KEGG MEDICUS Search Result |
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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02128 | Defects in lysosomal trafficking | Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides ... | Inherited metabolic disorder | ||
| H02129 |
Prune belly syndrome Triad syndrome Eagle-Barret syndrome Abdominal musculature deficiency syndrome |
Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. ... | Congenital malformation | CHRM3 [HSA:1131] [KO:K04131] | |
| H02130 |
Mucolipidosis III Pseudo-Hurler polydystrophy |
Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients ... | Inherited metabolic disorder, Lysosomal disease |
(alpha/beta) GNPTAB [HSA:79158] [KO:K08239] (gamma) GNPTG [HSA:84572] [KO:K10087] |
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| H02131 | UV-sensitive syndrome | UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity ... | Skin disease |
(UVSS1) ERCC6 [HSA:2074] [KO:K10841] (UVSS2) ERCC8 [HSA:1161] [KO:K10570] (UVSS3) UVSSA [HSA:57654] [KO:K23720] |
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| H02132 | Microcephaly syndrome | Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... | Congenital malformation |
(MCPHSBA) MED17 [HSA:9440] [KO:K15133] (MSCCA) QARS [HSA:5859] [KO:K01886] (MCCPD) MSMO1 [HSA:6307] [KO:K07750] (MEDS1) IER3IP1 [HSA:51124] [KO:K22939] (MEDS2) YIPF5 [HSA:81555] [KO:K20363] (MIMIS) DONSON [HSA:29980] [KO:K22422] (MSSP) RTTN [HSA:25914] [KO:K16484] (MFRG) CTU2 [HSA:348180] [KO:K14169] (MCIDDS) KCNA4 [HSA:3739] [KO:K04877] (MIGSB) WDR4 [HSA:10785] [KO:K15443] (MDBH) CARS1 [HSA:833] [KO:K01883] |
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| H02133 |
Vici syndrome Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum |
Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and ... | Immune system disease | EPG5 [HSA:57724] [KO:K23883] | |
| H02134 |
Microphthalmia with limb anomalies Anophthalmia-syndactyly syndrome Waardenburg anophthalmia syndrome Ophthalmoacromelic syndrome |
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral ... | Congenital malformation | SMOC1 [HSA:64093] [KO:K24354] | |
| H02135 | Cone-rod dystrophy and hearing loss | Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating ... | Nervous system disease |
(CRDHL1) CEP78 [HSA:84131] [KO:K16765] (CRDHL2) CEP250 [HSA:11190] [KO:K16464] |
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| H02136 |
Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK deficiency |
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low ... | Inherited metabolic disorder | BCKDK [HSA:10295] [KO:K00905] | |
| H02137 | Laurence-Moon syndrome | Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, ... | Nervous system disease | PNPLA6 [HSA:10908] [KO:K14676] | |
| H02138 | Hereditary hypophophatemic rickets with hypercalciuria | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients ... | Inherited metabolic disorder | SLC34A3 [HSA:142680] [KO:K14683] | |
| H02139 | Autosomal recessive hypophosphatemic rickets | Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially ... | Inherited metabolic disorder |
(ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] |
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| H02140 | Boucher-Neuhauser syndrome | Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ... | Nervous system disease | PNPLA6 [HSA:10908] [KO:K14676] | |
| H02141 | Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone ... | Inherited metabolic disorder | FGF23 [HSA:8074] [KO:K22428] | |
| H02142 | X-linked recessive hypophosphatemic rickets | X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for ... | Inherited metabolic disorder | CLCN5 [HSA:1184] [KO:K05012] | |
| H02143 | X-linked dominant hypophosphatemic rickets | X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia ... | Inherited metabolic disorder | PHEX [HSA:5251] [KO:K08636] | |
| H02144 |
Gordon Holmes syndrome Cerebellar ataxia and hypogonadotropic hypogonadism |
Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism ... | Nervous system disease | RNF216 [HSA:54476] [KO:K11976] | |
| H02145 |
Calcium oxalate nephrolithiasis Calcium oxalate urolithiasis |
Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children ... | Urinary system disease |
(CAON1) SLC26A1 [HSA:10861] [KO:K14700] (CAON2) OXGR1 [HSA:27199] [KO:K08419] |
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| H02146 |
Glass syndrome Chromosome 2q32-q33 deletion syndrome SATB2-associated syndrome |
Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial ... | Chromosomal abnormality | SATB2 [HSA:23314] [KO:K23226] | |
| H02147 | X-linked recessive nephrolithiasis with renal failure | X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal ... | Urinary system disease | CLCN5 [HSA:1184] [KO:K05012] | |
| H02148 | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities ... | Urinary system disease | CLCN5 [HSA:1184] [KO:K05012] | |
| H02149 | X-linked hypercalciuric nephrolithiasis | X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular ... | Urinary system disease | CLCN5 [HSA:1184] [KO:K05012] | |
| H02150 | Infantile or early childhood epileptic encephalopathy | Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de ... | Nervous system disease |
(IECEE1) PPP3CA [HSA:5530] [KO:K04348] (IECEE2) GABRB2 [HSA:2561] [KO:K05181] (IECEE3) ATP6V1A [HSA:523] [KO:K02145] |
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| H02151 | Hereditary congenital facial paresis | Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with ... | Congenital malformation | (HCFP3) HOXB1 [HSA:3211] [KO:K09301] | |
| H02152 |
Transient familial neonatal hyperbilirubinemia Lucey-Driscoll syndrome |
Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has ... | Inherited metabolic disorder | UGT1A1 [HSA:54658] [KO:K00699] | |
| H02153 |
Megalencephaly-capillary malformation syndrome MCAP syndrome |
Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective ... | Congenital malformation | PIK3CA [HSA:5290] [KO:K00922] | |
| H02154 | Omodysplasia | Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican ... | Congenital malformation |
(OMOD1) GPC6 [HSA:10082] [KO:K08112] (OMOD2) FZD2 [HSA:2535] [KO:K02235] |
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| H02155 | Dyssegmental dysplasia | The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois ... | Congenital malformation | HSPG2 [HSA:3339] [KO:K06255] | |
| H02156 |
Lamb-Shaffer syndrome 12p12.1 microdeletion syndrome |
Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused ... | Chromosomal abnormality | SOX5 [HSA:6660] [KO:K09269] | |
| H02157 | Short-rib thoracic dysplasia | Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... | Congenital malformation |
(SRTD2) IFT80 [HSA:57560] [KO:K19678] (SRTD3) DYNC2H1 [HSA:79659] [KO:K10414] (SRTD4) TTC21B [HSA:79809] [KO:K19673] (SRTD5) WDR19 [HSA:57728] [KO:K19671] (SRTD6) NEK1 [HSA:4750] [KO:K08857] (SRTD7) WDR35 [HSA:57539] [KO:K19674] (SRTD8) DYNC2I1 [HSA:55112] [KO:K22869] (SRTD9) IFT140 [HSA:9742] [KO:K19672] (SRTD10) IFT172 [HSA:26160] [KO:K19676] (SRTD11) DYNC2I2 [HSA:89891] [KO:K22868] (SRTD13) CEP120 [HSA:153241] [KO:K16459] (SRTD14) JBTS23 [HSA:9786] [KO:K22865] (SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417] (SRTD16) IFT52 [HSA:51098] [KO:K19681] (SRTD17) DYNLT2B [HSA:255758] [KO:K22866] (SRTD18) IFT43 [HSA:112752] [KO:K19675] (SRTD19) IFT81 [HSA:28981] [KO:K19677] (SRTD20) INTU [HSA:27152] [KO:K22862] (SRTD21) JBTS38 [HSA:9851] [KO:K21765] |
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| H02158 |
Weyers acrofacial dysostosis Curry-Hall syndrome |
Weyers acrofacial dysostosis (WAD), also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused ... | Congenital malformation |
EVC1 [HSA:2121] [KO:K19605] EVC2 [HSA:132884] [KO:K19608] |
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| H02159 |
Familial cold autoinflammatory syndrome Familial cold urticaria |
Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis ... | Immune system disease |
(FCAS1) NALP3 [HSA:114548] [KO:K12800] (FCAS2) NALP12 [HSA:91662] [KO:K20865] (FCAS3) PLCG2 [HSA:5336] [KO:K05859] (FCAS4) NLRC4 [HSA:58484] [KO:K12805] |
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| H02160 | Craniosynostoses | Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape. | Congenital malformation |
(CRS1) TWIST1 [HSA:7291] [KO:K09069] (CRS2) MSX2 [HSA:4488] [KO:K09341] (CRS3) TCF12 [HSA:6938] [KO:K15603] (CRS4) ERF [HSA:2077] [KO:K09434] (CRS5) ALX4 [HSA:60529] [KO:K09451] (CRS6) ZIC1 [HSA:7545] [KO:K09224] (CRS7) SMAD6 [HSA:4091] [KO:K04677] |
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| H02161 | Greig cephalopolysyndactyly syndrome | Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused ... | Congenital malformation | GLI3 [HSA:2737] [KO:K06230] | |
| H02162 | Viral hepatitis | Viral hepatitis is liver inflammation due to infection by viruses. There are five major hepatotropic viruses, which are different in viral taxonomy. Among them hepatitis B virus (HBV) and hepatitis C virus ... | Viral infectious disease | ||
| H02163 | Oropouche fever | Oropouche fever is an infectious disease caused by Oropouche virus (OROV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by mosquitoes and biting midges. OROV was first ... | Viral infectious disease | ||
| H02164 | Sandfly fever | Sandfly fever is an infectious disease caused by Sandfly fever Naples virus (SFNV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by biting midges and mosquitoes. SFNV was ... | Viral infectious disease | ||
| H02165 | Colorado tick fever | Colorado tick fever is an infectious disease caused by Colorado tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor ... | Viral infectious disease | ||
| H02166 | Saint Louis encephalitis | Saint Louis encephalitis is an infection of the central nervous system caused by Saint Louis encephalitis virus (SLEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex ... | Viral infectious disease | ||
| H02167 | Lymphedema-distichiasis syndrome | Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be ... | Congenital malformation | FOXC2 [HSA:2303] [KO:K09396] |
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