HMBS Chromosome 11
Hydroxymethylbilane synthase
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What This Gene Does
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Associated Conditions (24)
Acute intermittent porphyria
Ovarian serous cystadenocarcinoma
Encephalopathy
porphyria-related
HMBS-related disorder
Leukoencephalopathy
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Elevated urinary delta-aminolevulinic acid
Acute episodes of neuropathic symptoms
Anxiety
Abdominal pain
Fever
Vomiting
Emotional lability
Visual loss
Porphyria
acute intermittent
+4 more conditions
Key Variants
RS1004988273
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS1165046276
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Ovarian serous cystadenocarcinoma, Acute intermittent porphyria
Health Risk
RS118204109
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Encephalopathy, porphyria-related
Health Risk
RS118204110
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS140572589
Conflicting classifications of pathogenicity
Health Risk
RS148084355
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS150428209
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS150763621
Conflicting classifications of pathogenicity
Acute intermittent porphyria, HMBS-related disorder, Encephalopathy
Health Risk
RS1592221672
Conflicting classifications of pathogenicity
Health Risk
RS189159450
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS1946318239
Conflicting classifications of pathogenicity
Health Risk
RS201349602
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
All Variants (156)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118204100 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204101 | Health Risk | Pathogenic | Acute intermittent porphyria, Encephalopathy, porphyria-related |
| RS118204104 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204105 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204108 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204112 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204114 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204115 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204116 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204117 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS118204119 | Health Risk | Pathogenic | Encephalopathy, porphyria-related, Encephalopathy |
| RS118204120 | Health Risk | Pathogenic | Acute intermittent porphyria, HMBS-related disorder, Acute intermittent porphyria |
| RS1218605669 | Health Risk | Pathogenic | — |
| RS1285037788 | Health Risk | Pathogenic | — |
| RS1286913162 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1325031228 | Health Risk | Pathogenic | HMBS-related disorder, Acute intermittent porphyria, HMBS-related disorder |
| RS1361137766 | Health Risk | Pathogenic | — |
| RS1411588356 | Health Risk | Pathogenic | — |
| RS1555206128 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1555206402 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565750784 | Health Risk | Pathogenic | Porphyria, acute intermittent, nonerythroid variant |
| RS1565754285 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565754296 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565754452 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565754565 | Health Risk | Pathogenic | Acute intermittent porphyria, Ovarian serous cystadenocarcinoma, Acute intermittent porphyria |
| RS1565755242 | Health Risk | Pathogenic | — |
| RS1565756481 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565757839 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565757857 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565758008 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1565758825 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1592212904 | Health Risk | Pathogenic | Porphyria, acute intermittent, nonerythroid variant |
| RS1592214208 | Health Risk | Pathogenic | — |
| RS1592214498 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1592215117 | Health Risk | Pathogenic | — |
| RS1592215837 | Health Risk | Pathogenic | — |
| RS1592217625 | Health Risk | Pathogenic | Abnormal circulating porphyrin concentration, Abnormal circulating porphyrin concentration |
| RS1592217645 | Health Risk | Pathogenic | — |
| RS1592217847 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1592217853 | Health Risk | Pathogenic | — |
| RS1592219635 | Health Risk | Pathogenic | — |
| RS1592219658 | Health Risk | Pathogenic | — |
| RS1592220835 | Health Risk | Pathogenic | Acute intermittent porphyria, Acute intermittent porphyria |
| RS1946167244 | Health Risk | Pathogenic | — |
| RS1946174844 | Health Risk | Pathogenic | Leukoencephalopathy, porphyria-related, Leukoencephalopathy |
| RS1946283724 | Health Risk | Pathogenic | — |
| RS1946296237 | Health Risk | Pathogenic | — |
| RS1946299495 | Health Risk | Pathogenic | — |
| RS1946325014 | Health Risk | Pathogenic | — |
| RS1946327824 | Health Risk | Pathogenic | — |