Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
/
A–Z

CATECHOLAMINE-RELATED MOLECULES & DISORDERS

Laboratory / DiagnosticsOMIM 612349
W
View full entry on WUSTL Neuromuscular
lab/catechol.htm#CATECHOLAMINE-RELATED MOLECULES & DISORDERS 1

Overview

From WUSTL Neuromuscular

Molecules Disorders Aldehyde dehydrogenases Aldehyde reductases Carbinolamine dehydratase (PCBD) Catechol-O-methyltransferase Copper transporting ATPase 1 Dihydropteridine reductase (DHPR) Dopamine Dopamine �-hydroxylase Dopamine receptor D3 Dopamine receptor D4 Dopamine transporter Epinephrine G7 protein GTP-cyclohydrolase 1 (CGH1) L-aromatic amino acid decarboxylase Monoamine oxidase: A; B Neurofibromin Norepinephrine Norepinephrine transporter Phenolsulfotransferase Phenylalanine hydroxylase (PKU) RET oncogene SLC6A2 (Norepinephrine tranporter) Tyrosinase Tyrosine hydroxylase Vesicular amin

OMIM Entries

OMIM #612349OMIM #261600OMIM #191290OMIM #605407OMIM #107930OMIM #608643OMIM #609312OMIM #223360OMIM #309850OMIM #309860OMIM #310600OMIM #116790OMIM #621296OMIM #192430OMIM #188400OMIM #300011OMIM #309400OMIM #304150OMIM #600225OMIM #128230OMIM #233910OMIM #612676OMIM #261630OMIM #126090OMIM #264070OMIM #203100OMIM #163970OMIM #604715OMIM #126450OMIM #126451OMIM #190300OMIM #181500OMIM #126452OMIM #193002OMIM #193001OMIM #618049OMIM #100640OMIM #171300OMIM #162200OMIM #193300OMIM #164761OMIM #171400

Related Conditions

Shared genes
Noradrenaline (NA) & Adrenaline (A)
DOPA

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.