Autosomal Dominant & Gastrointestinal Hemorrhage & Pediatric Disorder: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant, Gastrointestinal Hemorrhage, Pediatric Disorder,

Negated

None

Unsure

None

Possible Causes

Familial Adenomatous Polyposis

hemorrhage, a history of cancer, active bacterial infection, use of dimethyl sulfoxide, a history of aspirin allergy, or a body weight of less than 20 kg. [nejm.org]

Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. [emedicine.medscape.com]

English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the [wikidata.org]

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Blue Rubber Bleb Nevus Syndrome

It is even a rare cause of gastrointestinal hemorrhage during childhood. We describe a 6-year-old boy who had multiple venous malformations all over his body. [ncbi.nlm.nih.gov]

Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric [floatinghospital.org]

"Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency [ncbi.nlm.nih.gov]

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Juvenile Polyp

Keywords : Polyps, Intestinal Polyposis, Adenoma, Gastrointestinal Hemorrhage, Colorectal Neoplasms, Humans. [casereports.in]

Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial. Clin Gastroenterol Hepatol 2005; 3 :264–270. 21. [nature.com]

An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic [ajol.info]

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Gardner Syndrome

Munchausen syndrome by proxy with massive proteinuria and gastrointestinal hemorrhage. Pediatric Nephrology, 19(7), 798–800. [dzieckokrzywdzone.fdds.pl]

Naylor and Emanuel Lebenthal Pediatrics February 1979, 63 (2) 222-227; Abstract Gardner's syndrome, an autosomal dominant disorder, consists of multiple polyposis of the colon [pediatrics.aappublications.org]

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps [ncbi.nlm.nih.gov]

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Hereditary Hemorrhagic Telangiectasia

Patients can suffer from recurrent nosebleeds and gastrointestinal hemorrhage. [symptoma.com]

The monoclonal antibody bevacizumab, seems to be a good option in this disorder. [ncbi.nlm.nih.gov]

BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. [ncbi.nlm.nih.gov]

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Peutz-Jeghers Syndrome

Gastrointestinal hemorrhage may not be apparent and may present as iron deficiency anemia. [emedicine.medscape.com]

[…] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ). [clincancerres.aacrjournals.org]

From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal [wikidata.org]

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Von Willebrand Disease

Summary Clinical description The disease manifests as mucocutaneous bleeding anomalies (menorrhagia, epistaxis, gastrointestinal hemorrhage etc. ). [orpha.net]

John Akabutu Comprehensice Centre for Bleeding Disorders – Pediatric Division Stollery Children’s Hospital Clinic Director Dr. [hemophilia.ca]

Type 2B von Willebrand disease is also an autosomal dominant trait. [emedicine.com]

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Ehlers-Danlos Syndrome

In 70% of cases, vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign. [ncbi.nlm.nih.gov]

The paucity of patients described so far makes this disorder poorly defined at clinical level. [ncbi.nlm.nih.gov]

DOMINANT EHLERS-DANLOS SYNDROME, TYPE V EHLERS-DANLOS SYNDROME, TYPE VI EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE [web.archive.org]

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Hemolytic Uremic Syndrome

[…] infection with EHEC may result in diarrhea or hemorrhagic colitis, followed in severe cases by HUS. 1 Although the bacteria are noninvasive, 5 virulence factors gain access [doi.org]

Rekha Hans, Satya Prakash, Ratti Ram Sharma and Neelam Marwaha, Role of therapeutic apheresis in pediatric disorders, Pediatric Hematology Oncology Journal, 10.1016/j.phoj [doi.org]

Both autosomal dominant and autosomal recessive forms of inheritance are observed. Autosomal recessive HUS often occurs early in childhood. [emedicine.medscape.com]

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Familial Pheochromocytoma

Hemorrhage 527 Chapter 26 The Anatomy Physiology and Differential Diagonsis of Acute Abdominal Pain 539 Chapter 27 Neoplastic Disorders of the Gastrointestinal Tract 555 [books.google.de]

Pediatric autonomic disorders. Pediatrics. 118, 309 (2006) S.M. Parikh et al., The nature of the autonomic dysfunction in multiple system atrophy. [charite.de]

dominant inheritance suggests that this tumor association is a genetically determined syndrome. [ncbi.nlm.nih.gov]

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Howell-Evans Syndrome

Symptoms of Howel-Evans syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of blood and blood-forming tissues Gastrointestinal hemorrhage [familydiagnosis.com]

Curr Opin Pediatr 2002; 14: 419-25 Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol 2003; 4: 347-64 Virtanen M, Smith SK, Gedde-Dahl T Jr, et al. [books.google.de]

Cutis. 2010 April;85(4):183-185 Howel-Evans syndrome is a rare form of palmoplantar keratoderma associated with esophageal cancer and is inherited in an autosomal dominant [mdedge.com]

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Cystic Fibrosis

Unfortunately, he succumbed to an acute upper gastrointestinal hemorrhage. [ncbi.nlm.nih.gov]

Children's is home to the leading pediatric pulmonology program in Georgia. [choa.org]

Besides, there was a rare association with autosomal dominant type of polycystic renal disease. [ncbi.nlm.nih.gov]

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Hemophilia

[…] and gastrointestinal hemorrhage. [content.nejm.org]

John Akabutu Comprehensice Centre for Bleeding Disorders – Pediatric Division Stollery Children’s Hospital Clinic Director Dr. [hemophilia.ca]

Its inheritance is autosomal dominant, which means that a parent with the gene has a 50/50 chance to pass it on. [stanfordchildrens.org]

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Dyskeratosis Congenita

Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from [pediatrics.aappublications.org]

The lifetime occurrence of any of these disorders in our study was 83% in pediatric subjects and 88% in adults. [ncbi.nlm.nih.gov]

PURPOSE: To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage [ncbi.nlm.nih.gov]

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Menkes Disease

We describe two infants with Menkes disease who had serious gastrointestinal bleeding from solitary gastric polyps. Hemorrhage in one patient was acute and proved fatal. [ncbi.nlm.nih.gov]

“Menkes disease is a rare and fatal pediatric disease, and patients with classic Menkes disease currently have no approved therapeutic options. [checkrare.com]

dominant 1 ELN Del Dup NGS Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA FBLN5 Del Dup NGS Cutis laxa, autosomal recessive 1B EFEMP2 Del Dup NGS Cutis laxa [ctgt.net]

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Wiskott Aldrich Syndrome

In 30% of cases, life-threatening gastrointestinal or intracranial hemorrhage can occur. Skin changes - Eczema in infancy and childhood is a constitutive feature of WAS. [symptoma.com]

[…] from Dana-Farber/Boston Children's Cancer and Blood Disorders Center. [sciencedaily.com]

dominant trait. [ashpublications.org]

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Acute Leukemia

Gastrointestinal hemorrhage: Bleeding into the stomach and/or intestines can result in vomiting large amounts of blood and a rapid drop in blood pressure. [verywellhealth.com]

Diseases Working Party of the EBMT, Barcelona, Spain. 22 University Hospital Frankfurt, Frankfurt, Germany. 23 Monacord, Centre Scientifique de Monaco, Monaco, France. [ncbi.nlm.nih.gov]

Most of the families show a pattern of inheritance consistent with a single gene mutation, inherited in an autosomal dominant manner. [dnatesting.uchicago.edu]

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Bernard-Soulier Syndrome

hemorrhage) Bernard-Soulier syndrome often causes more problems for women than men because of menstruation and childbirth. [wfh.org]

Giant platelet disorders in African-American children misdiagnosed as idiopathic thrombocytopenic purpura. J Pediatr Hematol Oncol 1999; 21:231-6. [informaticsjournals.com]

Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members. [ncbi.nlm.nih.gov]

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Congenital Hepatic Fibrosis

The proband, the only member of this family with symptoms referable to the disease, was hospitalized because of an upper gastrointestinal hemorrhage. [ncbi.nlm.nih.gov]

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014 Sep. 134 (3):e833-45. [Medline]. [emedicine.com]

autosomal-dominant polycystic kidney disease. [ncbi.nlm.nih.gov]

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Turner Syndrome

The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center. [ncbi.nlm.nih.gov]

NOONAN SYNDROME bears similarity to this disorder; however, it also occurs in males, has normal karyotype, and is inherited as an autosomal dominant. [definitions.net]

dominant. [fpnotebook.com]

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Stevens-Johnson Syndrome

hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency [web.archive.org]

dominant inheritance 0000006 Hearing impairment Deafness Hearing defect [ more ] 0000365 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Leukocytosis [rarediseases.info.nih.gov]

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Carbamoyl Phosphate Synthetase Deficiency

Laboratory evaluation of urea cycle disorders. J Pediatr. 2001 Jan. 138(1 Pt 2):S21-S29. Summar ML. [emedicine.medscape.com]

dominant dopa-responsive dystonia Autosomal dominant myoglobinuria Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and peripheral neuropathy [se-atlas.de]

Definition An autosomal recessive disorder of the urea cycle causing hyperammonemia. [uniprot.org]

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Zellweger Syndrome

Additional findings include small cysts on the kidneys and gastrointestinal bleeding due to deficiency of a coagulation factor in the blood. [rarediseases.org]

Peroxisomal disorders: A newly recognised group of genetic diseases. Eur J Pediatr 1986;144(5):430-40. Gould SJ, Raymond GV, Valle D. [acta.tums.ac.ir]

[…] neonatal, Refsum disease, Infantile Refsum disease, Infantile phytanic acid storage disease, Cerebrohepatorenal syndrome; CHR Autosomal recessive, autosomal dominant Peroxisome [centogene.com]

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Kallmann Syndrome

[…] stromal tumor) STPK AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) TGFBR1/TGFBR2 (Loeys–Dietz [en.wikipedia.org]

Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations. [ncbi.nlm.nih.gov]

Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms [ncbi.nlm.nih.gov]

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Epidermolysis Bullosa

hemorrhage at 5.8 months. [jamanetwork.com]

The EB-101 program has been granted Orphan Drug and Rare Pediatric Disease Designations from the FDA and Orphan Drug Designation from the EMA. [centerwatch.com]

The most common form of DEB is the autosomal dominant subtype, which is also the mildest form. [hindawi.com]

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Precursor-Cell Lymphoblastic Leukemia

I: The field of pediatrics -- pt. II: Growth, development and behavior -- pt. III: Behavioral and psychiatric disorders -- pt. IV: Learning disorders -- pt. [worldcat.org]

dominant patterns of inheritance.[2] Environmental risk factors[edit] The environmental exposures that contribute to emergence of ALL is contentious and a subject of ongoing [en.wikipedia.org]

Author information 1 Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 450 Brookline Avenue, D3-106, Boston, MA, 02450, USA. [ncbi.nlm.nih.gov]

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Congenital Neutropenia

Some case reports have described more critical manifestations such as aplastic anemia, hemorrhagic stroke, gastrointestinal bleeding, and persistent severe neutropenia.10– [pediatrics.aappublications.org]

Disease Working Parties of the European Society for Blood and Bone Marrow Transplantation (EBMT) and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE). [ncbi.nlm.nih.gov]

Our findings indicate that the father provided consistent haplotypes leading to the expression of SCN in all affected children, supporting an autosomal dominant inheritance [ncbi.nlm.nih.gov]

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Pseudopseudohypoparathyroidism

[…] stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 [en.wikipedia.org]

Germany J Pediatr 150:618-22, 622.e1-5. 2007 ..To analyze the frequencies and clinical presentation of definable somatic disorders in children who are overweight... [labome.org]

Pseudopseudohypoparathyroidism is a very rare autosomal dominant genetic disorder that is considered to be a variant of Albright's hereditary osteodystrophy. [symptoma.com]

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Familial Hypercholesterolemia

Erasmus MC, Rotterdam, The Netherlands. 3 Center for Lysosomal and Metabolic Disorders, Department of Pediatrics, Sophia Children's Hospital EMC, Rotterdam, The Netherlands [ncbi.nlm.nih.gov]

Abstract Familial hypercholesterolemia (FH) is characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and is inherited as an autosomal dominant trait [ncbi.nlm.nih.gov]

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Hemophilia B

hemorrhage Gastrointestinal bleeding 0002239 Osteoarthritis Degenerative joint disease 0002758 Persistent bleeding after trauma Excessive bleeding after minor trauma Frequent [rarediseases.info.nih.gov]

Steven Pipe, professor of pediatrics and pathology and pediatric medical director of the hemophilia and coagulation disorders program at the University of Michigan, had this [endpts.com]

In individuals with an SLC25A24 gene mutation, Gorlin-Chaudhry-Moss syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each [ghr.nlm.nih.gov]

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