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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| H01747 | コステロ症候群 | Costello syndrome (CS) is a rare multiple congenital abnormality syndrome. Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive ... | 先天奇形 | HRAS [HSA:3265] [KO:K02833] | |
| H01748 | NLRC4 異常症 | The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC) ... | 免疫系疾患 | NLRC4 [HSA:58484] [KO:K12805] | |
| H01749 | 軟骨無形成症 | Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features ... | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H01750 | タナトフォリック骨異形成症 | Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia ... | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H01751 | ウィーバー症候群 | Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome ... | 先天奇形 | EZH2 [HSA:2146] [KO:K11430] | |
| H01752 |
ATR-X 症候群 X連鎖アルファサラセミア精神遅滞症候群 |
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic ... | 先天奇形 | ATRX [HSA:546] [KO:K10779] | |
| H01753 | アントレー・ビクスラー症候群 | Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, ... | 先天奇形 |
(ABS1) POR [HSA:5447] [KO:K00327] (ABS2) FGFR2 [HSA:2263] [KO:K05093] |
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| H01754 | クルーゾン症候群 | Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations ... | 先天奇形 |
(CS) FGFR2 [HSA:2263] [KO:K05093] (CAN) FGFR3 [HSA:2261] [KO:K05094] |
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| H01755 | アペール症候群 | Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate ... | 先天奇形 | FGFR2 [HSA:2263] [KO:K05093] | |
| H01756 | ファイファー症候群 | Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the ... | 先天奇形 |
FGFR1 [HSA:2260] [KO:K04362] FGFR2 [HSA:2263] [KO:K05093] |
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| H01757 |
皮質下梗塞と白質脳症を伴う常染色体劣性遺伝性脳動脈症 CARASIL |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel ... | 先天奇形 |
(CARASIL1) NOTCH3 [HSA:4854] [KO:K20995] (CARASIL2) HTRA1 [HSA:5654] [KO:K08784] |
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| H01758 | 再発性多発軟骨炎 | Relapsing polychondritis (RP) is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose ... | 筋骨格疾患 | ||
| H01759 |
自己免疫性後天性凝固第13因子欠乏症 自己免疫性出血病 XIII |
Autoimmune acquired factor XIII (F13) deficiency or autoimmune hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast ... | 血液疾患 | ||
| H01760 | 肝型糖原病 | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... | 先天性代謝異常症 |
(GSB Ia) G6PC [HSA:2538] [KO:K01084] (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171] (GSB IIIa/b) AGL [HSA:178] [KO:K01196] (GSB IV) GBE1 [HSA:2632] [KO:K00700] (GSB VI) PYGL [HSA:5836] [KO:K00688] (GSB IX) PHKA2 [HSA:5256] [KO:K07190] (GSB IXb) PHKB [HSA:5257] [KO:K07190] (GSB IXc) PHKG2 [HSA:5261] [KO:K00871] (GSB 0a) GYS2 [HSA:2998] [KO:K00693] |
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| H01761 |
IgG4 関連疾患 IgG4 関連多臓器リンパ増殖症候群 |
Immunoglobulin G4-related disease is a distinct clinical entity characterised by hyper-IgG4 gammaglobulinemia and IgG4 positive plasma cell infiltration in the tissue. Other characteristic features of ... | 免疫系疾患 | ||
| H01762 | 筋型糖原病 | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders ... | 先天性代謝異常症 |
(GSD II) GAA [HSA:2548] [KO:K12316] (GSD III) AGL [HSA:178] [KO:K01196] (GSD IV) GBE1 [HSA:2632] [KO:K00700] (GSD V) PYGM [HSA:5837] [KO:K00688] (GSD VII) PFKM [HSA:5213] [KO:K00850] (GSD IXd) PHKA1 [HSA:5255] [KO:K07190] (GSD X) PGAM2 [HSA:5224] [KO:K01834] (GSD XI) LDHA [HSA:3939] [KO:K00016] (GSD XII) ALDOA [HSA:226] [KO:K01623] (GSD XIII) ENO3 [HSA:2027] [KO:K01689] (GSD XIV) PGM1 [HSA:5236] [KO:K01835] (GSD XV) GYG1 [HSA:2992] [KO:K00750] (GSB 0) GYS1 [HSA:2997] [KO:K00693] |
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| H01763 | ポルフィリン症 | Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) ... | 先天性代謝異常症 |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP, PCT) UROD [HSA:7389] [KO:K01599] (ADP) ALAD [HSA:210] [KO:K01698] (AIP, ENCEP, LENCEP) HMBS [HSA:3145] [KO:K01749] (HCP) CPOX [HSA:1371] [KO:K00228] (VP) PPOX [HSA:5498] [KO:K00231] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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| H01764 | 多脾症候群 | Polysplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome with multiple spleens. It has been reported that most patients die before 5 years of age because the disease is often associated with ... | 先天奇形 | ||
| H01765 | 好酸球性副鼻腔炎 | Eosinophilic chronic rhinosinusitis (ECRS) is an inflammatory pathological condition of the nose and paranasal sinuses. Chronic rhinosinusitis (CRS) is a common disease worldwide, and CRS may be divided ... | 免疫系疾患 | ||
| H01766 | 若年網膜分離症 | Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause ... | 先天奇形 | ||
| H01767 | 紫斑病性腎炎 | Henoch-Schonlein purpura nephritis (HSPN) is a rare kidney disease leading to chronic kidney disease in a non-negligible percentage of patients. Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ... | 免疫系疾患; 泌尿器系疾患 | ||
| H01768 | 中心性輪紋状脈絡膜ジストロフィー | Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the ... | 神経系疾患 |
(CACD1) GUCY2D [HSA:3000] [KO:K12321] (CACD2) PRPH2 [HSA:5961] [KO:K17343] |
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| H01769 | ZTTK 症候群 | ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal ... | 先天奇形 | SON [HSA:6651] [KO:K23718] | |
| H01770 | 黄斑ジストロフィー | The inherited macular dystrophies are characterized by bilateral visual loss and the finding of generally symmetrical macular abnormalities visible either on ophthalmoscopy or on retinal angiographs. | 神経系疾患 |
(MCDR2) PROM1 [HSA:8842] [KO:K06532] (MCDR4) CLEC3B [HSA:7123] [KO:K17520] (MCDR5) CDHR1 [HSA:92211] [KO:K16501] (CCMD) MSFD8 [HSA:256471] [KO:K12307] (MDCD) SAMD7 [HSA:344658] [KO:K27571] |
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| H01771 | 先天性魚鱗癬 | The ichthyoses represent a large group of cutaneous disorders linked by the common finding of abnormal epidermal differentiation. These disorders are characterized by the cutaneous scaling, which is said ... | 先天奇形 | ||
| H01772 |
先天性副腎低形成症 X連鎖性アジソン病 |
Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive ... | 内分泌代謝疾患 | NR0B1 [HSA:190] [KO:K08562] | |
| H01773 |
4p 欠失症候群 ウォルフ・ヒルシュホーン症候群 |
4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome ... | 染色体異常 |
CPLX1 [HSA:10815] [KO:K15294] CTBP1 [HSA:1487] [KO:K04496] FGFRL1 [HSA:53834] [KO:K26107] LETM1 [HSA:3954] [KO:K17800] NSD2 [HSA:7468] [KO:K11424] |
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| H01774 | 全身性皮質性骨増殖症 | Hyperostosis corticalis generalisata is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. Autosomal recessive hyperostosis corticalis ... | 筋骨格疾患 |
(VBCH) SOST [HSA:50964] [KO:K16834] LRP5 [HSA:4041] [KO:K03068] |
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| H01775 |
PCDH19 関連症候群 早期乳児てんかん性脳症９型 |
PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively ... | 神経系疾患 | PCDH19 [HSA:57526] [KO:K16499] | |
| H01776 | アイカルディ症候群 | Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. Along with agenesis of corpus callosum ... | 先天奇形 |