ORPHA:230
Dopamine beta-hydroxylase deficiency
Synonyms: DBH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dopamine beta-hydroxylase deficiency | DBH deficiency |
| fr | Déficit en dopamine bêta-hydroxylase | Déficit en DBH |
| de | Dopamin-beta-Hydroxylase-Mangel | DBH-Mangel · Noradrenalin-Mangel |
| es | Deficiencia de dopamina beta-hidroxilasa | Deficiencia de DBH |
| it | Deficit di dopamina beta-idrossilasi | Deficit di DBH |
| nl | Deficiëntie van dopamine-bèta-hydroxylase | DBH-deficiëntie |
| pt | Deficiência de dopamina beta-hidroxilase | Deficiência de DBH |
| pl | Niedobór beta-hydroksylazy dopaminy | Niedobór noradrenaliny · Niedobór norepinefryny |
| cs | Deficit dopamin beta-hydroxylázy | Deficit noradrenalinu · Deficit norepinefrinu |
| uk | Дефіцит бета-гідроксилази дофаміну | Дефіцит DBH |
| zh | 多巴胺β羟化酶缺乏 | 去甲肾上腺素缺乏症 |
| tr | Dopamin beta-hidroksilaz eksikliği | Noradrenalin eksikliği · Norepinefrin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223360 | E | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | 5C59.00 | NTBT | index | validated |
| MONDO | 0009123 | E | validated | |
| MeSH | C535600 | E | validated | |
| UMLS | C0342687 | E | validated | |
| GARD | 1903 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:309830Disorder of catecholamine synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:448426Genetic primary orthostatic hypotension
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:182058Primary orthostatic hypotension
rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DBH | Disease-causing germline mutation(s) in | Assessed | HGNC:2689 | ENSG00000123454 | 609312 | 9q34.2 | dopamine beta-hydroxylase | 20301647[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 33034372[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33034372[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2019-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001488 | Bilateral ptosis | |
| HP:0011979 | Elevated urinary dopamine | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0012384 | Rhinitis | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0012378 | Fatigue | |
| HP:0001943 | Hypoglycemia | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0012877 | Retrograde ejaculation | |
| HP:0002360 | Sleep abnormality | |
| HP:0001279 | Syncope | |
| Occasional (29-5%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0000622 | Blurred vision | |
| HP:0100749 | Chest pain | |
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0002094 | Dyspnea | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0000017 | Nocturia | |
| HP:0012670 | Orthostatic syncope | |
| HP:0002321 | Vertigo | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000842 | Hyperinsulinemia | |
| HP:0000855 | Insulin resistance | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27778639[PMID]_20301647[PMID]_2300263[PMID]_3010116[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/230
- This record as JSON: /data/d/230.json