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考えれる10県の原因 hhf1

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  • 先天性葉酸吸収不良

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01270 家族性低ベータリポタンパク血症 家族性低ベータリポ蛋白血症(FHBL)は、血漿のアポリポタンパクB、およびLDL[kegg.jp] Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hs a049 10 Insulin signaling pathway hs a049 30 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K00022 ] (HHF5) INSR[kegg.jp]

  • トランスコバラミン 1 欠乏

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01270 家族性低ベータリポタンパク血症 家族性低ベータリポ蛋白血症(FHBL)は、血漿のアポリポタンパクB、およびLDL[kegg.jp] Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hs a049 10 Insulin signaling pathway hs a049 30 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K00022 ] (HHF5) INSR[kegg.jp]

  • ジルベール症候群

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H02056 デュビン・ジョンソン症候群 デュビン・ジョンソン症候群 (DJS)は、慢性的な高抱合ビリルビン血症と陰イオン[kegg.jp] Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hs a020 10 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K00022 ] (HHF5) INSR[kegg.jp]

  • Hoyeraal-Hreidarsson症候群

    HYPERGLYCINEMIA, NONKETOTIC; NKH 高グリシン血症, グリシン過剰血症 AMT HYPER-lgE RECURRENT INFECTION (JOB’S) SYNDROME HYPER-lgE 症候群 STAT3 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1[weeklybiz.sakura.ne.jp] Hoyeraal-Hreidarsson 症候群 DKC1 HUNTINGTON DESEASE; HD ハンティングトン病 HTT HURLER SYNDROME ハーラー症候群 IDUA HYALINOSIS, INFANTILE SYSTEMIC ヒアリン症, 硝子様変性症 ANTXR2 HYDROCEPHALUS, X-LINKED; L1CAM 水頭症 L1CAM[weeklybiz.sakura.ne.jp]

  • 神鳥斑点網膜

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01364 HADH欠損症 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症 HADH 欠損症は、HADH 遺伝子の変異によって[kegg.jp] […] hsa00071 Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K000 22 ] (HHF5) INSR[kegg.jp]

  • Dグリセリン酸尿

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01352 ミトコンドリア三頭酵素欠損症 ミトコンドリア三頭酵素(TFP)欠損症は、HADHA遺伝子とHADHB遺伝子の[kegg.jp] 71 Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K00022 ] (HHF5) INSR[kegg.jp]

  • 舌咽麻痺

    ICD10コード: G52 その他の脳神経障害 検索数: 32 件 病名 ICD10コード 病名交換用コード 1 嗅神経障害 G520 U85B 2 嗅神経麻痺 G520 HHF9 3 舌咽神経障害 G521 UDDS 4 舌咽神経痛 G521 LN3M 5 舌咽神経麻痺 G521 VLCQ 6 一側性反回神経麻痺 G522 THEG 7[dis.h.u-tokyo.ac.jp]

  • 原発性ジストニアDYT2型

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01364 HADH欠損症 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症 HADH 欠損症は、HADH 遺伝子の変異によって[kegg.jp] […] hsa00071 Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K000 22 ] (HHF5) INSR[kegg.jp]

  • Y連鎖難聴 1

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01268 HHH症候群 高オルニチン血症・高アンモニア血症・ホモシトルリン尿症 HHH症候群(高オルニチン血症・高アンモニア[kegg.jp] […] hsa00071 Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K00022 ] (HHF5) INSR[kegg.jp]

  • 原発性捻転ジストニア 6

    [HSA: 3643 ] [KO: K04527 ] (HHF6) GLUD1 [HSA: 2746 ] [KO: K00261 ] (HHF7) SLC16A1 [HSA: 6566 ] [KO: K08179 ] H01364 HADH欠損症 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症 HADH 欠損症は、HADH 遺伝子の変異によって[kegg.jp] […] hsa00071 Fatty acid degradation hsa00471 D-Glutamine and D-glutamate metabolism hsa02010 ABC transporters hsa04910 Insulin signaling pathway hsa04930 Type II diabetes mellitus (HHF1[kegg.jp] LIH) ABCC8 [HSA: 6833 ] [KO: K05032 ] (HHF2) KCNJ11 [HSA: 3767 ] [KO: K05004 ] (HHF3) GCK [HSA: 2645 ] [KO: K12407 ] (HHF4) HADHSC [HSA: 3033 ] [KO: K000 22 ] (HHF5) INSR[kegg.jp]

さらなる症状