Multiple Endocrine Neoplasia Iia malady
Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
9Disease Ontology, 41NIH Rare Diseases, 45OMIM, 42NINDS, 19GeneReviews, 31MalaCards
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NINDS:42 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and mental retardation. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn?t necessarily indicate abnormality. Large head size is passed down through the generations in some families.
MalaCards based summary: Multiple Endocrine Neoplasia Iia, also known as multiple endocrine neoplasia type 2a, is related to pancreatitis and adenoma, and has symptoms including abnormality of the fontanelles or cranial sutures, macrocephaly and dolichocephaly. An important gene associated with Multiple Endocrine Neoplasia Iia is RET (ret proto-oncogene). The compounds trypsinogen and calcium have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and colon.
Disease Ontology:9 An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
NIH Rare Diseases:41 Multiple endocrine neoplasia, type 2 (men2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. endocrine glands most commonly involved include: adrenal (about half the time) parathyroid (20% of the time) thyroid (almost all of the time) men2 is caused by a defect in the ret gene. this defect causes many tumors to appear in the same person, but not necessarily at the same time. the adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. the condition is usually inherited in an autosomal dominant pattern. men2 is divided into three subtypes: type 2a, type 2b, and familial medullary thyroid carcinoma (fmtc). these subtypes differ in their characteristic signs and symptoms and risk of specific tumors. the features of this disorder are relatively consistent within any one family. last updated: 8/25/2010
OMIM:45 Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including... (171400) more...
GeneReviews summary for men2
Multiple Endocrine Neoplasia Iia, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Gastrointestinal diseases, Endocrine diseases
ICD10: 26 25
Rare neurological diseases
Rare gastroenterological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):47
multiple endocrine neoplasia type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy
multiple endocrine neoplasia type 2a:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy
tropical calcific chronic pancreatitis:
Age of onset: Childhood
Symptoms by clinical synopsis from OMIM:171400
Clinical features from OMIM:171400
Symptoms:47 (show all 81)
HPO human phenotypes related to Multiple Endocrine Neoplasia Iia:(show all 84)
MalaCards organs/tissues related to Multiple Endocrine Neoplasia Iia:31
Thyroid, Brain, Colon, Tongue, Cortex, Spinal cord, Bone, Skin, Eye, Kidney, Adrenal gland
UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia Iia:62 (show all 28)
Clinvar genetic disease variations for Multiple Endocrine Neoplasia Iia:6 (show all 40)
Cosmic variations for Multiple Endocrine Neoplasia Iia:7 (show all 82)
Search GEO for disease gene expression data for Multiple Endocrine Neoplasia Iia.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet