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Details of STX16 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The gene represented in this entry is involved in disease pathogenesis. Microdeletions involving STX16 can cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. |
603233 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of body weight, Abnormality of calcium homeostasis, Abnormality of calcium-phosphate metabolism, Abnormality of cation homeostasis, Abnormality of circulating hormone level, Abnormality of divalent inorganic cation homeostasis, Abnormality of ion homeostasis, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of phosphate homeostasis, Abnormality of skeletal morphology, Abnormality of the digits, Abnormality of the endocrine system, Abnormality of the hand, Abnormality of the metacarpal bones, Abnormality of the parathyroid gland, Abnormality of the parathyroid physiology, Abnormality of the skeletal system, Abnormality of the upper limb, All, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the extremities, Autosomal dominant inheritance, Brachydactyly syndrome, Elevated circulating parathyroid hormone (PTH) level, Growth abnormality, Hyperphosphatemia, Hypocalcemia, Increased body weight, Low urinary cyclic AMP response to PTH administration, Mode of inheritance, Obesity, Phenotypic abnormality, Pseudohypoparathyroidism, Short digit, Short metacarpal.
