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"strand": "-", "slug": "tipe3" } ], "truncated": false }, "reports": [ { "slug": "familial-hypomagnesemia", "name": "Šeimyninė hipomagnezemija", "diseases": [ { "mondoId": "MONDO:0018100", "name": "Šeimyninė pirminė hipomagnezemija", "genes": 9, "inheritance": null, "description": "Paveldimų magnio netekties sutrikimų grupė, kurią sukelia variantai genuose, pavyzdžiui, CLDN16, CLDN19, TRPM6, CNNM2 ir FXYD2; CLDN16 ir CLDN19 formos gali progresuoti iki lėtinės inkstų ligos.", "management": "Magnio papildai gali kontroliuoti simptomus, o kai kurioms formoms reikalinga inkstų funkcijos ir akių stebėsena.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/familial-hypomagnesemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-lower-motor-neuron-morphology", "name": "Abnormal lower motor neuron morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-lower-motor-neuron-morphology" }, { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "amyotrophic-lateral-sclerosis", "name": "Lou Gehrig's disease", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "paralysis", "name": "Paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paralysis" }, { "slug": "platelet-anisocytosis", "name": "Platelet anisocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/platelet-anisocytosis" }, { "slug": "prolonged-bleeding-after-dental-extraction", "name": "Prolonged bleeding after dental extraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction" }, { "slug": "prolonged-bleeding-after-surgery", "name": "Prolonged bleeding after surgery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery" } ], "related": [ { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp1a1" }, { "slug": "cldn16", "symbol": "CLDN16", "name": "claudin 16", "shared": 1, "url": "https://dantelabs.com/lt/genes/cldn16" }, { "slug": "cldn19", "symbol": "CLDN19", "name": "claudin 19", "shared": 1, "url": "https://dantelabs.com/lt/genes/cldn19" }, { "slug": "cnnm2", "symbol": "CNNM2", "name": "cyclin and CBS domain divalent metal cation transport mediator 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/cnnm2" }, { "slug": "fxyd2", "symbol": "FXYD2", "name": "FXYD domain containing ion transport regulator 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/fxyd2" }, { "slug": "rragd", "symbol": "RRAGD", "name": "Ras related GTP binding D", "shared": 1, "url": "https://dantelabs.com/lt/genes/rragd" }, { "slug": "trpm6", "symbol": "TRPM6", "name": "transient receptor potential cation channel subfamily M member 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/trpm6" }, { "slug": "trpv6", "symbol": "TRPV6", "name": "transient receptor potential cation channel subfamily V member 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/trpv6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }