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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00147 | Sialuria | ... differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid. | Inherited metabolic disorder, Lysosomal disease |
(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409] |
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| H00240 | Gitelman syndrome | ... autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter | Endocrine and metabolic disease | SLC12A3 [HSA:6559] [KO:K14426] | |
| H00370 | Progressive multifocal leukoencephalopathy | ... by the JC polyomavirus that occurs in immunosuppressed individuals such as patients with AIDS. Patients with PML show white matter lesions on head computed tomography scan or magnetic resonance imaging. | Viral infectious disease | ||
| H00594 | Distal myopathy | Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... | Nervous system disease; Musculoskeletal disease |
(MMD1,DMAT) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] (NM) GNE [HSA:10020] [KO:K12409] (DMRV) SQSTM1 [HSA:8878] [KO:K14381] (WDM) TIA1 [HSA:7072] [KO:K13201] (TMD) TTN [HSA:7273] [KO:K12567] (MPD1) MYH7 [HSA:4625] [KO:K17751] (MPD3) HNRNPA1 [HSA:3178] [KO:K12741] (MPD4) FLNC [HSA:2318] [KO:K27393] (MPD5) ADSS1 [HSA:122622] [KO:K01939] (MPD6) ACTN2 [HSA:88] [KO:K21073] (MPD7) SMPX [HSA:23676] [KO:K24209] (MPDT) CAV3 [HSA:859] [KO:K12959] |
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| H00596 |
Nonaka myopathy (NM) Nonaka distal myopathy Hereditary inclusion body myopathy (HIBM) |
... myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis ... | Nervous system disease; Musculoskeletal disease | GNE [HSA:10020] [KO:K12409] | |
| H00805 | Vitreoretinal degeneration | ... respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations ... | Nervous system disease |
(STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (SVD) KCNJ13 [HSA:3769] [KO:K05006] (WGVRP) VCAN [HSA:1462] [KO:K06793] (KNO1) COL18A1 [HSA:80781] [KO:K06823] (ESCS) NR2E3 [HSA:10002] [KO:K08546] (VRCP) BEST1 [HSA:7439] [KO:K13878] |
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| H00875 | Megaloencephalic leukoencephalopathy with subcortical cysts | ... macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal ... | Nervous system disease |
(MLC1) MLC1 [HSA:23209] [KO:K20070] (MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116] (MLC3) GPRC5B [HSA:51704] [KO:K04619] (MLC4) AQP4 [HSA:361] [KO:K09866] |
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| H00878 | Cystic leukoencephalopathy without megalencephaly | ... encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior ... | Inherited metabolic disorder | RNASET2 [HSA:8635] [KO:K01166] | |
| H00958 |
Congenital stromal corneal dystrophy Congenital hereditary stromal dystrophy Witschel dystrophy |
... morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting ... | Nervous system disease | DCN [HSA:1634] [KO:K04660] | |
| H00978 | Thrombocytopenia (THC) | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | Hematologic disease |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
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| H01206 | Plasminogen deficiency | ... distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency ... | Hematologic disease | PLG [HSA:5340] [KO:K01315] | |
| H01210 | Hypomagnesemia | Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution ... | Inherited metabolic disorder |
(HOMG1) TRPM6 [HSA:140803] [KO:K04981] (HOMG2) FXYD2 [HSA:486] [KO:K01538] (HOMG3) CLDN16 [HSA:10686] [KO:K06087] (HOMG4) EGF [HSA:1950] [KO:K04357] (HOMG5) CLDN19 [HSA:149461] [KO:K06087] (HOMG6/HOMGSMR1) CNNM2 [HSA:54805] [KO:K16302] (HOMG7) RRAGD [HSA:58528] [KO:K16186] (HOMGSMR2) ATP1A1 [HSA:476] [KO:K01539] |
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| H01388 | Hyperprolactinemia | ... by drugs or by tumors in the anterior pituitary gland, which are usually identifiable by means of magnetic resonance imaging (MRI). Some cases are due to prolactinomas and lesions in the pituitary stalk ... | Endocrine and metabolic disease | PRLR [HSA:5618] [KO:K05081] | |
| H01607 | Galactorrhea | ... failure. Tests for pregnancy, serum prolactin level and serum thyroid-stimulating hormone level, and magnetic resonance imaging are important diagnostic tools that should be employed when clinically indicated ... | Reproductive system disease | ||
| H01650 | Pemphigoid | ... drugs, with distinct mechanisms of action, are used to treat BP: anti-inflammatory drugs, drugs designed to reduce the production of pathogenic antibodies, and treatments that increase the elimination ... | Immune system disease; Skin disease | ||
| H01811 | Arima syndrome | ... neuroradiological features with Joubert syndrome and related disorders, that is called ciliopathy. On brain magnetic resonance imaging (MRI), AS shows characteristic anomalies of the brainstem and cerebellum, such ... | Congenital malformation | ||
| H01835 | Neuronal migration disorder | ... defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging. | Congenital malformation | ||
| H01838 |
Mandibulofacial dysostosis with microcephaly Mandibulofacial dysostosis, Guion-Almeida type |
... affected individuals have also presented with delayed brain myelination and abnormal white matter on magnetic resonance imaging (MRI), choanal and aural atresia, cleft palate, congenital heart defects, bilateral ... | Congenital malformation | EFTUD2 [HSA:9343] [KO:K12852] | |
| H02073 | Wagner syndrome | Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN ... | Nervous system disease | VCAN [HSA:1462] [KO:K06793] | |
| H02314 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | ... side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated ... | Endocrine and metabolic disease | CYP11A1 [HSA:1583] [KO:K00498] | |
| H02613 | Brunet-Wagner neurodevelopmental syndrome | Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic ... | Congenital malformation | RBL2 [HSA:5934] [KO:K16332] | |
| H02769 | Tolchin-Le Caignec syndrome | Tolchin-Le Caignec syndrome (TOLCAS) is a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas. It has been reported that mutations in SOX6 cause this syndrome. SOX6 ... | Congenital malformation | SOX6 [HSA:55553] [KO:K09269] |
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