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Pancreatic Insufficiency - Anemia - Hyperostosis Syndrome

Exocrine Pancreatic Insufficiency - Dyserythropoietic Anemia - Calvarial Hyperostosis


Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Polymorphic Variants from UniProtKB/Swiss-Prot for COX4I2 Gene - elite association - COSMIC cancer census association via MalaCards Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present[genecards.org]
  • Enzyme replacement therapy for pancreatic insufficiency: present and future. Clin Exp Gastroenterol . 2011. 4:55-73. [Medline] . [Full Text] . Dominguez-Munoz JE.[emedicine.medscape.com]
  • For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.[centogene.com]
  • Entry Name Description Category Pathway H00884 Familial progressive hyperpigmentation Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth.[kegg.jp]
Anemia
  • Anemia, And Calvarial Hyperostosis in N Eng J Med, Lancet, BMJ Media Powerpoint slides on Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis Images of Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And[wikidoc.org]
  • Entry H00920 Disease Name Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Description Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis[genome.jp]
  • エントリ H00920 名称 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 階層分類 ヒト疾患 [BR: jp08402 ] 循環器系疾患 血液疾患 H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 消化器系疾患 膵疾患 H00920[genome.jp]
  • Anemia of inadequate production MedGen UID: 95937 • Concept ID: C0392708 • Pathologic Function A kind of anemia characterized by inadequate production of erythrocytes.[ncbi.nlm.nih.gov]
  • Disease definition This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.[orpha.net]
Developmental Delay
  • Global developmental delay MedGen UID: 892935 • Concept ID: C4020875 • Pathologic Function A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills[ncbi.nlm.nih.gov]
  • HERMANSKY-PUDLAK SYNDROME 2; HPS2 Is also known as ;hps2; hermansky-pudlak syndrome type 2 Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Pica Hearing impairment SOURCES: UMLS ORPHANET GARD MESH MONDO[mendelian.co]
  • Cases 97253 Pancreatic endocrine tumor 0.21 I * 2255 Pancreatic hypoplasia-diabetes- congenital heart disease syndrome 10 Cases 199337 Pancreatic insufficiency- anemia-hyperostosis syndrome 5 Cases 677 Pancreatoblastoma 60 Cases 401764 Pancytopenia-developmental[azkurs.org]
  • delays, movement disorders (dystonia, muscle spasms, tremors, chorea), stroke, and brain atrophy. 10.[brevets-patents.ic.gc.ca]
Malnutrition
  • Malnutrition MedGen UID: 56429 • Concept ID: C0162429 • Disease or Syndrome An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.[ncbi.nlm.nih.gov]
  • […] closeHP:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition[pediascape.org]
  • Hyperbilirubinemia Anemia Seizures Hearing impairment Hepatic steatosis Intellectual disability Rare Symptoms - Less than 30% cases Scaling skin Osteopetrosis Osteolytic defects of the phalanges of the hand Nystagmus Cataract Lipodystrophy Acanthosis nigricans Malnutrition[mendelian.co]
Epilepsy
  • […] metabolism dysfunction 4 (SMDP4) [MIM: 300770 ] CSF3R Q99062 non-pleiotropic Hereditary neutrophilia (NEUTROPHILIA) [MIM: 162830 ] CSNK1D P48730 non-pleiotropic Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM: 615224 ] CSTB P04080 non-pleiotropic Epilepsy[sbg.bio.ic.ac.uk]
  • Congenital malformation hsa00310 Lysine degradation H00908 Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital[kegg.jp]
  • […] ataxia (IOSCA)/ Mitochondrial DNA Depletion Syndrome-7, Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), Autosomal recessive spastic ataxia-3 (SPAX3), MIRAS, SANDO, mitochondrial spinocerebellar ataxia and epilepsy[brevets-patents.ic.gc.ca]
Inflammation
  • Allergic rhinitis MedGen UID: 382012 • Concept ID: C2607914 • Disease or Syndrome An inflammation of the NASAL MUCOSA triggered by ALLERGENS.[ncbi.nlm.nih.gov]
  • Sympathetic Ophthalmia members Sympathetic Ophthalmia is an inflammation of both eyes following trauma to one eye. Synovial Chondromatosis 1 members Synovial Chondromatosis is a rare benign cancer of the tissue that lines the joints (synovium).[rareshare.org]
  • Inherited metabolic disease; Mitochondrial disease H00892 Bronchiectasis with or without elevated sweat chloride Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection.[kegg.jp]
Splenomegaly
  • Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
  • […] ichthyosis-sclerosing cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome Related symptoms: Autosomal recessive inheritance Hepatomegaly Splenomegaly[mendelian.co]
Splenomegaly
  • Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
  • […] ichthyosis-sclerosing cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome Related symptoms: Autosomal recessive inheritance Hepatomegaly Splenomegaly[mendelian.co]
Steatorrhea
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis パスウェイ hsa00190 酸化的リン酸化 hsa01100 代謝パスウェイ 病因遺伝子 COX4I2 [HSA: 84701 ] [KO: K02263 ] コメント Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea[genome.jp]
  • […] dyserythropoietic anemia, and calvarial hyperostosis Pathway hsa00190 Oxidative phosphorylation hsa01100 Metabolic pathways Gene COX4I2 [HSA: 84701 ] [KO: K02263 ] Comment Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea[genome.jp]
  • Steatorrhea MedGen UID: 20948 • Concept ID: C0038238 • Finding A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.[ncbi.nlm.nih.gov]
  • Abstract Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes.[ncbi.nlm.nih.gov]
  • Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes.[pubfacts.com]
Steatorrhea
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis パスウェイ hsa00190 酸化的リン酸化 hsa01100 代謝パスウェイ 病因遺伝子 COX4I2 [HSA: 84701 ] [KO: K02263 ] コメント Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea[genome.jp]
  • […] dyserythropoietic anemia, and calvarial hyperostosis Pathway hsa00190 Oxidative phosphorylation hsa01100 Metabolic pathways Gene COX4I2 [HSA: 84701 ] [KO: K02263 ] Comment Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea[genome.jp]
  • Steatorrhea MedGen UID: 20948 • Concept ID: C0038238 • Finding A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.[ncbi.nlm.nih.gov]
  • Abstract Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes.[ncbi.nlm.nih.gov]
  • Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes.[pubfacts.com]
Failure to Thrive
  • Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.[ncbi.nlm.nih.gov]
  • […] to thrive SOURCES: UMLS GARD MESH DOID OMIM MONDO More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Low match HERMANSKY-PUDLAK SYNDROME 2; HPS2 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet[mendelian.co]
  • […] to thrive, and anemia soon after birth.[genecards.org]
  • […] to thrive, poor coordination, sensory (vision, hearing) problems, reduced mental functions, hypotonia, disease of the organ, dementia, respiratory problems, hypoglycemia, apnea, lactic acidosis, seizures, swallowing difficulties, developmental delays[brevets-patents.ic.gc.ca]
Diarrhea
  • Steatorrhea MedGen UID: 20948 • Concept ID: C0038238 • Finding A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.[ncbi.nlm.nih.gov]
  • Clinical Features: Symptoms include: abdominal pain radiating towards the mid-back specially when patient lay flat, diarrhea and malodorous, greasy stools, Nausea, Weight Loss, darkening of the Urine color, lightening of the coler of the stool progressing[humandiseaseinsight.com]
  • […] type 2 DSPP Dentinogenesis imperfecta, Shields type 2 DSPP Dentinogenesis imperfecta, Shields type 3 DSPP Dermatitis, atopic type 2 FLG Dermatopathia pigmentosa reticularis KRT14 Diaphyseal medullary stenosis with malignant fibrous histiocytoma MTAP Diarrhea[centogene.com]
Dental Caries
  • This term has been used to describe the presence of more than expected dental caries. Skin rash MedGen UID: 8732 • Concept ID: C0015230 • Finding A red eruption of the skin.[ncbi.nlm.nih.gov]
  • Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism.[mendelian.co]
Jaundice
  • Clinical jaundice usually is a sign of LIVER dysfunction.[ncbi.nlm.nih.gov]
  • On examination patient with jaundice have palpable gallbladder. More[humandiseaseinsight.com]
  • […] cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome Related symptoms: Autosomal recessive inheritance Hepatomegaly Splenomegaly Alopecia Jaundice[mendelian.co]
Hepatomegaly
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]
  • Diseases related with Hepatomegaly and Abnormality of the dentition In the following list you will find some of the most common rare diseases related to Hepatomegaly and Abnormality of the dentition that can help you solving undiagnosed cases.[mendelian.co]
Liver Dysfunction
Skeletal Dysplasia
  • Category Metabolic disease; Pancreas disease; Hematologic disease; Skeletal dysplasia Brite Human diseases [BR: br08402 ] Cardiovascular diseases Hematologic diseases H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis[genome.jp]
  • dysplasia Torrance type (PLSD-T) [MIM: 151210 ] COL3A1 P02461 pleiotropic Aortic aneurysm, familial abdominal (AAA) [MIM: 100070 ] Ehlers-Danlos syndrome 4 (EDS4) [MIM: 130050 ] Ehlers-Danlos syndrome 3 (EDS3) [MIM: 130020 ] COL4A1 P02462 pleiotropic[sbg.bio.ic.ac.uk]
  • Metabolic disease; Pancreas disease; Hematologic disease; Skeletal dysplasia hsa00190 Oxidative phosphorylation hsa01100 Metabolic pathways H00921 Revesz syndrome Exudative retinopathy with bone marrow failure Revesz syndrome is a rare congenital disorder[kegg.jp]
  • dysplasia LBR Griscelli syndrome type 1 MYO5A Griscelli syndrome type 3 MLPH Haim-Munk syndrome CTSC Heimler syndrome type 1 PEX1 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy CD59 Hemophagocytic lymphohistiocytosis[centogene.com]
Osteoporosis
  • Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis.[ncbi.nlm.nih.gov]
  • Inherited metabolic disease; Cardiovascular disease H00888 Nephrolithiasis/osteoporosis, hypophosphatemic Nephrolithiasis/osteoporosis, hypophosphatemic is a genetically heterologous group of disorders characterized by the formation of renal calcium stones[kegg.jp]
  • TNFSF11 Osteopetrosis, autosomal recessive type 3 CA2 Osteopetrosis, autosomal recessive type 4 CLCN7 Osteopetrosis, autosomal recessive type 5 OSTM1 Osteopetrosis, autosomal recessive type 6 PLEKHM1 Osteopetrosis, autosomal recessive type 7 TNFRSF11A Osteoporosis[centogene.com]
  • […] pneumonitis Proptosis Granulocytopenia Intermittent thrombocytopenia Cutaneous abscess Aberrant melanosome maturation Autosomal dominant inheritance Growth delay Sensorineural hearing impairment Cryptorchidism Flexion contracture Arrhythmia Kyphosis Osteoporosis[mendelian.co]
Osteopenia
  • Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis.[ncbi.nlm.nih.gov]
  • Congestive heart failure Myalgia Behavioral abnormality Retinal atrophy Dystonia Steatorrhea Scarring alopecia of scalp Hypotrichosis of the scalp Sclerosing cholangitis Absent hair Acute hepatitis Infantile onset Fatigue Delayed skeletal maturation Osteopenia[mendelian.co]
High Forehead
  • Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences.[ncbi.nlm.nih.gov]
Seizure
  • Growth and Development, Neurology, Oncology, Connective Tissue Diseases, and Immunization have been revised completely; and topics like Nephrotic Syndrome, Diabetes Mellitus, Newer Vaccines, Infectious Diseases, Genetic Disorders, Neurometabolic and Seizure[books.google.com]
  • Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism.[mendelian.co]
  • The method of claim 1, wherein the symptoms of the mitochondrial disease or disorder comprises one or more of poor growth, loss of muscle coordination, muscle weakness, neurological deficit, seizures, autism, autistic spectrum, autistic- like features[brevets-patents.ic.gc.ca]
  • […] distal, type 2B TNNI2 Arthrogryposis, distal, type 2B TNNT3 Arthrogryposis, distal, type 3 PIEZO2 Arthrogryposis, distal, type 5D ECEL1 Arthrogryposis, distal, type 5 PIEZO2 Arthrogryposis, distal, type 7 MYH8 Arthrogryposis, mental retardation, and seizures[centogene.com]
Excitement
  • It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.[books.google.com]
  • Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children.[books.google.com]

Workup

  • Diagnosis). [6] A complete laboratory evaluation (including pancreatic function testing) is required not only to diagnose EPI but also to determine the extent of the malabsorption and assess the manifestations of the underlying disease, if present (see Workup[emedicine.medscape.com]
Enlargement of the Spleen
  • Splenomegaly MedGen UID: 52469 • Concept ID: C0038002 • Finding Abnormal enlargement of the spleen.[ncbi.nlm.nih.gov]
Enlargement of the Liver
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Form a definitive diagnosis and create the best treatment plans possible with comprehensive coverage of all pediatric cancers, including less-common tumors, as well as all hematologic disorders, including newly recognized ones.[books.google.com]
  • And Calvarial Hyperostosis Causes & Risk Factors for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis Diagnostic studies for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis Treatment[wikidoc.org]
  • Also consider a Rife Healing Belt across the treatment location, as this will focus the frequency treatment directly at the location of problem. The machine has only been used for perhaps 50 days.[rifeandzappers2.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • The study included 227 patients. [20] Epidemiology and Prognosis Because EPI has multiple possible causes and is not usually recorded as a medical statistic, its prevalence and demographics cannot be established with certainty at present.[emedicine.medscape.com]

Etiology

  • Etiology The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Genetic counseling Transmission is autosomal recessive.[orpha.net]
  • The etiology of this deficiency includes both pancreatic and nonpancreatic causes (see Etiology). [1] The exocrine pancreas produces 3 main types of enzymes: amylase, protease, and lipase. [2] Under normal physiologic conditions, the enzymes (specifically[emedicine.medscape.com]
  • Chapter First Online: 01 October 2015 Abstract Pancreatic insufficiency in children can result from a variety of pancreatic insults—inheritable diseases, chronic pancreatitis secondary to various etiologies, after pancreatic resection and rarely following[link.springer.com]

Epidemiology

  • Summary Epidemiology It has been described in four children, three boys and one girl, from two consanguineous families. Etiology The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit.[orpha.net]
  • (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60[genecards.org]
  • The epidemiology and impact of pancreatic diseases in the United States. Curr Gastroenterol Rep . 2005 May. 7(2):90-5. [Medline] . de la Iglesia D, Vallejo-Senra N, Lopez-Lopez A, et al.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • Pathophysiology of the exocrine pancreas in cystic fibrosis. J R Soc Med. 1989;82(Suppl 16):2–10. PubMedCentral PubMed Google Scholar 17. Baker SS, Borowitz D, Baker RD. Pancreatic exocrine function in patients with cystic fibrosis.[link.springer.com]
  • Pathophysiology The GI tract is responsible for digesting and absorbing food. [7] Lipids provide the richest source of energy for the body, with 9 calories in every gram of fat; in comparison, carbohydrate and protein contains 4 calories per gram.[emedicine.medscape.com]

Prevention

  • (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60[genecards.org]
  • A method for treating or preventing a mitochondrial disease or disorder in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a chroman derivative or a pharmaceutically acceptable salt thereof, in[brevets-patents.ic.gc.ca]
  • Cystic fibrosis - In this condition, reduced chloride transport in the pancreas leads to reduced water content of secretions, precipitation of proteins, and plugging of ductules and acini, preventing the pancreatic enzymes from reaching the gut; autodigestion[emedicine.medscape.com]

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