{ "url": "https://dantelabs.com/pl/genes/alad", "gene": { "slug": "alad", "symbol": "ALAD", "name": "aminolevulinate dehydratase", "hgnc": "HGNC:395", "summary": null, "location": "9q32", "locusType": "gene with protein product", "aliases": [ "ALADH", "PBGS" ], "previousSymbols": [], "ensemblId": "ENSG00000148218", "entrezId": 210, "omim": [ "125270" ], "uniprot": [ "P13716" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 113386312, "end": 113401284, "strand": "-", "ensemblTranscript": "ENST00000409155.8", "refseqTranscript": "NM_000031.6", "ensemblProtein": "ENSP00000386284.3", "refseqProtein": "NP_000022.3", "exons": [ { "start": 113386312, "end": 113388361 }, { "start": 113388977, "end": 113389106 }, { "start": 113389438, "end": 113389524 }, { "start": 113389599, "end": 113389686 }, { "start": 113389773, "end": 113389828 }, { "start": 113390405, "end": 113390493 }, { "start": 113390593, "end": 113390676 }, { "start": 113390798, "end": 113390933 }, { "start": 113391527, "end": 113391623 }, { "start": 113392119, "end": 113392169 }, { "start": 113393447, "end": 113393634 }, { "start": 113401212, "end": 113401284 } ], "cds": { "start": 113388300, "end": 113393559 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 116148597, "end": 116163613, "strand": "-" }, "neighbourhood": { "release": "116", "start": 112893798, "end": 113893797, "genes": [ { "symbol": "ZNF883", "ensemblId": "ENSG00000228623", "biotype": "protein_coding", "start": 112988129, "end": 113012242, "strand": "-", "slug": "znf883" }, { "symbol": "ZFP37", "ensemblId": "ENSG00000136866", "biotype": "protein_coding", "start": 113038377, "end": 113056802, "strand": "-", "slug": "zfp37" }, { "symbol": "SLC31A2", "ensemblId": "ENSG00000136867", "biotype": "protein_coding", "start": 113150951, "end": 113164140, "strand": "+", "slug": "slc31a2" }, { "symbol": "FKBP15", "ensemblId": "ENSG00000119321", "biotype": "protein_coding", "start": 113161006, "end": 113221458, "strand": "-", "slug": "fkbp15" }, { "symbol": "SLC31A1", "ensemblId": "ENSG00000136868", "biotype": "protein_coding", "start": 113221191, "end": 113266935, "strand": "+", "slug": "slc31a1" }, { "symbol": "CDC26", "ensemblId": "ENSG00000176386", "biotype": "protein_coding", "start": 113223011, "end": 113275602, "strand": "-", "slug": "cdc26" }, { "symbol": "PRPF4", "ensemblId": "ENSG00000136875", "biotype": "protein_coding", "start": 113275637, "end": 113295342, "strand": "+", "slug": "prpf4" }, { "symbol": "RNF183", "ensemblId": "ENSG00000165188", "biotype": "protein_coding", "start": 113297093, "end": 113303376, "strand": "-", "slug": "rnf183" }, { "symbol": "WDR31", "ensemblId": "ENSG00000148225", "biotype": "protein_coding", "start": 113313222, "end": 113340337, "strand": "-", "slug": "wdr31" }, { "symbol": "BSPRY", "ensemblId": "ENSG00000119411", "biotype": "protein_coding", "start": 113349515, "end": 113371233, "strand": "+", "slug": "bspry" }, { "symbol": "HDHD3", "ensemblId": "ENSG00000119431", "biotype": "protein_coding", "start": 113373215, "end": 113377473, "strand": "-", "slug": "hdhd3" }, { "symbol": "POLE3", "ensemblId": "ENSG00000148229", "biotype": "protein_coding", "start": 113407232, "end": 113410723, "strand": "-", "slug": "pole3" }, { "symbol": "C9orf43", "ensemblId": "ENSG00000157653", "biotype": "protein_coding", "start": 113410054, "end": 113429690, "strand": "+", "slug": "c9orf43" }, { "symbol": "RGS3", "ensemblId": "ENSG00000138835", "biotype": "protein_coding", "start": 113444731, "end": 113597743, "strand": "+", "slug": "rgs3" }, { "symbol": "ZNF618", "ensemblId": "ENSG00000157657", "biotype": "protein_coding", "start": 113876052, "end": 114056593, "strand": "+", "slug": "znf618" } ], "truncated": false }, "reports": [ { "slug": "hepatic-porphyria-disorders", "name": "Porfirie wątrobowe", "diseases": [ { "mondoId": "MONDO:0002520", "name": "Porfiria wątrobowa", "genes": 8, "inheritance": null, "description": "Grupa chorób metabolicznych wynikających z niedoboru jednego z kilku enzymów wątrobowych biorących udział w szlaku biosyntezy hemu. Charakteryzują się nagromadzeniem i zwiększonym wydalaniem porfiryn lub ich prekursorów. Objawy kliniczne obejmują objawy neurologiczne (porfiria ostra przerywana), zmiany skórne spowodowane fotowrażliwością (porfiria skórna późna) lub oba te rodzaje objawów (koproporfiria dziedziczna). Porfirie wątrobowe mogą być dziedziczne lub nabyte w wyniku uszkodzenia tkanki wątrobowej przez substancje toksyczne.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/hepatic-porphyria-disorders" }, { "slug": "porphyria", "name": "Porfiria", "diseases": [ { "mondoId": "MONDO:0037939", "name": "Porfiria", "genes": 9, "inheritance": null, "description": "Porfiria to grupa chorób, w których gromadzą się substancje zwane porfirynami, negatywnie wpływające na skórę lub układ nerwowy. Większość typów ma podłoże dziedziczne, jednak porfiria skórna późna może również wynikać z nadmiaru żelaza w wątrobie, zakażenia wirusem zapalenia wątroby typu C, nadużywania alkoholu lub zakażenia HIV/AIDS.", "management": "Zapobieganie atakom poprzez unikanie czynników wyzwalających, dożylne podawanie glukozy lub hemin w ostrych atakach, terapia interferencją RNA (givosiran), poradnictwo genetyczne", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/porphyria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abdominal-colic", "name": "Abdominal colic", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/abdominal-colic" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "abnormal-circulating-porphyrin-concentration", "name": "Abnormal circulating porphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-porphyrin-concentration" }, { "slug": "abnormal-erythrocyte-enzyme-concentration-or-activity", "name": "Abnormal erythrocyte enzyme concentration or activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-erythrocyte-enzyme-concentration-or-activity" }, { "slug": "abnormal-fear-induced-behavior", "name": "Abnormal fear-induced behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-fear-induced-behavior" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-skin-morphology", "name": "Abnormal skin structure", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/abnormal-skin-morphology" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "abnormality-of-the-respiratory-system", "name": "Abnormality of the respiratory system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agitation" }, { "slug": "ankle-flexion-contracture", "name": "Ankle flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ankle-flexion-contracture" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/confusion" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "sensory-neuropathy", "name": "Damage to nerves that sense feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensory-neuropathy" }, { "slug": "delirium", "name": "Delirium", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delirium" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "elevated-urinary-delta-aminolevulinic-acid", "name": "Elevated urinary delta-aminolevulinic acid", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-urinary-delta-aminolevulinic-acid" }, { "slug": "episodic-vomiting", "name": "Episodic vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/episodic-vomiting" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fluctuations-in-consciousness", "name": "Fluctuations in consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fluctuations-in-consciousness" }, { "slug": "functional-motor-deficit", "name": "Functional motor deficit", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/functional-motor-deficit" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "increased-erythrocyte-protoporphyrin-concentration", "name": "Increased erythrocyte protoporphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-erythrocyte-protoporphyrin-concentration" }, { "slug": "increased-fecal-coproporphyrin-3", "name": "Increased fecal coproporphyrin 3", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-fecal-coproporphyrin-3" }, { "slug": "increased-urinary-porphobilinogen", "name": "Increased urinary porphobilinogen", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-urinary-porphobilinogen" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "apathy", "name": "Lack of feeling, emotion, interest", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/apathy" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-polyneuropathy", "name": "Motor polyneuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-polyneuropathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myeloproliferative-disorder", "name": "Myeloproliferative disorder", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myeloproliferative-disorder" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "paralysis", "name": "Paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paralysis" }, { "slug": "polyneuropathy", "name": "Peripheral nerve disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polyneuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "purple-urine", "name": "Purple urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/purple-urine" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "respiratory-paralysis", "name": "Respiratory paralysis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-paralysis" }, { "slug": "restlessness", "name": "Restlessness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restlessness" }, { "slug": "ventilator-dependence-with-inability-to-wean", "name": "Ventilator dependence with inability to wean", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventilator-dependence-with-inability-to-wean" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "alas2", "symbol": "ALAS2", "name": "5'-aminolevulinate synthase 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/alas2" }, { "slug": "clpx", "symbol": "CLPX", "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit X", "shared": 2, "url": "https://dantelabs.com/pl/genes/clpx" }, { "slug": "cpox", "symbol": "CPOX", "name": "coproporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/pl/genes/cpox" }, { "slug": "fech", "symbol": "FECH", "name": "ferrochelatase", "shared": 2, "url": "https://dantelabs.com/pl/genes/fech" }, { "slug": "hmbs", "symbol": "HMBS", "name": "hydroxymethylbilane synthase", "shared": 2, "url": "https://dantelabs.com/pl/genes/hmbs" }, { "slug": "ppox", "symbol": "PPOX", "name": "protoporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/pl/genes/ppox" }, { "slug": "urod", "symbol": "UROD", "name": "uroporphyrinogen decarboxylase", "shared": 2, "url": "https://dantelabs.com/pl/genes/urod" }, { "slug": "uros", "symbol": "UROS", "name": "uroporphyrinogen III synthase", "shared": 1, "url": "https://dantelabs.com/pl/genes/uros" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }