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 |
|---|---|---|---|---|---|
| H00753 | Urofacial 症候群 | The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients ... | 先天奇形 |
(UFS1) HPSE2 [HSA:60495] [KO:K07965] (UFS2) LRIG2 [HSA:9860] [KO:K24609] |
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| H00754 | メチルグルタコン酸尿症 | 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... | 先天性代謝異常症 |
(MGCA1) AUH [HSA:549] [KO:K05607] (MGCA2) TAFAZZIN [HSA:6901] [KO:K13511] (MGCA3) OPA3 [HSA:80207] [KO:K23166] (MGCA5) DNAJC19 [HSA:131118] [KO:K09539] (MGCA6) SERAC1 [HSA:84947] [KO:K23504] (MGCA7A/7B) CLPB [HSA:81570] [KO:K03695] (MGCA8) HTRA2 [HSA:27429] [KO:K08669] (MGCA9) TIMM50 [HSA:92609] [KO:K17496] |
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| H00755 | 肬贅状肢端角化症 | Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ... | 先天奇形 | ATP2A2 [HSA:488] [KO:K05853] | |
| H00756 | Pitt-Hopkins 症候群 | Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... | 先天奇形 |
(PTHS) TCF4 [HSA:6925] [KO:K15603] (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380] (PTHSL2) NRXN1 [HSA:9378] [KO:K07377] |
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| H00757 | Dyggve-Melchior-Clausen 病 | Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened ... | 先天奇形 | DYM [HSA:54808] [KO:K23951] | |
| H00758 |
進行性偽リウマチ性異形成 進行性関節症を伴う遅延性脊椎骨端異形成 |
Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that ... | 先天奇形 | WISP3 [HSA:8838] [KO:K23090] | |
| H00759 | ワールデンブルグ症候群 | Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been ... | 先天性代謝異常症 |
(WS1/3) PAX3 [HSA:5077] [KO:K09381] (WS2A) MITF [HSA:4286] [KO:K09455] (WS2E/4C) SOX10 [HSA:6663] [KO:K09270] (WS2F) KITLG [HSA:4254] [KO:K05461] (WS4A) EDNRB [HSA:1910] [KO:K04198] (WS4B) EDN3 [HSA:1908] [KO:K05227] |
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| H00760 | 遅発性脊椎骨端異形成 | X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood ... | 先天奇形 | TRAPPC2 [HSA:6399] [KO:K20301] | |
| H00761 |
パキスタン型脊椎骨端骨幹端異形成 短体幹症 4型 |
Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy ... | 先天奇形 | PAPSS2 [HSA:9060] [KO:K13811] | |
| H00762 |
先天性関節脱臼を伴う脊椎骨端異形成 オマーン型脊椎骨端異形成 |
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood ... | 先天奇形 | CHST3 [HSA:9469] [KO:K01020] | |
| H00763 | 新生児一過性表皮水疱症 | Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation ... | 先天奇形 | COL7A1 [HSA:1294] [KO:K16628] | |
| H00764 |
5p欠失症候群 猫鳴き症候群 |
The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry ... | 染色体異常 |
SEMA5A [HSA:9037] [KO:K06841] CTNND2 [HSA:1501] [KO:K23491] TERT [HSA:7015] [KO:K11126] |
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| H00765 | キンバリー型脊椎骨端異形成症 | Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened ... | 先天奇形 | ACAN [HSA:176] [KO:K06792] | |
| H00766 | Wolcott-Rallison 症候群 | Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during ... | 内分泌代謝疾患 | EIF2AK3 [HSA:9451] [KO:K08860] | |
| H00767 | Matrilin型脊椎骨端骨幹端異形成 | SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism ... | 先天奇形 | MATN3 [HSA:4148] [KO:K19467] | |
| H00768 |
常染色体劣性遺伝性知的発達障害 常染色体劣性遺伝性精神遅滞 |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... | 精神及び行動の障害 |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] [KO:K28020] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] (MRT83) KICS2 [HSA:144577] [KO:K23297] |
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| H00769 |
過剰驚愕症 びっくり病 |
Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ... | 神経系疾患 |
(HKPX1) GLRA1 [HSA:2741] [KO:K05193] (HKPX2) GLRB [HSA:2743] [KO:K05196] (HKPX3) SLC6A5 [HSA:9152] [KO:K05038] (HKPX4) ATAD1 [HSA:84896] [KO:K22530] |
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| H00770 | 先天性筋無力症候群 | Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation ... | 神経系疾患 |
(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803] (CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812] (CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816] (CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817] (CMS5) COLQ [HSA:8292] [KO:K26586] (CMS6) CHAT [HSA:1103] [KO:K00623] (CMS7A/7B) SYT2 [HSA:127833] [KO:K19902] (CMS8) AGRN [HSA:375790] [KO:K06254] (CMS9) MUSK [HSA:4593] [KO:K05129] (CMS10) DOK7 [HSA:285489] [KO:K24038] (CMS11) RAPSN [HSA:5913] [KO:K24924] (CMS12) GFPT1 [HSA:2673] [KO:K00820] (CMS13) DPAGT1 [HSA:1798] [KO:K01001] (CMS14) ALG2 [HSA:85365] [KO:K03843] (CMS15) ALG14 [HSA:199857] [KO:K07441] (CMS16) SCN4A [HSA:6329] [KO:K04837] (CMS17) LRP4 [HSA:4038] [KO:K20051] (CMS19) COL13A1 [HSA:1305] [KO:K16617] (CMS20) SLC5A7 [HSA:60482] [KO:K14387] (CMS21) SLC18A3 [HSA:6572] [KO:K14636] (CMS22) PREPL [HSA:9581] [KO:K22582] (CMS23) SLC25A1 [HSA:6576] [KO:K15100] (CMS24) MYO9A [HSA:4649] [KO:K10360] (CMS25) VAMP1 [HSA:6843] [KO:K08510] |
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| H00771 | 原発性紅痛症 | Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait ... | 皮膚疾患 | SCN9A [HSA:6335] [KO:K04841] | |
| H00772 | 発作性激痛症 | Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7 ... | 神経系疾患 | SCN9A [HSA:6335] [KO:K04841] | |
| H00773 |
常染色体優性遺伝性知的発達障害 常染色体優性遺伝性精神遅滞 |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... | 精神及び行動の障害 |
(MRD1) MBD5 [HSA:55777] [KO:K23219] (MRD2) DOCK8 [HSA:81704] [KO:K21852] (MRD3) CDH15 [HSA:1013] [KO:K06809] (MRD4) KIRREL3 [HSA:84623] [KO:K25874] (MRD5) SYNGAP1 [HSA:8831] [KO:K17631] (MRD6) GRIN2B [HSA:2904] [KO:K05210] (MRD7) DYRK1A [HSA:1859] [KO:K08825] (MRD8) GRIN1 [HSA:2902] [KO:K05208] (MRD9) KIF1A [HSA:547] [KO:K10392] (MRD10) CACNG2 [HSA:10369] [KO:K04867] (MRD11) EPB41L1 [HSA:2036] [KO:K23961] (MRD12) ARID1B [HSA:57492] [KO:K11653] (MRD13) DYNC1H1 [HSA:1778] [KO:K10413] (MRD14) ARID1A [HSA:8289] [KO:K11653] (MRD15) SMARCB1 [HSA:6598] [KO:K11648] (MRD16) SMARCA4 [HSA:6597] [KO:K11647] (MRD17) PACS1 [HSA:55690] [KO:K23290] (MRD18) GATAD2B [HSA:57459] [KO:K23194] (MRD19) CTNNB1 [HSA:1499] [KO:K02105] (MRD20) MEF2C [HSA:4208] [KO:K04454] (MRD21) CTCF [HSA:10664] [KO:K23195] (MRD22) ZBTB18 [HSA:10472] [KO:K23196] (MRD23) SETD5 [HSA:55209] [KO:K23216] (MRD24) DEAF1 [HSA:10522] [KO:K23041] (MRD25) AHDC1 [HSA:27245] [KO:K22592] (MRD26) AUTS2 [HSA:26053] [KO:K23214] (MRD27) SOX11 [HSA:6664] [KO:K09268] (MRD29) SETBP1 [HSA:26040] [KO:K23217] (MRD30) ZMYND11 [HSA:10771] [KO:K23218] (MRD31) PURA [HSA:5813] [KO:K21772] (MRD32) KAT6A [HSA:7994] [KO:K11305] (MRD33) DPP6 [HSA:1804] [KO:K23013] (MRD34) COL4A3BP [HSA:10087] [KO:K08283] (MRD35/HJS1) PPP2R5D [HSA:5528] [KO:K11584] (MRD36/HJS2) PPP2R1A [HSA:5518] [KO:K03456] (MRD38) EEF1A2 [HSA:1917] [KO:K03231] (MRD39) MYT1L [HSA:23040] [KO:K23193] (MRD40) CHAMP1 [HSA:283489] [KO:K22593] (MRD41) TBL1XR1 [HSA:79718] [KO:K04508] (MRD42) GNB1 [HSA:2782] [KO:K04536] (MRD43) HIVEP2 [HSA:3097] [KO:K09239] (MRD44/63) TRIO [HSA:7204] [KO:K08810] (MRD45) CIC [HSA:23152] [KO:K20225] (MRD46) KCNQ5 [HSA:56479] [KO:K04930] (MRD47) STAG1 [HSA:10274] [KO:K06671] (MRD48) RAC1 [HSA:5879] [KO:K04392] (MRD50) NAA15 [HSA:80155] [KO:K20792] (MRD51) KMT5B [HSA:51111] [KO:K11429] (MRD52) ASH1L [HSA:55870] [KO:K06101] (MRD53) CAMK2A [HSA:815] [KO:K04515] (MRD54) CAMK2B [HSA:816] [KO:K04515] (MRD55) NUS1 [HSA:116150] [KO:K19177] (MRD56) CLTC [HSA:1213] [KO:K04646] (MRD57) TLK2 [HSA:11011] [KO:K08864] (MRD58) SET [HSA:6418] [KO:K11290] (MRD59) CAMK2G [HSA:818] [KO:K04515] (MRD60) AP2M1 [HSA:1173] [KO:K11826] (MRD61) MED13 [HSA:9969] [KO:K15164] (MRD62) DLG4 [HSA:1742] [KO:K11828] (MRD64) ZNF292 [HSA:23036] [KO:K26728] (MRD65) KDM4B [HSA:23030] [KO:K06709] (MRD66) ATP2B1 [HSA:490] [KO:K05850] (MRD67) GRIA1 [HSA:2890] [KO:K05197] (MRD68) KMT2B [HSA:9757] [KO:K14959] (MRD69) LMAN2L [HSA:81562] [KO:K10083] (MRD70) SETD2 [HSA:29072] [KO:K11423] (MRD71) RFX7 [HSA:64864] [KO:K09175] (MRD72) SRRM2 [HSA:23524] [KO:K13172] (MRD73) TAF4 [HSA:6874] [KO:K03129] (MRD74) HNRNPC [HSA:3183] [KO:K12884] (MRD75) DHX9 [HSA:1660] [KO:K13184] (MRD76) MARK2 [HSA:2011] [KO:K08798] (MRD77) LRRC7 [HSA:57554] [KO:K24055] |
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| H00774 | 先天性無痛覚 | Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP ... | 神経系疾患 |
(CIP) SCN9A [HSA:6335] [KO:K04841] (MARSIS) ZFHX2 [HSA:85446] [KO:K09379] |
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| H00775 | 片麻痺性偏頭痛 | Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree ... | 神経系疾患 |
(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344] (FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539] (FHM3) SCN1A [HSA:6323] [KO:K04833] |
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| H00776 | 先天性眼振 | Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor ... | 神経系疾患 |
(NYS1) FRMD7 [HSA:90167] [KO:K23971] (NYS6) GPR143 [HSA:4935] [KO:K08470] (NYS8) ROBO1 [HSA:6091] [KO:K06753] |
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| H00777 |
短肢・手型脊椎骨端骨幹端異形成 短肢・石灰化異常型脊椎骨端骨幹端異形成 |
Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition ... | 先天奇形 | DDR2 [HSA:4921] [KO:K05125] | |
| H00778 | Tarsal-carpal coalition 症候群 | Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. ... | 先天奇形 | NOG [HSA:9241] [KO:K04658] | |
| H00779 | アッシャー症候群 | Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity ... | 神経系疾患 |
(USH1B) MYO7A [HSA:4647] [KO:K10359] (USH1C) USH1C [HSA:10083] [KO:K21877] (USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813] (USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500] (USH1G) USH1G [HSA:124590] [KO:K21878] (USH1J) CIB2 [HSA:10518] [KO:K23837] (USH1M) ESPN [HSA:83715] [KO:K24047] (USH2A) USH2A [HSA:7399] [KO:K19636] (USH2A/2C) PDZD7 [HSA:79955] [KO:K21882] (USH2B/2C) GPR98 [HSA:84059] [KO:K18263] (USH2D) WHRN [HSA:25861] [KO:K21879] (USH3A) CLRN1 [HSA:7401] [KO:K23841] (USH3B) HARS [HSA:3035] [KO:K01892] (USH4) ARSG [HSA:22901] [KO:K12381] |
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| H00780 | 丘疹を伴う無毛症 | Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations ... | 皮膚疾患 | HR [HSA:55806] [KO:K00478] | |
| H00781 | Schopf-Schulz-Passarge 症候群 | Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma ... | 先天奇形 | WNT10A [HSA:80326] [KO:K01357] | |
| H00782 | 貧毛症および反復性皮膚小水疱 | Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated ... | 皮膚疾患 | DSC3 [HSA:1825] [KO:K07602] |