Autosomal Dominant & Colonoscopy Abnormal & Pediatric Disorder: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant, Colonoscopy Abnormal, Pediatric Disorder,

Negated

None

Unsure

None

Possible Causes

Familial Adenomatous Polyposis

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]

Most people will not have to return for a follow-up colonoscopy for at least five years, and possibly longer. [health.harvard.edu]

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

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]

No abnormalities were detected on oesophago gastroduodenoscopy. [afrjpaedsurg.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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Peutz-Jeghers Syndrome

[…] 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]

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased [ncbi.nlm.nih.gov]

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Juvenile Polyp

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]

[…] in metastatic colon cancer which has spread to the liver Computed tomography (CT) scan of the abdomen and pelvis Screening colonoscopy with biopsy to determine the type and [dovemed.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

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]

Besides genetic testing, colonoscopy and X-Ray of the long bones and jaw bone are the routine examinations to diagnose Gardner syndrome. [news-medical.net]

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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Coxa Vara

Abstract Developmental coxa vara (DCV) is a well-known pediatric hip disorder that is associated with triplanar deformity of the proximal femur. [ncbi.nlm.nih.gov]

This allows the doctor to directly look at the colon for abnormalities and signs of damage. [medicalnewstoday.com]

Congital, progressive autosomal dominant developmental disorder, or a result of trauma, LCP diesae, SCFE, metabolic disorder, or neoplasm. [eorif.com]

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Ehlers-Danlos Syndrome

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

camera tests (endoscopy) on the upper and lower gut respectively, to rule out any inflammation or structural abnormalities. [web.archive.org]

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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Adenomatous Colon Polyp

Classifying complex pediatric feeding disorders. J Pediatr Gastroenterol Nutr. 1998 Aug;27(2):143-7. CBO. Multidisciplinaire richtlijn eetstoornissen. [richtlijnendatabase.nl]

A 52-year-old man with no personal or family history of colon cancer, colonic polyps, or inflammatory bowel disease underwent a screening colonoscopy that showed no abnormalities [nejm.org]

Increased risk of ovarian, breast, and pancreatic cancer Juvenile polyposis syndrome (JPS) Etiology: autosomal dominant with incomplete penetrance Clinical features: Onset [amboss.com]

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Common Variable Immunodeficiency

Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009; 154(6): 888-94. PubMed Wilmott RW. [arupconsult.com]

In an endoscopic study of patients with CVID by Khodadad et al,18 4 of 5 patients (80%) who underwent colonoscopy had friable mucosae and abnormal vascular patterns similar [archivesofpathology.org]

dominant PIK3CD Autosomal dominant PIK3R1 Autosomal dominant PLCG2 Autosomal dominant PRKCD Autosomal recessive RAC2 Autosomal recessive STAT3 Autosomal dominant; autosomal [invitae.com]

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Familial Mediterranean Fever

[…] doi: 10.1097/BOR.0000000000000315 PEDIATRIC AND HERITABLE DISORDERS: Edited by Polly J. [journals.lww.com]

Upper endoscopy and colonoscopy performed at this hospital revealed no significant abnormal findings. [ncbi.nlm.nih.gov]

[…] that mimics autosomal dominant inheritance. [ghr.nlm.nih.gov]

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Selective IgA Immunodeficiency

Source: Pediatrics, 1966 and Immunologic disorders in infants and children, by E. Richard Stiehm, Hans D. Ochs, Jerry A. Winkelstein. [allergycases.blogspot.com]

Three inappropriately managed patients underwent a colonoscopy and, as described above, 2 were abnormal. [doi.org]

It may be inherited as an autosomal dominant or autosomal recessive trait. It is usually found in people of European origin. [nlm.nih.gov]

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Cronkhite-Canada Syndrome

Adds five new chapters including "Screening and Surveillance of the GI Tract", "Congenital and Developmental Disorders of the GI Tract", "Pediatric Enteropathies of the GI [books.google.com]

Here, we report a case of Cronkhite-Canada syndrome with cecal intussusception relieved by colonoscopy. [ncbi.nlm.nih.gov]

dominant, 75% are new mutations without family history The gastrointestinal polyps are largely indistinguishable Cronkhite-Canada Syndrome Cowden Disease Hair, nail, skin [surgpathcriteria.stanford.edu]

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Anemia

One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself. [childrenshospital.org]

You also may undergo colonoscopy to look for bleeding tumors, and other problems in the large intestine. [radiologyinfo.org]

ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance [orpha.net]

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Migraine

[…] mechanisms that may explain the association between the two disorders, and the effects of treatment. [ncbi.nlm.nih.gov]

More advanced imaging and procedures may be necessary, such as a CT scan, upper endoscopy, colonoscopy, barium enema, or MRI. [en.wikipedia.org]

Analysis of 31 families with an apparently autosomal-dominant transmission of migraine with aura in the nuclear family. [ncbi.nlm.nih.gov]

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Lactose Intolerance

Lactose Intolerance, in Pediatric Nutrition in Chronic Diseases and Developmental Disorders, 2nd ed. Walberg Ekvall S and Ekvall VK, eds. [labtestsonline.org]

Before the hydrogen breath test, tell your doctor if: You have just had a colonoscopy ; if so, you will need to wait a few weeks after the colonoscopy before this test can [webmd.com]

The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient [ghr.nlm.nih.gov]

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Iron Deficiency Anemia

Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital. [childrenshospital.org]

Colonoscopy to look for bleeding or other abnormalities, such as growths or cancer of the lining of the colon. [nhlbi.nih.gov]

The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload. [ncbi.nlm.nih.gov]

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Hirschsprung's Disease

[…] of variable length; see Behrman [Nelson textbook of pediatrics, 1992:954-956]. [ncbi.nlm.nih.gov]

[…] may be performed if an abnormality in the colon like a tumor is suspected.[13] Other tests rarely ordered include anorectal manometry, anal sphincter electromyography, and [en.wikipedia.org]

An autosomal dominant gene causing this disease was recently mapped to chromosome 10q11.2 (refs 1,2), using an interstitial deletion of this region isolated in a cell hybrid [ncbi.nlm.nih.gov]

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X-Linked Agammaglobulinemia

Pediatr., v.51, n.3, p.235- 40, sep. 1999. PUNK, J. M. Prenatal Diagnosis and Generic Analysis of X-Linked Immunodeficiency Disorders. Pediatr. [passeidireto.com]

Besides genetic testing, colonoscopy and X-Ray of the long bones and jaw bone are the routine examinations to diagnose Gardner syndrome. [news-medical.net]

6, Autosomal Recessive Agammaglobulinemia 7, Autosomal Recessive Agammaglobulinemia 8, Autosomal Dominant Agammaglobulinemia, Microcephaly, and Severe Dermatitis Agammaglobulinemia [rgd.mcw.edu]

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Colonic Angiodysplasia

Major sections discuss today's equipment and describe interventions for specific disorders of each organ system, as well as for trauma, pediatric diseases, abscess drainage [books.google.com]

No abnormality was detected on digital rectal examination. Abdomino-pelvic ultra- sonography showed normal findings. [njcponline.com]

Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal dominant disorder that causes multiple vascular lesions in various parts of the body, including [merckmanuals.com]

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Brandt Syndrome

Acrodermatitis enteropathica is a rare genetic disorder, especially in pediatric and dermatology clinics. [streetdirectory.com]

[…] may be performed if an abnormality in the colon like a tumor is suspected.[13] Other tests rarely ordered include anorectal manometry, anal sphincter electromyography, and [en.wikipedia.org]

Mutations in this transporter cause transient neonatal zinc deficiency (TNZD) with symptoms similar to AE but with autosomal dominant inheritance. [ncbi.nlm.nih.gov]

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Familial Hypercholesterolemia Type 1

[…] in the Pediatric and Adolescent Male 276 Male Reproductive Disorders in Adults 301 V MINERAL DISORDERS 333 Metabolic Bone Disease 362 Common Bone and Mineral Disorders of [books.google.de]

Besides genetic testing, colonoscopy and X-Ray of the long bones and jaw bone are the routine examinations to diagnose Gardner syndrome. [news-medical.net]

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol [ncbi.nlm.nih.gov]

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Lynch Syndrome

Abstract Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers [ncbi.nlm.nih.gov]

Most colorectal cancers start as precancerous polyps, or abnormal growths in the colon or rectum, that can be removed during a colonoscopy before they develop into cancer. [cdc.gov]

Summary Currarino syndrome is a rare autosomal dominant disorder and the human homeobox gene, HLXB9, is the major causative locus. [jmg.bmj.com]

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Acquired Adrenogenital Syndrome

In the Pediatric Endocrinology section, our interdisciplinary team headed by Professor Dr. [heidelberg-university-hospital.com]

Abnormal, Colostomy, Coma, Coma Hepatic, Communication Disorder, Complement Factor C3 Increased, Complement Factor Decreased, Complement Factor Increased, Completed Suicide [bonkersinstitute.org]

Dominant Compelling Helio-ophthalmic Outburst [syndrome] ACL Acromegaloid Features, Cutis Verticis Gyrata, Corneal Leukoma (syndrome) ACL Access Control List; Achievement [medicabbreviations.com]

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Cystic Fibrosis

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

The goal of a colonoscopy is to identify and remove as many polyps as possible. Watch Mark B. [cff.org]

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

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Intestinal Polyposis

If any abnormalities are detected, a colonoscopy is needed. [webmd.com]

Hereditary hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome (also autosomal dominant) are characterized by less frequent polyps. [ncbi.nlm.nih.gov]

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Inflammatory Bowel Disease Type 1

Pediatr Pulmonol. 2017 Oct;52(10):E64-E66. doi: 10.1002/ppul.23717. Epub 2017 May 10. [ncbi.nlm.nih.gov]

[…] or colonoscopy procedure could miss. [pillcamcrohns.com]

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Malabsorption Syndrome

Pathogenesis of Celiac Disease As already mentioned, CD is an autoimmune disorder occurring in genetically susceptible individuals, who reveal certain human leukocyte antigen [pubs.sciepub.com]

Colonoscopy is necessary in colonic and ileal disease. ERCP will show pancreatic and biliary structural abnormalities. [en.wikipedia.org]

Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer [ghr.nlm.nih.gov]

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Marfan Syndrome

Balance and Vestibular Disorders Clinic Digestive Health Pediatric Endoscopy Surgery Pediatric General Surgery Digestive Health Pediatric Liver Center Pharmacy Services Surgery [childrenscolorado.org]

[…] in persons at risk for familial colon cancer followed by surgical removal of the colon at the first signs of disease.… joint disease: Congenital and hereditary abnormalities [britannica.com]

It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for 90% of autosomal dominant cases of MFS. [ncbi.nlm.nih.gov]

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Congenital Intestinal Duplication

Repeated contrast gastrointestinal radiography and colonoscopy identified clinically insignificant results. [wjgnet.com]

Camptodactyly may occur sporadically, de novo or by autosomal dominant inheritance. [intechopen.com]

Tc-99m pertechnetate scintigraphy also showed a cluster of strip-like abnormal radioactivity in the right lower quadrant (Figure 2). [wjgnet.com]

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Congenital Malrotation of the Colon

[…] bile duct disorders. [books.google.it]

An abdominal ultrasound study and a full colonoscopy were performed and revealed no abnormal findings. [scielo.br]

BRANCHIOOTORENAL SYNDROME 1; BOR1 Is also known as branchiootorenal dysplasia, melnick-fraser syndrome;branchiootorenal syndrome Related symptoms: Autosomal dominant inheritance [mendelian.co]

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