Pseudohypoparathyroidism type 1C

Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).



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対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 55

HPO ID 徴候・症状 頻度
HP:0000852 偽性副甲状腺機能低下症 Obligate (100%)
HP:0002901 低カルシウム血症 Very frequent (99-80%)
HP:0002905 高リン血症 Very frequent (99-80%)
HP:0003165 循環性副甲状腺ホルモン(PTH) 値上昇 Very frequent (99-80%)
HP:0003456 PTH 投与への尿中 cyclic AMP反応の低下 Very frequent (99-80%)
HP:0008227 甲状腺ホルモンへの下垂体抵抗性 Very frequent (99-80%)
HP:0000293 大きな頬 Frequent (79-30%)
HP:0000311 丸い顔 Frequent (79-30%)
HP:0000470 短い頸部 Frequent (79-30%)
HP:0000518 白内障 Frequent (79-30%)
HP:0000639 眼振 Frequent (79-30%)
HP:0000684 歯萌出遅延 Frequent (79-30%)
HP:0000824 成長ホルモン欠乏症 Frequent (79-30%)
HP:0001156 短指症候群 Frequent (79-30%)
HP:0001249 知的障害 Frequent (79-30%)
HP:0001513 肥満 Frequent (79-30%)
HP:0002135 基底核石灰化 Frequent (79-30%)
HP:0002591 過食症 Frequent (79-30%)
HP:0004322 低身長 Frequent (79-30%)
HP:0004704 短い第5中足骨 Frequent (79-30%)
HP:0005280 落ちくぼんだ鼻梁 Frequent (79-30%)
HP:0006297 歯エナメル質低形成 Frequent (79-30%)
HP:0006960 脈絡膜叢石灰化 Frequent (79-30%)
HP:0010044 短い第4中手骨 Frequent (79-30%)
HP:0010047 短い第5中手骨 Frequent (79-30%)
HP:0010049 短い中手骨 Frequent (79-30%)
HP:0010743 短い中足骨 Frequent (79-30%)
HP:0011986 異所性骨化 Frequent (79-30%)
HP:0012185 収縮性正中神経ニューロパチー Frequent (79-30%)
HP:0000509 結膜炎 Occasional (29-5%)
HP:0000716 うつ Occasional (29-5%)
HP:0000737 被刺激性 Occasional (29-5%)
HP:0000739 不安 Occasional (29-5%)
HP:0000815 高ゴナドトロピン性性腺機能低下症 Occasional (29-5%)
HP:0000876 希発月経 Occasional (29-5%)
HP:0001265 反射低下 Occasional (29-5%)
HP:0001289 錯乱 Occasional (29-5%)
HP:0001657 遷延性 QT 間隔 Occasional (29-5%)
HP:0002094 呼吸困難 Occasional (29-5%)
HP:0002514 大脳石灰化 Occasional (29-5%)
HP:0003394 筋けいれん Occasional (29-5%)
HP:0003401 感覚異常 Occasional (29-5%)
HP:0003472 低カルシウム血症性テタニー Occasional (29-5%)
HP:0003739 ミオクローヌス性スパスム Occasional (29-5%)
HP:0003761 石灰症 Occasional (29-5%)
HP:0009642 幅広い母指末節骨 Occasional (29-5%)
HP:0010041 短い第3中手骨 Occasional (29-5%)
HP:0011001 骨ミネラル濃度の増加 Occasional (29-5%)
HP:0011458 腹部症状 Occasional (29-5%)
HP:0012049 喉頭ジストニア Occasional (29-5%)
HP:0025027 Osteoma cutis Occasional (29-5%)
HP:0100749 胸痛 Occasional (29-5%)
HP:0002199 低カルシウム血症性発作 Very rare (4-1%)
HP:0008202 プロラクチン欠乏症 Very rare (4-1%)
HP:0030057 Autoimmune antibody positivity Excluded (0%)


徴候・症状リスト（症例報告から取得）

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 1

Gene Symbol 遺伝子名 Entrez Gene ID
GNAS GNAS complex locus 2778