Autosomal Dominant & Hemoglobin Decreased & Pediatric Disorder: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant, Hemoglobin Decreased, Pediatric Disorder,

Negated

None

Unsure

None

Possible Causes

Hereditary Spherocytosis

All experienced an increase in hemoglobin and decrease in reticulocyte count early after LPS and at last follow-up. Twenty-two were sent for genetic analysis. [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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Blue Rubber Bleb Nevus Syndrome

Pediatr Blood Cancer 2016 2–16 yo, cutaneous, GI tract, visceral and muscular lesions Decreased size of lesions, decreased pain, normalized hemoglobin 0.8 mg/m2 every 12 hour [hindawi.com]

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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Acute Hepatic Porphyria

Four new chapters cover anemias unique to the newborn period, pathology of LHC and other histiocytic disorders, tumors of the spleen, and pathology and classification of myeloproliferative [books.google.com]

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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Congenital Dyserythropoietic Anemia

Cord blood hemoglobin (Hb) at birth in full term infants is 16-17g/dL, does not decrease appreciably during the first week of life, and then declines slowly to a physiological [oncologynurseadvisor.com]

Hereditary Elliptocytosis and Related Disorders Pediatric Lead Toxicity Pediatric Megaloblastic Anemia Pediatric Myelodysplastic Syndrome Sickle Cell Anemia Transient Erythroblastopenia [emedicine.medscape.com]

Inherited • Autosomal dominant • Cause: uroporphyrinogen III decarboxylase e* • Urine: uroporphyrin III and uroporphyrin I • Feces: protoporphyrin, coproporphyrin 2. [quizlet.com]

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Cryopyrin-Associated Periodic Syndrome

Other blood tests could be taken and analyzed as well to see if a patient has leukocytosis (an increase in the number of white cells in the blood), anemia (a deficiency of [raregenomics.org]

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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Dyskeratosis Congenita

At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed [ncbi.nlm.nih.gov]

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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Hereditary Hemorrhagic Telangiectasia

Bevacizumab, a VEGF inhibitor, reduces epistaxis, telangiectasias, and iron-deficiency anemia. [ncbi.nlm.nih.gov]

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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Common Variable Immunodeficiency

[…] glycosylated hemoglobin A1c values. [ncbi.nlm.nih.gov]

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

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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Erythropoietic Porphyria

hemoglobin concentration but also with a diminished blood concentration of the relevant protoporphyrin. 6 The publication of Egan et al now underlines the importance of ALAS2 [bloodjournal.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]

It is inherited in an autosomal dominant pattern. [genome.gov]

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Anemia

Abstract Anemia is a common condition and is diagnosed on laboratory assessment. It is defined by abnormally low hemoglobin concentration or decreased red blood cells. [ncbi.nlm.nih.gov]

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]

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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Congenital Hemolytic Anemia

For children with hereditary spherocytosis, after surgery there was an increase in hemoglobin (baseline 10.1 1.8 g/dl, 52 week 12.8 1.6 g/dl; mean SD), decrease in reticulocyte [ncbi.nlm.nih.gov]

Hemolytic anemia Hereditary elliptocytosis Hereditary pyropoikilocytosis Red cell membrane disorder Pediatrics, Perinatology, and Child Health Hematology Oncology Cite this [scholars.northwestern.edu]

An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. [icd9data.com]

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Hypophosphatasia

Relatively few conditions are associated with a low serum alkaline phosphatase including Wilson's disease, hypophosphatasia, pernicious anemia and untreated hypothyroidism [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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Congenital Hypoplastic Anemia

When exposed to a decrease in oxygen, hemoglobin S becomes viscous. [medical-dictionary.thefreedictionary.com]

Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make [books.google.com]

We report on a 3 generation family with autosomal dominant inheritance of CHA. [ncbi.nlm.nih.gov]

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Congenital Aplastic Anemia

For instance, CAA may be observed in individuals suffering from Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [symptoma.com]

Aplastic Anemia Treatment at Dana-Farber/Boston Children's Children and young adults with aplastic anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders [childrenshospital.org]

Written by the leading names in pediatric hematology, this resource is an essential tool for anyone involved in caring for children with hematologic disorders. [books.google.it]

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Hereditary Sideroblastic Anemia

Males affected with sideroblastic anemia had growth retardation, hypochromic microcytic anemia, elevated serum iron, decreased unsaturated iron-binding capacity, increased [ncbi.nlm.nih.gov]

Exclusive bonus features include Diagnosaurus DDx, 200 pediatrics topics, and medical news feeds. [unboundmedicine.com]

[…] recessive sideroblastic anemia Autosomal dominant aplasia and myelodysplasia Autosomal recessive sideroblastic anemia Blackfan-Diamond anemia Congenital amegakaryocytic thrombocytopenia [se-atlas.de]

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Iron Deficiency Anemia

Although the risk of GI cancer (GIC) increases as hemoglobin decreases, guidelines do not usually recommend hemoglobin thresholds for IDA investigation. [ncbi.nlm.nih.gov]

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

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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Juvenile Polyp

The boy often had rectal bleeding, and anemia was known. Transection was necessary to prevent bleeding and anemia. [ncbi.nlm.nih.gov]

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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Osteopetrosis

Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia. [ncbi.nlm.nih.gov]

Full Title: Follow-up of phase I/II study of CaspaCide T cells from an HLA-partially matched family donor after negative selection of TCR αβ T cells in pediatric patients [clinicaltrialsregister.eu]

Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and heterogeneous form of osteopetrosis [ncbi.nlm.nih.gov]

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Familial Neutropenia

Aplastic anemia ? Fanconi anemia ? Shwachman-Diamond syndrome ? Diamond Blackfan anemia ? Dyskeratosis congenita ? Cyclic neutropenia ? [acronymattic.com]

[…] physician involved in the diagnosis of pediatric bone marrow disorders. [books.google.de]

Pedigrees of four of these families were also studied, which pointed to an autosomal dominant form of inheritance. [cags.org.ae]

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Nephroblastoma

The most frequently altered parameter was hemoglobin, which was decreased in 41.7 % of survivors. Decraesed hemoglobin may worsen quality of survivors life. [ncbi.nlm.nih.gov]

Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr. 1993 Nov. 123(5):673-8. [Medline]. [docdoc.com.sg]

Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion. [orpha.net]

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Hemolytic Uremic Syndrome

[…] hemolysis, which is characterized by elevated LDH levels, decreased haptoglobin, decreased hemoglobin, and/or the presence of schistocytes. [en.wikipedia.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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Acute Myeloid Leukemia

asthenia, malaise, edema peripheral, hemoglobin decreased, decreased appetite, oropharyngeal pain, and alopecia with AML are epistaxis, back pain, pain in extremity, erythema [neupogenhcp.com]

Hasle H: Myelodysplastic and myeloproliferative disorders in children. Curr Opin Pediatr 19 (1): 1-8, 2007. [northshore.org]

dominant mode of genetic transmission. [ncbi.nlm.nih.gov]

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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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Osteomyelitis

(due to anemia of chronic disease, sickle cell anemia etc which may give rise to non-healing ulcers.) [medicaljoyworks.com]

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

disease, with 85% of patients aged below 17 years.8 In adult patients, it is estimated that 47–50% of all osteomyelitis are post-traumatic. [bjid.org.br]

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Anemia due to Glutathione Metabolism Disorder

Addition of copper to normal erythrocytes led to increased autohemolysis, thermolability of hemoglobin, increased sensitivity to acetylphenylhydrazine, decreased erythrocyte [annals.org]

American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders [emedicine.medscape.com]

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Renal Autosomal Dominant Disorders Autosomal Dominant. [kumc.edu]

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Congenital Neutropenia

asthenia, malaise, edema peripheral, hemoglobin decreased, decreased appetite, oropharyngeal pain, and alopecia with AML are epistaxis, back pain, pain in extremity, erythema [neupogenhcp.com]

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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Erythropoietic Coproporphyria

The patient displayed symptoms and signs of anemia and chronic skin lesions. [academic.oup.com]

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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Leukemia

( 3 ) with or without lymphadenopathy, hepatomegaly, splenomegaly, or anemia. [web.archive.org]

[…] oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. [theguardian.com]

dominant human disorder with multiple café-au-lait spots, axillary freckling, macrocephaly, and learning difficulties. 1, 2 This disorder belongs to the recently identified [doi.org]

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Epidermolysis Bullosa

In one severe form, recessive dystrophic epidermolysis bullosa, chronic anemia is common. [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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Congenital Cortical Hyperostoses

Acute manifestations—fever, anemia, lymphocytosis, increased sedimentation rate of erythrocytes and tender brawny nonhyperemic edema of soft tissues overlying affected bone—subside [jamanetwork.com]

The transmission is autosomal dominant. [iofbonehealth.org]

Hyperirritability, fever and anemia with leukocytosis are the outstanding clinical manifestations; characteristic shadows of external thickenings of the corticallis of the [pediatrics.aappublications.org]

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