Dopamine Beta-hydroxylase Deficiency, Congenital

Description

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

Clinical Features

Top most frequent phenotypes and symptoms related to Dopamine Beta-hydroxylase Deficiency, Congenital

  • Seizures
  • Generalized hypotonia
  • Pica
  • Muscular hypotonia
  • Ptosis
  • Milia
  • High palate
  • Peripheral neuropathy
  • Hypertension
  • Hypoglycemia
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Dopamine Beta-hydroxylase Deficiency, Congenital Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for Dopamine Beta-Hydroxylase Deficiency.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

DBH
Specificity
100 %
Genes
50 %
Dopamine beta-hydroxylase deficiency (sequence analysis of DBH gene).

By CGC Genetics in Portugal.

DBH
Specificity
100 %
Genes
50 %
DBH Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

DBH
Specificity
100 %
Genes
50 %
Dopamine beta-hydroxylase (DBH) deficiency.

By Centogene AG - the Rare Disease Company in Germany.

DBH
Specificity
100 %
Genes
50 %
Invitae Neurotransmitter Disorders Panel.

By Invitae in United States.

ABAT, SPR, SLC25A22, GCSH, GLDC, AMT, GAD1, MAOA, ALDH5A1, ALDH7A1, PTS, QDPR, TH, PHGDH, GCH1, PNPO, ARHGEF9, DBH, DDC, SLC6A3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
DBH.

By Fulgent Genetics Fulgent Genetics in United States.

DBH
Specificity
100 %
Genes
50 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
50 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %

Alternate names

Dopamine Beta-hydroxylase Deficiency, Congenital Is also known as norepinephrine deficiency, noradrenaline deficiency;noradrenaline deficiency; norepinephrine deficiency.



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