KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H00723 | 非表皮剥離性掌蹠角化症 | Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the ... | 先天奇形 |
(NEPPK) KRT16 [HSA:3868] [KO:K07604] (PPKNEFD) KRT6C [HSA:286887] [KO:K07605] |
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| H00724 | 白色海綿状母斑 | White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed ... | 先天奇形 |
(WSN1) KRT4 [HSA:3851] [KO:K07605] (WSN2) KRT13 [HSA:3860] [KO:K07604] |
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| H00725 | QT短縮症候群 | Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ... | 循環器系疾患 |
(SQT1) KCNH2 [HSA:3757] [KO:K04905] (SQT2) KCNQ1 [HSA:3784] [KO:K04926] (SQT3) KCNJ2 [HSA:3759] [KO:K04996] (SQT7) SLC4A3 [HSA:6508] [KO:K13856] |
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| H00726 | メースマン角膜上皮変性症 | Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic ... | 神経系疾患 |
(MECD1) KRT12 [HSA:3859] [KO:K07604] (MECD2) KRT3 [HSA:3850] [KO:K07605] |
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| H00727 |
Athabascan 脳幹発育不全症候群 Bosley-Salih-Alorainy 症候群 |
Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac ... | 先天奇形 | HOXA1 [HSA:3198] [KO:K09301] | |
| H00728 | ブルガダ症候群 | The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based ... | 循環器系疾患 |
(BRGDA1) SCN5A [HSA:6331] [KO:K04838] (BRGDA2) GPD1L [HSA:23171] [KO:K00006] (BRGDA3) CACNA1C [HSA:775] [KO:K04850] (BRGDA4) CACNB2 [HSA:783] [KO:K04863] (BRGDA5) SCN1B [HSA:6324] [KO:K04845] (BRGDA6) KCNE3 [HSA:10008] [KO:K04897] (BRGDA7) SCN3B [HSA:55800] [KO:K04847] (BRGDA8) HCN4 [HSA:10021] [KO:K04957] (BRGDA9) KCND3 [HSA:3752] [KO:K04893] |
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| H00729 | 洞不全症候群 | Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness ... | 循環器系疾患 |
(SSS1) SCN5A [HSA:6331] [KO:K04838] (SSS2) HCN4 [HSA:10021] [KO:K04957] (SSS3) MYH6 [HSA:4624] [KO:K17751] (SSS4) GNB2 [HSA:2783] [KO:K04537] |
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| H00730 | 家族性特発性心室細動 | Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the ... | 循環器系疾患 |
(IVF1) SCN5A [HSA:6331] [KO:K04838] (IVF2) DPP6 [HSA:1804] [KO:K23013] |
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| H00731 | 心房細動 | Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis ... | 循環器系疾患 |
(ATFB3) KCNQ1 [HSA:3784] [KO:K04926] (ATFB4) KCNE2 [HSA:9992] [KO:K04896] (ATFB6) NPPA [HSA:4878] [KO:K12334] (ATFB7) KCNA5 [HSA:3741] [KO:K04878] (ATFB9) KCNJ2 [HSA:3759] [KO:K04996] (ATFB10) SCN5A [HSA:6331] [KO:K04838] (ATFB11) GJA5 [HSA:2702] [KO:K07614] (ATFB12) ABCC9 [HSA:10060] [KO:K05033] (ATFB13) SCN1B [HSA:6324] [KO:K04845] (ATFB14) SCN2B [HSA:6327] [KO:K04846] (ATFB15) NUP155 [HSA:9631] [KO:K14312] (ATFB16/BRGDA7) SCN3B [HSA:55800] [KO:K04847] (ATFB17/LQT10) SCN4B [HSA:6330] [KO:K04848] (ATFB18) MYL4 [HSA:4635] [KO:K12750] |
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| H00732 |
ソースビー眼底変性症 ソースビー黄斑変性症 |
Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of ... | 神経系疾患 | TIMP3 [HSA:7078] [KO:K16866] | |
| H00733 | 道化師様魚鱗癬 | Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion ... | 先天奇形 | ABCA12 [HSA:26154] [KO:K05646] | |
| H00734 | 常染色体劣性遺伝性先天性魚鱗癬 | Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... | 先天奇形 |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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| H00735 | 尋常性魚鱗癬 | Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin ... | 先天奇形 | FLG [HSA:2312] [KO:K10384] | |
| H00736 | ドルフマン・シャナリン症候群 | Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ... | 先天性代謝異常症 | ABHD5 [HSA:51099] [KO:K13699] | |
| H00737 | Peeling skin 症候群 | Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) ... | 先天奇形 |
(PSS1) CDSN [HSA:1041] [KO:K23457] (PSS2) TGM5 [HSA:9333] [KO:K05622] (PSS3) CHST8 [HSA:64377] [KO:K09672] (PSS4) CSTA [HSA:1475] [KO:K13907] (PSS5) SERPINB8 [HSA:5271] [KO:K13965] (PSS6) FLG2 [HSA:388698] [KO:K10384] (PLACK) CAST [HSA:831] [KO:K04281] |
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| H00738 | Ichthyosis with confetti | Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches ... | 先天奇形 | KRT10 [HSA:3858] [KO:K07604] | |
| H00739 | 乏毛症を伴う魚鱗癬 | Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in ... | 先天奇形 | ST14 [HSA:6768] [KO:K08670] | |
| H00740 | IFAP 症候群 | Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia ... | 先天奇形 |
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
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| H00741 | 魚鱗癬未熟児症候群 | Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease ... | 先天奇形 | SLC27A4 [HSA:10999] [KO:K08745] | |
| H00742 | NISCH 症候群 | Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present ... | 先天奇形 | CLDN1 [HSA:9076] [KO:K06087] | |
| H00743 | 先天性パラミオトニー | Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in ... | 神経系疾患; 筋骨格疾患 | SCN4A [HSA:6329] [KO:K04837] | |
| H00744 |
カリウム惹起性ミオトニー ナトリウムチャネルミオトニー |
Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with ... | 神経系疾患; 筋骨格疾患 | SCN4A [HSA:6329] [KO:K04837] | |
| H00745 | 高カリウム血性周期性四肢麻痺 | The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with ... | 神経系疾患; 筋骨格疾患 | (HYPP) SCN4A [HSA:6329] [KO:K04837] | |
| H00746 | 低カリウム血性周期性四肢麻痺 | Hypokalemic periodic paralysis (HOKPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium and calcium channel genes in skeletal muscle. In general ... | 神経系疾患; 筋骨格疾患 |
(HOKPP1) CACNA1S [HSA:779] [KO:K04857] (HOKPP2) SCN4A [HSA:6329] [KO:K04837] |
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| H00747 | 低カリウム性甲状腺中毒性周期性四肢麻痺 | Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often ... | 神経系疾患; 筋骨格疾患 |
(TTPP1) CACNA1S [HSA:779] [KO:K04857] (TTPP2) KCNJ18 [HSA:100134444] [KO:K05005] |
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| H00748 | Andersen-Tawil 症候群 | Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis ... | 先天奇形 | KCNJ2 [HSA:3759] [KO:K04996] | |
| H00749 | 発作性運動失調症 | Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the ... | 神経系疾患 |
(EA1) KCNA1 [HSA:3736] [KO:K04874] (EA2) CACNA1A [HSA:773] [KO:K04344] (EA5) CACNB4 [HSA:785] [KO:K04865] (EA6) SLC1A3 [HSA:6507] [KO:K05614] (EA9) SCN2A [HSA:6326] [KO:K04834] |
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| H00750 | 萎縮性毛孔性角化症 | Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF) ... | 先天奇形 |
(KFSDX) MBTPS2 [HSA:51360] [KO:K07765] (KPA) LRP1 [HSA:4035] [KO:K04550] |
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| H00751 |
窒息性胸郭ジストロフィー ジューヌ症候群 |
Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and ... | 先天奇形 |
(ATD2) IFT80 [HSA:57560] [KO:K19678] (ATD3) DYNC2H1 [HSA:79659] [KO:K10414] (ATD4) TTC21B [HSA:79809] [KO:K19673] (ATD5) WDR19 [HSA:57728] [KO:K19671] |
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| H00752 | Hay–Wells 症候群 及び Rapp–Hodgkin 症候群 | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme ... | 先天奇形 | TP63 [HSA:8626] [KO:K10149] |