Hypoparathyroidism, Familial Isolated malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases
Aliases & Descriptions for Hypoparathyroidism, Familial Isolated:
Orphanet epidemiological data:52
familial isolated hypoparathyroidism due to impaired pth secretion:
Inheritance: Autosomal dominant,Autosomal recessive
familial isolated hypoparathyroidism:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages
hypoparathyroidism, familial isolated:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Endocrine diseases
OMIM:50 Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that... (146200) more...
MalaCards based summary: Hypoparathyroidism, Familial Isolated, also known as familial isolated hypoparathyroidism, is related to casr-associated familial isolated hypoparathyroidism and casr-related familial isolated hypoparathyroidism, and has symptoms including nephropathy, hypoparathyroidism and seizures. An important gene associated with Hypoparathyroidism, Familial Isolated is PTH (Parathyroid Hormone). Affiliated tissues include thymus and eye, and related mouse phenotype craniofacial.
UniProtKB/Swiss-Prot:68 Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
Symptoms by clinical synopsis from OMIM:146200
Clinical features from OMIM:146200
Symptoms:52 (show all 12)
HPO human phenotypes related to Hypoparathyroidism, Familial Isolated:(show all 19)
MalaCards organs/tissues related to Hypoparathyroidism, Familial Isolated:34
UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Familial Isolated:68
Clinvar genetic disease variations for Hypoparathyroidism, Familial Isolated:5
Search GEO for disease gene expression data for Hypoparathyroidism, Familial Isolated.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet