1 459903
45
Pantoprazole Approved Phase 4 102625-70-7 4679
46
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
47
Salicylic acid Approved, Vet_approved Phase 4 69-72-7 338
48 sodium fluoride Approved Phase 4 7681-49-4
49
Allopurinol Approved Phase 4 315-30-0 2094
50
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177

Interventional clinical trials:

(show top 50) (show all 1124)
id Name Status NCT ID Phase
1 Prednisolone Priming Study in Patients With Chronic Hepatitis B Unknown status NCT00778596 Phase 4
2 Cardiopulmonary Capacity in Elderly With Different Ranges of Serum Thyroid Stimulating Hormone Unknown status NCT01849861 Phase 4
3 Study of Concurrent Chemo-radiotherapy Combined With Recombinant Human Endostatin for Local Advanced Non-small Cell Lung Cancer (NSCLC) Unknown status NCT01211002 Phase 4
4 Gastrointestinal Tolerability of MMF vs EC-MPS in Maintenance Transplant Patients Treated With Calcineurin Inhibitors Unknown status NCT00611494 Phase 4
5 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4
6 Long Acting FSH Plus Antagonist Versus Daily FSH Plus Antagonist Versus Short Agonist Protocol in Poor Responders Undergoing IVF Unknown status NCT02070198 Phase 4
7 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4
8 Desmopressin Melt Therapy in Nocturnal Polyuria Patients: Pharmacodynamic Study Unknown status NCT01439997 Phase 4
9 Sternal Closure With Biologic Bone Cement in Patients Undergoing Coronary Artery Bypass Grafting (CABG) Unknown status NCT01261858 Phase 4
10 Improving Anti-malarial Treatment Options in Guinea-Bissau - Part A Unknown status NCT01704508 Phase 4
11 Intralipid for Recurrent Miscarriage Unknown status NCT01788540 Phase 4
12 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
13 Treatment of Cheyne Stocks Respiration With Adaptive Servo Ventilation and Bilevel Ventilators in Patients With Chronic Heart Failure Unknown status NCT00725595 Phase 4
14 Safety and Efficacy of the Full Face Applications of Variable Doses of a Commercial Botulinum Toxin Type a (Dysport®) Unknown status NCT01032954 Phase 4
15 OPTIMOX1 in Chinese mCRC Patients Unknown status NCT01023633 Phase 4
16 Vancomycin Prophylaxis in Recurrent Clostridium Difficile Infection Unknown status NCT02237859 Phase 4
17 Effect of Adductor-Canal-Blockade on High Pain Responders After Total Knee Arthroplasty Completed NCT01549704 Phase 4
18 Early Assessment of the Response to Neo-adjuvant Chemotherapy in Breast Cancer Patients With FDG-PET Completed NCT00904410 Phase 4
19 Persistence of Hepatitis B Antibody Levels & Immune Response to a Hepatitis B Vaccine Challenge Completed NCT00411697 Phase 4
20 Remifentanil on Hemodynamic Response to Anesthesia Induction Completed NCT02763098 Phase 4
21 Impact of Liraglutide on Endothelial Function and Microvascular Blood Flow in Type 2 Diabetes Mellitus Completed NCT01208012 Phase 4
22 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4
23 An Open Label Trial of Stribild for Antiretroviral (ARV)-naïve HIV-2 Infected Adults in Dakar, Senegal Completed NCT02180438 Phase 4
24 Sodium-Restricted Diet and Diuretic in the Treatment of Severe Sleep Apnea Completed NCT01945801 Phase 4
25 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
26 Effect of Nervus Cutaneous Femoris Lateralis-Blockade on Moderate Pain Responders After Total Hip Arthroplasty Completed NCT02344264 Phase 4
27 Changes of GCF Levels of RANKL and Osteoprotegerin in Postmenopausal Osteoporosis Completed NCT02808988 Phase 4
28 Overall Performance of a 1-day Silicone Hydrogel Lens When Habitual Soft Lens Wearers Are Refit Completed NCT02588573 Phase 4
29 Clinical Use of an Absorbable Coated Suture Material in Surgery (Safil) Completed NCT00645684 Phase 4
30 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4
31 Pre-emptive Sciatic Bloc to Prevent Lower Limb Phantom Pain Completed NCT00528463 Phase 4
32 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4
33 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
34 Growing Future Physician Leaders: A Randomized Trial of an Educational Intervention in Postgraduate Trainees Completed NCT00286975 Phase 4
35 Use of Fissure Sealants on Primary Molars Completed NCT01438866 Phase 4
36 Does ALlopurinol Regress lefT Ventricular Hypertrophy in End Stage REnal Disease: The ALTERED Study Completed NCT01951404 Phase 4
37 Per-cutaneous Intervention Based Paclitaxel and Sirolimus-Eluting Versus Bare Stents for the Treatment of de Novo Coronary Lesions (PAINT) Completed NCT00752362 Phase 4
38 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women Completed NCT01628705 Phase 4
39 Effectiveness of Podiatry on Plantar Pain Completed NCT00888394 Phase 4
40 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4
41 Evaluation of The Effects of Nebivolol in Comparison to Atenolol on Wall Shear Stress and Rupture Prone Coronary Plaques Completed NCT01230892 Phase 4
42 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
43 Promoting Breast Cancer Screening in Non-adherent Women Completed NCT01332032 Phase 4
44 Vilazodone for Treatment of Geriatric Depression Completed NCT01608295 Phase 4
45 Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer's Disease Completed NCT00561392 Phase 4
46 Cortisone Injection vs Trigger Point Dry Needling Fin the Treatment of Greater Trochanter Pain Syndrome: A Pilot Study Completed NCT02639039 Phase 4
47 Nasal Budesonide Efficacy on Nasal FeNO in Children With Allergic Rhinitis Completed NCT02409563 Phase 4
48 Autonomic Correlates of Impulsivity for Preschool Children With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00856063 Phase 4
49 Respiratory Muscle Stretching in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00935181 Phase 4
50 Study to Determine a Preference Between Sildenafil or Tadalafil Treatment for Problems Getting an Erection Completed NCT00547352 Phase 4

Search NIH Clinical Center for Trichohepatoenteric Syndrome 1

Genetic Tests for Trichohepatoenteric Syndrome 1

Genetic tests related to Trichohepatoenteric Syndrome 1:

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

Anatomical Context for Trichohepatoenteric Syndrome 1

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 1:

39
Liver, Bone, Placenta, Pancreas

Publications for Trichohepatoenteric Syndrome 1

Variations for Trichohepatoenteric Syndrome 1

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

66
id Symbol AA change Variation ID SNP ID
1 TTC37 p.Gly251Arg VAR_067957 rs763816083
2 TTC37 p.Asp1283Asn VAR_067958
3 TTC37 p.Leu1505Ser VAR_067959 rs376720108

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TTC37 TTC37, IVS28AS, G-A, -2 single nucleotide variant Pathogenic
2 TTC37 NM_014639.3(TTC37): c.1632+1delG deletion Pathogenic rs1060499527 GRCh38 Chromosome 5, 95523654: 95523654
3 TTC37 NM_014639.3(TTC37): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic rs387907147 GRCh37 Chromosome 5, 94876498: 94876498
4 TTC37 NM_014639.3(TTC37): c.2251C> T (p.Gln751Ter) single nucleotide variant Pathogenic rs387907148 GRCh37 Chromosome 5, 94852890: 94852890
5 TTC37 NM_014639.3(TTC37): c.2515+1G> C single nucleotide variant Pathogenic rs1060499528 GRCh37 Chromosome 5, 94852375: 94852375
6 TTC37 NG_023414.1: g.43590_43594delTTTTT deletion Pathogenic rs746874042 GRCh38 Chromosome 5, 95516412: 95516416
7 TTC37 NM_014639.3(TTC37): c.4620+1G> C single nucleotide variant Pathogenic rs370373017 GRCh37 Chromosome 5, 94803569: 94803569
8 TTC37 NM_014639.3(TTC37): c.2808G> A (p.Trp936Ter) single nucleotide variant Pathogenic rs534237033 GRCh37 Chromosome 5, 94848293: 94848293

Expression for Trichohepatoenteric Syndrome 1

Search GEO for disease gene expression data for Trichohepatoenteric Syndrome 1.

Pathways for Trichohepatoenteric Syndrome 1

Pathways related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

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

GO Terms for Trichohepatoenteric Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 Ski complex GO:0055087 8.62 SKIV2L TTC37

Biological processes related to Trichohepatoenteric Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.62 SKIV2L TTC37

Sources for Trichohepatoenteric Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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