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Dopamine beta hydroxylase deficiency

MedGen UID:
341722
Concept ID:
C1857209
Disease or Syndrome
Synonyms: Dopamine beta-hydroxylase deficiency, congenital; Noradrenaline deficiency; Norepinephrine deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): DBH (9q34.2)
OMIM®: 223360

Disease characteristics

Excerpted from the GeneReview: Dopamine Beta-Hydroxylase Deficiency
Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain. Life expectancy is unknown, but some affected individuals have lived beyond 60 years. [from GeneReviews]
Authors:
David Robertson  |  Emily M Garland   view full author information

Additional description

From GHR
Dopamine beta (ß)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).Individuals with dopamine ß-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine ß-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.Other features of dopamine ß-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.  http://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency

Clinical features

Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Finding
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Nocturia
MedGen UID:
14440
Concept ID:
C0028734
Disease or Syndrome
Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS).
Retrograde ejaculation
MedGen UID:
98338
Concept ID:
C0403673
Pathologic Function
The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Finding
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Neonatal hypoglycemia
MedGen UID:
57646
Concept ID:
C0158986
Finding
Hypoglycemia that occurs during the neonatal period. Causes include inadequate hepatic glycogen stores, inadequate lipid stores, or inadequate amino acid muscle stores. Signs and symptoms include tachypnea, respiratory distress, tachycardia or bradycardia, lethargy, and seizures.
Intermittent hypothermia
MedGen UID:
332504
Concept ID:
C1837639
Finding
Episodes of reduced body termperature.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Recent clinical studies

Etiology

Gold MS, Blum K, Oscar-Berman M, Braverman ER
Postgrad Med 2014 Jan;126(1):153-77. doi: 10.3810/pgm.2014.01.2735. PMID: 24393762Free PMC Article
Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Jepma M, Deinum J, Asplund CL, Rombouts SA, Tamsma JT, Tjeerdema N, Spapé MM, Garland EM, Robertson D, Lenders JW, Nieuwenhuis S
Neuropsychopharmacology 2011 Jul;36(8):1608-19. Epub 2011 Apr 6 doi: 10.1038/npp.2011.42. [Epub ahead of print] PMID: 21471955Free PMC Article
Magnifico F, Misra VP, Murray NM, Mathias CJ
Clin Auton Res 1998 Jun;8(3):133-8. PMID: 9651662
Smith GD, Watson LP, Pavitt DV, Mathias CJ
J Physiol 1995 Apr 1;484 ( Pt 1):255-65. PMID: 7602525Free PMC Article

Diagnosis

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791
Scurrah NJ, Ross AW, Solly M
Anaesth Intensive Care 2002 Aug;30(4):484-6. PMID: 12180590
O'Connor DT, Cervenka JH, Stone RA, Levine GL, Parmer RJ, Franco-Bourland RE, Madrazo I, Langlais PJ, Robertson D, Biaggioni I
Clin Sci (Lond) 1994 Feb;86(2):149-58. PMID: 8143425
Biaggioni I, Goldstein DS, Atkinson T, Robertson D
Neurology 1990 Feb;40(2):370-3. PMID: 2300263

Therapy

Kaufmann H, Norcliffe-Kaufmann L, Palma JA
Expert Rev Cardiovasc Ther 2015;13(8):875-91. Epub 2015 Jun 19 doi: 10.1586/14779072.2015.1057504. [Epub ahead of print] PMID: 26092297Free PMC Article
Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Thompson JM, O'Callaghan CJ, Kingwell BA, Lambert GW, Jennings GL, Esler MD
J Auton Nerv Syst 1995 Nov 6;55(3):198-206. PMID: 8801271
Man in 't Veld AJ, Boomsma F, van den Meiracker AH, Schalekamp MA
Lancet 1987 Nov 21;2(8569):1172-5. PMID: 2890807
Biaggioni I, Robertson D
Lancet 1987 Nov 21;2(8569):1170-2. PMID: 2890806

Prognosis

Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I
Neurology 2011 Feb 1;76(5):456-60. doi: 10.1212/WNL.0b013e31820a0caf. PMID: 21282592Free PMC Article
Senard JM, Rouet P
Orphanet J Rare Dis 2006 Mar 30;1:7. doi: 10.1186/1750-1172-1-7. [Epub ahead of print] PMID: 16722595Free PMC Article

Clinical prediction guides

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol 2013 Aug;156(2):370-374.e2. Epub 2013 Apr 24 doi: 10.1016/j.ajo.2013.03.009. [Epub ahead of print] PMID: 23622564Free PMC Article
Jepma M, Deinum J, Asplund CL, Rombouts SA, Tamsma JT, Tjeerdema N, Spapé MM, Garland EM, Robertson D, Lenders JW, Nieuwenhuis S
Neuropsychopharmacology 2011 Jul;36(8):1608-19. Epub 2011 Apr 6 doi: 10.1038/npp.2011.42. [Epub ahead of print] PMID: 21471955Free PMC Article
Garland EM, Raj SR, Peltier AC, Robertson D, Biaggioni I
Neurology 2011 Feb 1;76(5):456-60. doi: 10.1212/WNL.0b013e31820a0caf. PMID: 21282592Free PMC Article
Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791
Tulen JH, Man in't Veld AJ, Mechelse K, Boomsma F
J Neurol 1990 Apr;237(2):98-102. PMID: 2355243

Recent systematic reviews

Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T
Am J Med Genet A 2010 Mar;152A(3):732-6. doi: 10.1002/ajmg.a.33269. PMID: 20186791

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