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522 Possible Causes for Liver Disease, Pitt-Hopkins Syndrome

  • AMACR Deficiency

    Make optimal use of the newest techniques, technologies, and treatments with Sleisenger and Fordtran's Gastrointestinal and Liver Disease - the indispensable information source[] , noninsulin-dependent TCF4 Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome TCN2 Transcobalamin II deficiency TFR2 Hemochromatosis TIMM8A Jensen syndrome, Mohr-Tranebjaerg[] Their clinical picture, however, varied: they presented with coagulopathy, liver disease, cholestatic episodes and vitamin deficiency during the first days of their lives.[]

  • Hyperventilation

    A respiratory alkalosis is the commonest acid-base disorder found in patients with chronic liver disease.[] Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations.[] Aggravating Factors Underlying health conditions, such as: pregnancy, pneumonia, lung disease, asthma, cancer, fever, infections, liver disease and brain tumours, can also[]

  • Wolcott-Rallison Syndrome

    One child was treated by liver transplantation and had no liver disease and better diabetes control for the following 6 years.[] 302060 TBCE 1q42.3 Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome-1 244460 TCF4 18q21.2 Pitt-Hopkins syndrome 610954 TCIRG1 11q13.2 Osteopetrosis[] AIMS: To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. METHODS: Detailed ...[]

  • Aagenaes Syndrome

    Additionally, new chapters have been added to reflect the changing landscape of cholestatic liver disease.[] Pierpont syndrome pigment dispersion syndrome PILAROWSKI-BJORNSSON SYNDROME Pilotto Syndrome Pinheiro Freire-Maia Miranda Syndrome Piriformis Muscle Syndrome Pitt-Hopkins[] Readers will come away with a full overview of the diagnosis and treatment of cholestatic liver diseases.[]

  • Haddad Syndrome

    Pioglitazone might hardly ever cause liver disease.[] […] corneal dystrophy Pallister-Hall syndrome Pitt-Hopkins syndrome Primary sclerosing cholangitis Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Anhidrotic ectodermal[] Alcoholic liver disease. In: Feldman M, Friedman LS, Sleisenger LH, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease. 7 th ed. St. Louis: W.B.[]

  • X-linked Parkinsonism-Spasticity Syndrome

    It represents short periods of loss of muscle tone most commonly seen in liver disease patients with hepatic encephalopathy.[] Perry syndrome - a progressive brain disease resulting from mutation in the DCTN1 gene which codes for dynactin-1 Pitt-Hopkins syndrome - a rare, multi-symptomatic neurogenetic[] […] tumour types, epileptic encephalopathy FHIT (3p14.2) and WWOX (16q23.1) P071-LMNB1-PLP1-NOTCH3 Leukodystrophy LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 P075-TCF4-FOXG1 Pitt-Hopkins[]

  • Familial Hypercholesterolemia

    Given limitations in pharmacologic therapy and the significant morbidity and mortality associated with this disease, liver transplantation may be offered to select homozygous[] Syndrome 5 Pitt-Hopkins-like syndrome 2 6 Pituitary Adenoma, Growth Hormone-Secreting 1 Pituitary Dependent Hypercortisolism 1 Pituitary Hormone Deficiency, Combined 1 2[] Exclusion criteria were major surgery in the previous 3 months, congestive heart failure, history of liver disease or aminotransferase levels of more than three times the[]

  • Familial Infantile Myoclonic Epilepsy

    Xenazine should not be used in people with abnormally low blood pressure, depression, suicidal thoughts, Parkinson's disease, liver disease, or uncontrolled heart rhythm disorders[] Registry Pitt-Hopkins-Like Syndrome 1 CDFE Syndrome Cortical Dysplasia-Focal Epilepsy Syndrome PTHSL1 CDFES 610042 Genetic Test Registry Pitt-Hopkins-Like Syndrome 2 PTHSL2[] Hopkins syndrome 22934316 TSC1 Tuberous Sclerosis 20301399 TSC2 Tuberous Sclerosis 20301399 UBE3A Angelman syndrome 20301323 WDR45 X linked neurodegeneration with brain iron[]

  • Juvenile Polyposis Syndrome

    Consult the leading text in the field that delivers the information you need to diagnose and treat pediatric gastrointestinal and liver diseases effectively.[] Pitt-Hopkins Syndrome David A Sweetser, Ibrahim Elsharkawi, Lael Yonker, Marcie Steeves, Kimberly Parkin, and Ronald Thibert.[] Elsevier Health Sciences, ٢٩‏/١١‏/٢٠١٠ - 1104 من الصفحات Pediatric Gastrointestinal and Liver Disease, by Drs. Robert Wyllie and Jeffrey S.[]

  • Hereditary Late-Onset Parkinson Disease

    Besides Parkinson’s or late-onset Alzheimer’s disease, they include: celiac disease ; alpha-1 antitrypsin deficiency, which increases risk of lung and liver disease; a movement[] 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE 15 PITT-HOPKINS-LIKE SYNDROME TYPE[] It also tests for alpha-1 antitrypsin deficiency, which increases risk of lung and liver disease, and early onset primary dystonia, a movement disorder.[]

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