Autosomal Dominant & Pain & Pediatric Disorder: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant, Pain, Pediatric Disorder,

Negated

None

Unsure

None

Possible Causes

Familial Adenomatous Polyposis

A 38-year-old lady presented with abdominal pain, diarrhoea and iron deficiency anemia. There was no history of colorectal cancer in the family. [ncbi.nlm.nih.gov]

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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Hereditary Spherocytosis

A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. [ncbi.nlm.nih.gov]

The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number [touchoncology.com]

In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal. [emedicine.com]

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Acute Hepatic Porphyria

The cause of the pain was not determined. [cghjournal.org]

Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. [mayomedicallaboratories.com]

[…] porphyria* (VP) PPOX Autosomal dominant *Incomplete penetrance has been reported in all of the autosomal dominant acute hepatic porphyrias. [invitae.com]

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Osteogenesis Imperfecta

What is Known: • Acute and chronic musculoskeletal pain remains a major issue in OI. • Pain has a negative impact on quality of life. [ncbi.nlm.nih.gov]

Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden. [ncbi.nlm.nih.gov]

Most types are autosomal dominant and are associated with mutations in collagen type i Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. [icd9data.com]

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Facioscapulohumeral Muscular Dystrophy

These myalgic pains could be particularly difficult to control. [ncbi.nlm.nih.gov]

Complications of Neuromuscular Disorders. In Epp, Jr., CH & Bowen Jr., Complications in Pediatric Orthopaedic Surgery, 627-630,1995 Tachdjian M.O. [gait.aidi.udel.edu]

English facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. [wikidata.org]

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Epidermolysis Bullosa

The Pain Quality Assessment Scale (PQAS) is an adjusted version of the validated Neuropathic Pain Scale and includes 20 pain qualities and descriptors. [ncbi.nlm.nih.gov]

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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Blue Rubber Bleb Nevus Syndrome

Postoperatively her pain improved, and imaging revealed resolution of cord compression. [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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Cryopyrin-Associated Periodic Syndrome

We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. [ncbi.nlm.nih.gov]

Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre [ncbi.nlm.nih.gov]

The disease was inherited as an autosomal dominant trait. [ncbi.nlm.nih.gov]

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Spinal Osteochondrosis

He has provided relief from scoliosis and spinal pain to more than 8000 patients. [books.google.com]

(OBQ10.265) Which of the following pediatric congenital disorders is caused by a glycine substitution in the procollagen molecule? [orthobullets.com]

ORPHA:3135 Classification level: Disorder Synonym(s): Familial Scheuermann juvenile kyphosis Familial spinal osteochondrosis Prevalence: - Inheritance: Autosomal dominant [orpha.net]

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Camurati-Engelmann Syndrome

[…] of pain. [ncbi.nlm.nih.gov]

Pediatrics 1984 ; 74 : 399 –405. 3 Crisp AJ, Brenton DP. Engelmann's disease of bone—a systemic disorder? [academic.oup.com]

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. [ncbi.nlm.nih.gov]

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Erythropoietic Coproporphyria

Such episodes are often provoked by barbiturates, sulphonamides and other drugs, and include automatic symptoms (hypertension, tachycardia, abdominal pain, constipation), [ncbi.nlm.nih.gov]

Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. [mayomedicallaboratories.com]

dominant ) Hereditary coproporphyria ( autosomal dominant ) Doss porphyria ( autosomal recessive ) Chronic hepatic porphyrias Porphyria cutanea tarda ; ( autosomal dominant [amboss.com]

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Ehlers-Danlos Syndrome

Affected persons may also present with generalized body pain, fatigue, headaches, gastrointestinal pain, temporomandibular joint pain, dysmenorrhea, and vulvodynia. [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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Hereditary Coproporphyria

Chronic pain, REGARDLESS of it’s pathology, is REAL! [nationalpainreport.com]

Abstract Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria. [ncbi.nlm.nih.gov]

Abstract Hereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of the enzyme coproporphyrinogen oxidase [ncbi.nlm.nih.gov]

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Hypophosphatasia

A 32-year-old male was referred to our clinic complaining of pain in his elbows and knees. [ncbi.nlm.nih.gov]

Holm, Disorders of Bone Metabolism, Clinical Pediatric Endocrinology, (280-292), (2007). P. Bourin and M. [doi.org]

[…] recessive versus autosomal dominant transmission from among several hundred, usually missense, TNSALP mutations. [ncbi.nlm.nih.gov]

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Peutz-Jeghers Syndrome

Peutz-jeghers syndrome in a girl with chronic abdominal pain. Pak J Med Sci 2008;24(4):627-8. 1. Javad Ghoroubi, Assistant Prof. of Pediatric Surgery 2. [pjms.com.pk]

[…] 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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Familial Hypophosphatemia

A case of young man with low back ache and heel pains who was examined in a rheumatology outpatient and diagnosed as familial hypophosphatemia (FH), probably X-linked (XL) [ncbi.nlm.nih.gov]

Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. [rarediseases.org]

The ICD code E8331 is used to code Autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive [icd.codes]

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Channelopathy-Associated Congenital Insensitivity to Pain

Congenital pain insensitivity is a rare genetic disorder characterized by the inability to perceive pain. [symptoma.com]

This case report highlights the rare association of congenital insensitivity to pain and anhidrosis with seizure disorder. [content.iospress.com]

dominant or Autosomal recessive Age of onset: - ICD-10: G60.8 OMIM: 243000 UMLS: C0002768 C0020075 MeSH: D000699 D009477 GARD: 12267 MedDRA: - Summary An Orphanet summary [orpha.net]

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Juvenile Polyp

Common causes of abdominal pain in this age group include appendicitis, constipation, and pain secondary to nonspecific viral syndrome, acute gastroenteritis, strep pharyngitis [go.galegroup.com]

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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Inherited Neuropathy

Abstract Although the physiological basis of erythermalgia, an autosomal dominant painful neuropathy characterized by redness of the skin and intermittent burning sensation [ncbi.nlm.nih.gov]

dominant cerebellar ataxia (ADCA) in British population; (2) WES studies to identify mutations in patients with inherited neuropathies or autosomal recessive cerebellar ataxia [discovery.ucl.ac.uk]

These arthropathies were often painful, and overt loss of superficial and deep pain sensation was not a prominent or necessary condition. [ncbi.nlm.nih.gov]

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Gardner Syndrome

Computed tomography (CT) was used to evaluate six patients with Gardner syndrome who, after colectomy, complained either of abdominal pain or of palpable masses. [ncbi.nlm.nih.gov]

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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Depression

Depressive disorders may constitute a risk factor for vulvodynia and occur as a secondary condition to pain. [ncbi.nlm.nih.gov]

Neuroimaging of her brain suggested pathological changes out of keeping with her age, leading to further investigations including genetic testing for cerebral autosomal dominant [ncbi.nlm.nih.gov]

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Medullary Sponge Kidney

We are not all making it up just to get pain medication. It is not all inside our heads, and we haven’t all just pulled a muscle. Our pain is real. [themighty.com]

Renal dysplasia, hypoplasia and miscellaneous cystic disorders. In Barratt TM, Avner ED, Harmon WE, eds. Pediatr Nephrology. [link.springer.com]

Since its discovery, three pedigrees have been described in which an apparently autosomal dominant inheritance was suggested. [ncbi.nlm.nih.gov]

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Familial Mediterranean Fever

The pain attacks were prevented by continuous prophylactic therapy with colchicine. [ncbi.nlm.nih.gov]

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

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

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Congenital Liver Cyst

Pain in right upper abdomen, Lump in right upper abdomen, Fever, dyspepsia & Occasional jaundice What is the character of Liver Cysts pain? [drknsrivastava.com]

dominant polycystic liver disease (ADPLD) autosomal dominant polycystic kidney disease (ADPKD) congenital solitary nonparasitic cyst ( 12679872 ) hepatic biliary cysts hepatic [humpath.com]

Hepatomegaly was the most common symptom in neonates while the older children presented with abdominal pain. [ncbi.nlm.nih.gov]

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Coxa Vara

A full history of pain and mobility issues will be noted as well. [healthpages.org]

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]

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

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Preauricular Sinus or Pit

Pain : Your child will be given a pain medication to be taken for the first several days after surgery. [masseyeandear.org]

[…] and dermoid cysts; Inflammatory adenopathy; Disorders and tumors of the salivary glands; Intraoral and lingual lesions; and the Exit procedure. [books.google.ro]

Abstract We report on a novel autosomal dominant disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular [ncbi.nlm.nih.gov]

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X-Linked Hypophosphatemia

Conclusion: Children with XLH experience significant skeletal deformity with associated bone pain, joint pain, and joint stiffness that restrict range of motion, impair gait [bone-abstracts.org]

The FDA previously designated burosumab as a drug for a “rare pediatric disease”, enabling issuance of a priority review voucher if burosumab is approved. [selectscience.net]

BACKGROUND: Mutations in fibroblast growth factor 23 (FGF-23) cause autosomal dominant hypophosphatemic rickets. [ncbi.nlm.nih.gov]

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Myotonia Congenita

We present a family with dominantly inherited myotonia congenita and painful, electrically silent muscle contractions after exertion. [ncbi.nlm.nih.gov]

[…] symptoms in infants, children, and young adults through images of common and unusual presenting features for over 300 pediatric disorders. [euro-libris.ro]

METHODS: A family clinically diagnosed with autosomal dominant myotonia congenita was enrolled. [ncbi.nlm.nih.gov]

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Hypertrophic Interstitial Neuropathy

[…] common and rare spine pain conditions. [books.google.de]

dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2C Autosomal dominant [icdlist.com]

Dejerine-Roussy syndrome - see under Dejerine Roussy-Cornil syndrome - occasional lancinating pains, with peripheral weakness, fasciculation, visual disturbance, and ataxia [medical-dictionary.thefreedictionary.com]

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Migraine

Pain, 10.1016/j.pain.2013.07.021, 154, (S44-S53), (2013). [oadoi.org]

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

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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