{ "url": "https://dantelabs.com/fr/genes/abcd4", "gene": { "slug": "abcd4", "symbol": "ABCD4", "name": "ATP binding cassette subfamily D member 4", "hgnc": "HGNC:68", "summary": null, "location": "14q24.3", "locusType": "gene with protein product", "aliases": [ "PMP69", "P70R", "EST352188" ], "previousSymbols": [ "PXMP1L" ], "ensemblId": "ENSG00000119688", "entrezId": 5826, "omim": [ "603214" ], "uniprot": [ "O14678" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 74285269, "end": 74302934, "strand": "-", "ensemblTranscript": "ENST00000356924.9", "refseqTranscript": "NM_005050.4", "ensemblProtein": "ENSP00000349396.4", "refseqProtein": "NP_005041.1", "exons": [ { "start": 74285269, "end": 74286529 }, { "start": 74286701, "end": 74286816 }, { "start": 74287810, "end": 74287886 }, { "start": 74288207, "end": 74288259 }, { "start": 74288716, "end": 74288765 }, { "start": 74289483, "end": 74289519 }, { "start": 74290027, "end": 74290118 }, { "start": 74290291, 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"symbol": "ZNF410", "ensemblId": "ENSG00000119725", "biotype": "protein_coding", "start": 73886201, "end": 73932521, "strand": "+", "slug": "znf410" }, { "symbol": "FAM161B", "ensemblId": "ENSG00000156050", "biotype": "protein_coding", "start": 73931501, "end": 73950414, "strand": "-", "slug": "fam161b" }, { "symbol": "COQ6", "ensemblId": "ENSG00000119723", "biotype": "protein_coding", "start": 73949926, "end": 73963670, "strand": "+", "slug": "coq6" }, { "symbol": "ENTPD5", "ensemblId": "ENSG00000187097", "biotype": "protein_coding", "start": 73956688, "end": 74019399, "strand": "-", "slug": "entpd5" }, { "symbol": "BBOF1", "ensemblId": "ENSG00000119636", "biotype": "protein_coding", "start": 74019341, "end": 74082863, "strand": "+", "slug": "bbof1" }, { "symbol": "ALDH6A1", "ensemblId": "ENSG00000119711", "biotype": "protein_coding", "start": 74055997, "end": 74084492, "strand": "-", "slug": "aldh6a1" }, { "symbol": "LIN52", "ensemblId": "ENSG00000205659", "biotype": "protein_coding", "start": 74084943, "end": 74201493, "strand": "+", "slug": "lin52" }, { "symbol": "VSX2", "ensemblId": "ENSG00000119614", "biotype": "protein_coding", "start": 74239449, "end": 74262738, "strand": "+", "slug": "vsx2" }, { "symbol": "VRTN", "ensemblId": "ENSG00000133980", "biotype": "protein_coding", "start": 74303069, "end": 74360011, "strand": "+", "slug": "vrtn" }, { "symbol": "SYNDIG1L", "ensemblId": "ENSG00000183379", "biotype": "protein_coding", "start": 74405894, "end": 74426325, "strand": "-", "slug": "syndig1l" }, { "symbol": "NPC2", "ensemblId": "ENSG00000119655", "biotype": "protein_coding", "start": 74427119, "end": 74494177, "strand": "-", "slug": "npc2" }, { "symbol": "ISCA2", "ensemblId": "ENSG00000165898", "biotype": "protein_coding", "start": 74493721, "end": 74499758, "strand": "+", "slug": "isca2" }, { "symbol": "LTBP2", "ensemblId": "ENSG00000119681", "biotype": "protein_coding", "start": 74498163, "end": 74612378, "strand": "-", "slug": "ltbp2" }, { "symbol": "AREL1", "ensemblId": "ENSG00000119682", "biotype": "protein_coding", "start": 74653437, "end": 74713117, "strand": "-", "slug": "arel1" }, { "symbol": "FCF1", "ensemblId": "ENSG00000119616", "biotype": "protein_coding", "start": 74713144, "end": 74750706, "strand": "+", "slug": "fcf1" }, { "symbol": "YLPM1", "ensemblId": "ENSG00000119596", "biotype": "protein_coding", "start": 74763289, "end": 74859435, "strand": "+", "slug": "ylpm1" } ], "truncated": false }, "reports": [ { "slug": "homocystinuria-and-cobalamin-disorders", "name": "Homocystinurie et troubles du métabolisme de la cobalamine", "diseases": [ { "mondoId": "MONDO:0004737", "name": "Homocystinurie", "genes": 10, "inheritance": "autosomal-recessive", "description": "Comprend l'homocystinurie classique due à un déficit en CBS, le déficit sévère en MTHFR ainsi que les troubles combinés et de reméthylation de la cobalamine, qui peuvent provoquer une luxation du cristallin, des caillots sanguins, des anomalies squelettiques, une anémie et des troubles du développement.", "management": "Le fait de les connaître permet un traitement adapté par vitamine B6, vitamine B12, folates, bétaïne et régime alimentaire, ce qui peut prévenir la luxation du cristallin, la thrombose et d'autres complications.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019220", "name": "Maladies congénitales du métabolisme et du transport de la cobalamine", "genes": 15, "inheritance": "autosomal-recessive", "description": "Comprend les anomalies d'absorption et de transport de la vitamine B12, telles que le syndrome d'Imerslund-Gräsbeck (CUBN, AMN), le déficit en facteur intrinsèque (CBLIF) et le déficit en transcobalamine II (TCN2), ainsi que les anomalies du traitement intracellulaire de la cobalamine, qui peuvent provoquer une anémie mégaloblastique, des lésions nerveuses et un retard de croissance.", "management": "Le fait de les connaître permet des injections de vitamine B12 à vie ou un autre traitement par cobalamine, ce qui peut prévenir l'anémie et les lésions neurologiques.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/homocystinuria-and-cobalamin-disorders" }, { "slug": "methylmalonic-and-propionic-acidemia", "name": "Acidémie méthylmalonique et propionique", "diseases": [ { "mondoId": "MONDO:0002012", "name": "Acidémie méthylmalonique", "genes": 12, "inheritance": "autosomal-recessive", "description": "Causée par des variants dans MMUT, MMAA, MMAB, MCEE et d'autres gènes impliqués dans le traitement de la cobalamine, pouvant provoquer des vomissements, une mauvaise prise alimentaire, des crises métaboliques, des troubles du développement et une maladie rénale.", "management": "La connaissance de ce résultat permet une prise en charge diététique spécialisée, la prise de carnitine, de vitamine B12 pour les formes répondant à ce traitement, et un plan d'urgence, ce qui réduit le risque de crises.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/methylmalonic-and-propionic-acidemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-posturing", "name": "Abnormal posturing", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-posturing" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "bell-shaped-thorax", "name": "Bell-shaped thorax", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bell-shaped-thorax" }, { "slug": "decreased-circulating-adenosylcobalamin-concentration", "name": "Decreased circulating adenosylcobalamin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/decreased-circulating-adenosylcobalamin-concentration" }, { "slug": "decreased-circulating-methylcobalamin-concentration", "name": "Decreased circulating methylcobalamin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-methylcobalamin-concentration" }, { "slug": "decreased-methionine-synthase-activity", "name": "Decreased methionine synthase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-methionine-synthase-activity" }, { "slug": "hypomethioninemia", "name": "Decreased plasma methionine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypomethioninemia" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "hyperhomocystinemia", "name": "Elevated blood homocystine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperhomocystinemia" }, { "slug": "elevated-circulating-propionylcarnitine-concentration", "name": "Elevated circulating propionylcarnitine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-propionylcarnitine-concentration" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fetal-distress", "name": "Fetal distress", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fetal-distress" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "homocystinuria", "name": "High urine homocystine levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/homocystinuria" }, { "slug": "horizontal-ribs", "name": "Horizontal ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/horizontal-ribs" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "tachypnea", "name": "Increased respiratory rate or depth of breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/tachypnea" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "methylmalonic-acidemia", "name": "Methylmalonic acidemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/methylmalonic-acidemia" }, { "slug": "methylmalonic-aciduria", "name": "Methylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/methylmalonic-aciduria" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "normochromic-anemia", "name": "Normochromic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/normochromic-anemia" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "wide-intermamillary-distance", "name": "Wide-spaced nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-intermamillary-distance" } ], "related": [ { "slug": "hcfc1", "symbol": "HCFC1", "name": "host cell factor C1", "shared": 3, "url": "https://dantelabs.com/fr/genes/hcfc1" }, { "slug": "lmbrd1", "symbol": "LMBRD1", "name": "LMBR1 domain containing 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/lmbrd1" }, { "slug": "mmachc", "symbol": "MMACHC", "name": "metabolism of cobalamin associated C", "shared": 3, "url": "https://dantelabs.com/fr/genes/mmachc" }, { "slug": "mmadhc", "symbol": "MMADHC", "name": "metabolism of cobalamin associated D", "shared": 3, "url": "https://dantelabs.com/fr/genes/mmadhc" }, { "slug": "prdx1", "symbol": "PRDX1", "name": "peroxiredoxin 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/prdx1" }, { "slug": "cd320", "symbol": "CD320", "name": "CD320 molecule", "shared": 2, "url": "https://dantelabs.com/fr/genes/cd320" }, { "slug": "mmaa", "symbol": "MMAA", "name": "metabolism of cobalamin associated A", "shared": 2, "url": "https://dantelabs.com/fr/genes/mmaa" }, { "slug": "mmab", "symbol": "MMAB", "name": "metabolism of cobalamin associated B", "shared": 2, "url": "https://dantelabs.com/fr/genes/mmab" }, { "slug": "mtr", "symbol": "MTR", "name": "5-methyltetrahydrofolate-homocysteine methyltransferase", "shared": 2, "url": "https://dantelabs.com/fr/genes/mtr" }, { "slug": "mtrr", "symbol": "MTRR", "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase", "shared": 2, "url": "https://dantelabs.com/fr/genes/mtrr" }, { "slug": "acsf3", "symbol": "ACSF3", "name": "acyl-CoA synthetase family member 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/acsf3" }, { "slug": "amn", "symbol": "AMN", "name": "amnion associated transmembrane protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/amn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }