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22 Possible Causes for Mutation in the HMBS Gene

  • Acute Intermittent Porphyria

    Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation.[ncbi.nlm.nih.gov] Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by mutations in the HMBS gene.[ncbi.nlm.nih.gov] Here, we describe mutations in the ubiquitous promoter (–154delG) and in exon 3 (41delA) that cause the non-erythroid variant.[doi.org]

  • Polycystic Ovary Syndrome

    […] lead to 46,XY females; translocations lead to 46,XX males 480000 SRY-related HMB-box gene 9 ( SOX9 ) Autosomal 46,XY male-to-female sex reversal (campomelic dysplasia) 608160[ncbi.nlm.nih.gov] […] syndrome (KAL3) 607123 [244200] R-spondin family, member 1 ( RSPO1 ) 46,XX, female-to-male sex reversal (individuals contain testes) 609595 Sex-determining region Y ( SRY ) Mutations[ncbi.nlm.nih.gov]

  • Porphyria

    ) in the heme biosynthesis pathway, due to a mutation in the HMBS gene.[sema4genomics.com] Many different mutations have been identified in the HMB-synthase gene. Almost every family with AIP has a different mutation in this gene.[rarediseasesnetwork.org] What genes are related to porphyria? Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.[web.archive.org]

  • Malignant Melanoma

    Given the diagnosis of MM after surgery, the tumor was tested for the mutation in the BRAF gene (which encodes the serine/threonine-protein kinase B-raf) that leads to a V600E[ncbi.nlm.nih.gov] BRAF gene mutations were not detected by the Real-Time PCR. Two months after surgery, liver metastasis was detected.[ncbi.nlm.nih.gov] […] surgery (VATS), histopathologic examination showed evidence of brown melanin pigment in the tumor cells, which were immunohistochemically positive for antimelanoma antibodies (HMB[ncbi.nlm.nih.gov]

  • Ovarian Cystic Teratoma

    BRAF gene mutations were not detected by the Real-Time PCR. Two months after surgery, liver metastasis was detected.[ncbi.nlm.nih.gov] On immunohistochemical analysis, the tumor cells were positive for HMB-45, Melan A, and S-100 protein, and negative for programmed death-ligand 1 (PD-L1).[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    This enzyme deficiency is caused by a mutation in the HMBS gene which is inherited as an autosomal dominant trait (only one HMBS gene copy is affected).[rarediseases.org] […] in hydroxymethylbilane synthase (HMB-synthase) gene, responsible for the third step of heme synthesis - conversion of porphobilinogen (PBG) into uroporphyrinogen.[symptoma.com] gene.[ncbi.nlm.nih.gov]

  • Angiomyolipoma

    AML and LAM are etiologically linked to mutations in the tsc2 and tsc1 genes in the case of LAM.[ncbi.nlm.nih.gov] Both entities are characterized by the proliferation of smooth muscle actin and melanocytic glycoprotein 100 (recognized by antibody HMB-45)-positive spindle-shaped and epithelioid[ncbi.nlm.nih.gov]

  • Lymphangioleiomyomatosis

    AML and LAM are etiologically linked to mutations in the tsc2 and tsc1 genes in the case of LAM.[ncbi.nlm.nih.gov] -45 Click here to view LAM is a rare disorder of unknown etiology, linked with mutations in tuberous sclerosis genes, and angiomyolipomas primarily affecting the kidney.[ijpmonline.org] Both entities are characterized by the proliferation of smooth muscle actin and melanocytic glycoprotein 100 (recognized by antibody HMB-45)-positive spindle-shaped and epithelioid[ncbi.nlm.nih.gov]

  • Hereditary Coproporphyria

    Acute porphyria is caused by autosomal dominant mutations in 1 of 3 genes: HMBS, associated with acute intermittent porphyria (AIP); CPOX, associated with hereditary coproporphyria[mayomedicallaboratories.com] Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.[ghr.nlm.nih.gov] gene.[emedicine.medscape.com]

  • Malignant Anorectal Melanoma

    The prevalence of BRAF gene mutation is less than 10% in mucosal melanoma, and the efficacy of the target therapy with BRAF inhibitors remains unclear compares to cutaneous[tro.amegroups.com] An accurate immunohistochemical profile is crucial for diagnosis, which includes S-100 protein, Melan-A, HMB-45 and Sox10 ( 7 ).[tro.amegroups.com]

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