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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| H00693 | ジーメンス型水疱性魚鱗癬 | Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known ... | 先天奇形 | KRT2E [HSA:3849] [KO:K07605] | |
| H00694 | デント病 | Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and ... | 泌尿器系疾患 |
(DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
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| H00695 | メレダ病 | Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal ... | 先天奇形 | SLURP1 [HSA:57152] [KO:K23681] | |
| H00696 |
Haim-Munk 症候群 歯周組織崩壊と爪甲鉤弯症を伴う掌蹠角化症 |
Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly ... | 先天奇形 | CTSC [HSA:1075] [KO:K01275] | |
| H00697 | 体位性筋収縮を伴うX連鎖ミオパチー | X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic ... | 神経系疾患; 筋骨格疾患 | FHL1 [HSA:2273] [KO:K14365] | |
| H00698 | ネマリンミオパチー | Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are ... | 神経系疾患; 筋骨格疾患 |
(NEM1) TPM3 [HSA:7170] [KO:K09290] (NEM2) NEB [HSA:4703] [KO:K18267] (NEM3) ACTA1 [HSA:58] [KO:K10354] (NEM4) TPM2 [HSA:7169] [KO:K10374] (NEM5A/5B/5C) TNNT1 [HSA:7138] [KO:K10372] (NEM6) KBTBD13 [HSA:390594] [KO:K21913] (NEM7) CFL2 [HSA:1073] [KO:K05765] (NEM8) KLHL40 [HSA:131377] [KO:K10473] (NEM9) KLHL41 [HSA:10324] [KO:K10473] (NEM10) LMOD3 [HSA:56203] [KO:K22030] (NEM11) MYPN [HSA:84665] [KO:K22028] |
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| H00699 | セントラルコア病 | Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal ... | 神経系疾患; 筋骨格疾患 | RYR1 [HSA:6261] [KO:K04961] | |
| H00700 | 中心核ミオパチー | Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic ... | 神経系疾患; 筋骨格疾患 |
(CNMX) MTM1 [HSA:4534] [KO:K01108] (CNM1) DNM2 [HSA:1785] [KO:K23484] (CNM2) BIN1 [HSA:274] [KO:K12562] (CNM3) MYF6 [HSA:4618] [KO:K18485] (CNM4) CCDC78 [HSA:124093] [KO:K23693] (CNM5) SPEG [HSA:10290] [KO:K08809] (CNM6) MAP3K20 [HSA:51776] [KO:K04424] |
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| H00701 | 先天性筋線維タイプ不均等症 | Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence ... | 神経系疾患; 筋骨格疾患 |
ACTA1 [HSA:58] [KO:K10354] SEPN1 [HSA:57190] [KO:K19874] TPM3 [HSA:7170] [KO:K09290] |
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| H00702 | キャップ病 | Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of ... | 神経系疾患; 筋骨格疾患 |
TRM2 [HSA:7169] [KO:K10374] TRM3 [HSA:7170] [KO:K09290] ACTA1 [HSA:58] [KO:K10354] |
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| H00703 | ミオシンストレージミオパチー | Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle ... | 神経系疾患; 筋骨格疾患 | MYH7 [HSA:4625] [KO:K17751] | |
| H00704 | 眼球咽頭型筋ジストロフィー | Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions ... | 神経系疾患; 筋骨格疾患 |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
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| H00705 | 先天性ミオトニー | Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal ... | 神経系疾患; 筋骨格疾患 | CLCN1 [HSA:1180] [KO:K05010] | |
| H00706 | Bart-Pumphrey 症候群 | Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding ... | 先天奇形 | GJB2 [HSA:2706] [KO:K07621] | |
| H00707 | 豪猪皮状魚鱗癬 | Ichthyosis hystrix is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such ... | 先天奇形 |
(IHCM) KRT1 [HSA:3848] [KO:K07605] (IHL) KRT10 [HSA:3858] [KO:K07604] |
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| H00708 | Naegeli-Franceschetti-Jadassohn 症候群 | Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma ... | 先天奇形 | KRT14 [HSA:3861] [KO:K07604] | |
| H00709 | Birk-Barel 症候群 | Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease ... | 先天奇形 | KCNK9 [HSA:51305] [KO:K04919] | |
| H00710 | 変異性紅斑角皮症 | Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise ... | 先天奇形 |
(EKVP1) GJB3 [HSA:2707] [KO:K07622] (EKVP2) GJB4 [HSA:127534] [KO:K07623] (EKVP3) GJA1 [HSA:2697] [KO:K07372] (EKVP4) KDSR [HSA:2531] [KO:K04708] (EKVP5) KRT83 [HSA:3889] [KO:K07605] (EKVP6) TRPM4 [HSA:54795] [KO:K04979] (EKVP7) PERP [HSA:64065] [KO:K10136] |
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| H00711 | ラッセル・シルバー症候群 | Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular ... | 先天奇形 |
(SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
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| H00712 | KID/HID 症候群 | Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with ... | 先天奇形 |
(KIDAD/HID) GJB2 [HSA:2706] [KO:K07621] (KIDAR) AP1B1 [HSA:162] [KO:K12392] |
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| H00713 | ベックウィズ・ウイーデマン症候群 | Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in ... | 先天奇形 |
CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
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| H00714 | フォーヴィンケル症候群 | Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading ... | 先天奇形 |
GJB2 [HSA:2706] [KO:K07621] (variant form) LORICRIN [HSA:4014] [KO:K10385] |
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| H00715 |
ダリエー病 毛包性角化異常症 |
Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and ... | 先天奇形 | ATP2A2 [HSA:488] [KO:K05853] | |
| H00716 | 難聴を伴う掌蹠角化症 | Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel ... | 先天奇形 | GJB2 [HSA:2706] [KO:K07621] | |
| H00717 | 線状掌蹠角化症 | Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis ... | 先天奇形 |
(PPKS1) DSG1 [HSA:1828] [KO:K07596] (PPKS2) DSP [HSA:1832] [KO:K10381] (PPKS3) KRT1 [HSA:3848] [KO:K07605] |
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| H00718 | ソトス症候群 | Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... | 先天奇形 |
(SOTOS1) NSD1 [HSA:64324] [KO:K15588] (SOTOS2) NFIX [HSA:4784] [KO:K09171] (SOTOS3) APC2 [HSA:10297] [KO:K02085] |
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| H00719 | 妖精症 | Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly ... | 内分泌代謝疾患 | INSR [HSA:3643] [KO:K04527] | |
| H00720 | QT 延長症候群 | Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity ... | 循環器系疾患 |
(LQT1) KCNQ1 [HSA:3784] [KO:K04926] (LQT2) KCNH2 [HSA:3757] [KO:K04905] (LQT3) SCN5A [HSA:6331] [KO:K04838] (LQT4) ANK2 [HSA:287] [KO:K09255] (LQT5) KCNE1 [HSA:3753] [KO:K04894] (LQT6) KCNE2 [HSA:9992] [KO:K04896] (LQT7) KCNJ2 [HSA:3759] [KO:K04996] (LQT8) CACNA1C [HSA:775] [KO:K04850] (LQT9) CAV3 [HSA:859] [KO:K12959] (LQT10) SCN4B [HSA:6330] [KO:K04848] (LQT11) AKAP9 [HSA:10142] [KO:K16551] (LQT12) SNTA1 [HSA:6640] [KO:K24063] (LQT13) KCNJ5 [HSA:3762] [KO:K04999] (LQT14) CALM1 [HSA:801] [KO:K02183] (LQT15) CALM2 [HSA:805] [KO:K02183] (LQT16) CALM3 [HSA:808] [KO:K02183] |
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| H00721 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency | Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes. | 免疫系疾患 | MYD88 [HSA:4615] [KO:K04729] | |
| H00722 | 表皮剥離性掌蹠角化症 | Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow ... | 先天奇形 |
(EPPK1) KRT9 [HSA:3857] [KO:K07604] (EPPK2) KRT1 [HSA:3848] [KO:K07605] |