AADCD
MCID: ARM002
MIFTS: 56

Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aromatic L-Amino Acid Decarboxylase Deficiency

MalaCards integrated aliases for Aromatic L-Amino Acid Decarboxylase Deficiency:

Name: Aromatic L-Amino Acid Decarboxylase Deficiency 57 12 20 43 58 36 13 15
Aadc Deficiency 57 12 20 43 58
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 43 29 6 71
Dopa Decarboxylase Deficiency 57 20 43 73
Ddc Deficiency 57 20 43 73
Aromatic-L-Amino-Acid Decarboxylase Deficiency 73 39
Aromatic Amino Acid Decarboxylase Deficiency 20 71
Aromatic L-Amino-Acid Decarboxylase Deficiency 73
Aadcd 73

Characteristics:

Orphanet epidemiological data:

58
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
drug-induced dyskinesias occur in a subset of patients
diurnal fluctuation of symptoms


HPO:

31
aromatic l-amino acid decarboxylase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Aromatic L-Amino Acid Decarboxylase Deficiency

MedlinePlus Genetics : 43 Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.

MalaCards based summary : Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to oculogyric crisis and dystonia, dopa-responsive, due to sepiapterin reductase deficiency, and has symptoms including constipation, myoclonus and diarrhea. An important gene associated with Aromatic L-Amino Acid Decarboxylase Deficiency is DDC (Dopa Decarboxylase), and among its related pathways/superpathways are Tyrosine metabolism and Tryptophan metabolism. The drugs Dopa Decarboxylase and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include whole blood and brain, and related phenotypes are hyperreflexia and sleep disturbance

Disease Ontology : 12 An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.

GARD : 20 Aromatic l-amino acid decarboxylase (AADC) deficiency is a disease that affects the production of signals that allow cells in the nervous system to communicate with each other. These signals are called neurotransmitters. When the neurotransmitters are not being produced correctly, there are problems with the nervous system. Individuals affected by this disease often have trouble coordinating movements, especially of the head, face, and neck. Other symptoms of the condition include problems controlling blood pressure, heart rate, and body temperature. AADC deficiency is caused by mutations in the DDC gene. The disease is inherited in an autosomal recessive manner. Diagnosis of the disease may be established based on a spinal tap and a blood test that show abnormalities in levels of neurotransmitters and enzymes related to the disorder. Genetic testing may be used to confirm the diagnosis. Treatment of the disease may include a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit.

OMIM® : 57 AADC deficiency is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010). (608643) (Updated 05-Mar-2021)

KEGG : 36 Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine.

UniProtKB/Swiss-Prot : 73 Aromatic L-amino-acid decarboxylase deficiency: An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.

Wikipedia : 74 Aromatic L-amino acid decarboxylase (AADC or AAAD), also known as DOPA decarboxylase (DDC), tryptophan... more...

Related Diseases for Aromatic L-Amino Acid Decarboxylase Deficiency

Diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 oculogyric crisis 30.8 SPR PP12613 GCH1 DDC
2 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 30.6 SPR QDPR GCH1
3 dopamine beta-hydroxylase deficiency 30.4 TH PNMT DDC
4 pyridoxamine 5-prime-phosphate oxidase deficiency 30.1 SPR QDPR PNPO PLPBP DDC
5 sleep disorder 30.0 TH SLC18A2 MAOB GCH1 COMT
6 dystonia 29.6 TPH1 TH SPR SLC18A2 QDPR PTS
7 movement disease 29.6 TH SPR SLC18A2 NRTN MAOB GCH1
8 hypotonia 10.9
9 autosomal recessive disease 10.5
10 autonomic dysfunction 10.5
11 ptosis 10.5
12 athetosis 10.5
13 diarrhea 10.4
14 hypoglycemia 10.4
15 neurometabolic disease 10.4
16 hereditary dystonia 10.3 TH GCH1
17 cardiac arrhythmia 10.2
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
19 epilepsy 10.2
20 encephalitis 10.2
21 lingual-facial-buccal dyskinesia 10.2
22 fasting hypoglycemia 10.2
23 encephalopathy 10.2
24 hypertonia 10.2
25 myoclonus 10.2
26 tremor 10.2
27 posttransplant acute limbic encephalitis 10.2
28 postencephalitic parkinson disease 10.2 TH MAOB DDC
29 pure autonomic failure 10.2 TH MAOB DDC
30 segawa syndrome, autosomal recessive 10.2 TH GCH1
31 barbiturate abuse 10.2 SLC18A2 MAOB
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 TPH1 TH DDC
33 classic phenylketonuria 10.2 QDPR PTS
34 autoimmune polyendocrine syndrome 10.2 TPH1 TH DDC
35 mild hyperphenylalaninemia 10.2 QDPR PTS
36 amphetamine abuse 10.2 TH SLC18A2
37 autoimmune polyendocrine syndrome type 1 10.2 TPH1 TH DDC
38 inherited metabolic disorder 10.2
39 hyperprolinemia, type ii 10.2 PNPO PLPBP
40 drug psychosis 10.1 SLC18A2 COMT
41 brunner syndrome 10.1 TPH1 MAOB COMT
42 drug-induced mental disorder 10.1 SLC18A2 COMT
43 pathological gambling 10.1 TPH1 MAOB COMT
44 hemidystonia 10.1 SPR GCH1
45 thiamine metabolism dysfunction syndrome 2 10.1 QDPR GCH1
46 toxic encephalopathy 10.1 TH SLC18A2 MAOB
47 substance-induced psychosis 10.1 SLC18A2 COMT
48 early myoclonic encephalopathy 10.1 TPH1 TH PNPO
49 supratentorial primitive neuroectodermal tumor 10.1 TH DDC
50 multifocal dystonia 10.1 SPR GCH1

Graphical network of the top 20 diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency:



Diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency

Symptoms & Phenotypes for Aromatic L-Amino Acid Decarboxylase Deficiency

Human phenotypes related to Aromatic L-Amino Acid Decarboxylase Deficiency:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 sleep disturbance 31 HP:0002360
3 ptosis 31 HP:0000508
4 emotional lability 31 HP:0000712
5 hyperhidrosis 31 HP:0000975
6 constipation 31 HP:0002019
7 hypotension 31 HP:0002615
8 global developmental delay 31 HP:0001263
9 gastroesophageal reflux 31 HP:0002020
10 feeding difficulties in infancy 31 HP:0008872
11 myoclonus 31 HP:0001336
12 irritability 31 HP:0000737
13 abnormality of the face 31 HP:0000271
14 babinski sign 31 HP:0003487
15 miosis 31 HP:0000616
16 choreoathetosis 31 HP:0001266
17 diarrhea 31 HP:0002014
18 limb dystonia 31 HP:0002451
19 muscular hypotonia of the trunk 31 HP:0008936
20 limb hypertonia 31 HP:0002509
21 temperature instability 31 HP:0005968
22 nasal obstruction 31 HP:0001742
23 decreased csf homovanillic acid 31 HP:0003785
24 intermittent hypothermia 31 HP:0005964

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
myoclonus
choreoathetosis
limb dystonia
limb hypertonia
more
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritability

Cardiovascular Vascular:
hypotension

Laboratory Abnormalities:
decreased csf homovanillic acid (hva)
decreased activity of aromatic l-amino acid decarboxylase (aadc)
decreased csf 5-hydroxyindoleacetic acid (5-hiaa)
decreased plasma catecholamines
decreased whole blood serotonin
more
Head And Neck Eyes:
ptosis
miosis
oculogyric crises

Abdomen Gastrointestinal:
constipation
diarrhea
poor feeding
gastroesophageal reflux disease

Metabolic Features:
temperature instability
intermittent hypothermia
paroxysmal sweating

Head And Neck Nose:
nasal congestion

Clinical features from OMIM®:

608643 (Updated 05-Mar-2021)

UMLS symptoms related to Aromatic L-Amino Acid Decarboxylase Deficiency:


constipation, myoclonus, diarrhea, sleep disturbances, dystonia, limb, nasal congestion (finding)

GenomeRNAi Phenotypes related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 COMT DDC GCH1 PNMT PTS SLC18A2

MGI Mouse Phenotypes related to Aromatic L-Amino Acid Decarboxylase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ABLIM3 COMT DDC GCH1 MAOB NRTN
2 nervous system MP:0003631 9.36 COMT DDC GCH1 MAOB NRTN PNMT

Drugs & Therapeutics for Aromatic L-Amino Acid Decarboxylase Deficiency

Drugs for Aromatic L-Amino Acid Decarboxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dopa Decarboxylase Phase 2
2 Pharmaceutical Solutions Phase 2
3 Dihydroxyphenylalanine Phase 1
4 Antiparkinson Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion (NTUH-AADC-011) Active, not recruiting NCT02926066 Phase 2 AAV2-hAADC
2 A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC Active, not recruiting NCT01395641 Phase 1, Phase 2 gene therapy
3 SIngle-Stage, Open-Label, Safety and Efficacy Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase by Magnetic Resonance MR-guided Infusion Into Midbrain in Pediatric Patients With AADC Deficiency Recruiting NCT02852213 Phase 1 AAV2-hAADC
4 Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Completed NCT02399761

Search NIH Clinical Center for Aromatic L-Amino Acid Decarboxylase Deficiency

Genetic Tests for Aromatic L-Amino Acid Decarboxylase Deficiency

Genetic tests related to Aromatic L-Amino Acid Decarboxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Aromatic-L-Amino-Acid Decarboxylase 29 DDC

Anatomical Context for Aromatic L-Amino Acid Decarboxylase Deficiency

MalaCards organs/tissues related to Aromatic L-Amino Acid Decarboxylase Deficiency:

40
Whole Blood, Brain

Publications for Aromatic L-Amino Acid Decarboxylase Deficiency

Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:

(show top 50) (show all 113)
# Title Authors PMID Year
1
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies. 61 6 57
31104889 2019
2
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. 61 6 57
20505134 2010
3
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. 6 57 61
15079002 2004
4
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. 61 57 6
1357595 1992
5
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. 61 57
30689738 2019
6
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. 57 61
30169182 2017
7
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine. 61 6
23321058 2013
8
Gene therapy for aromatic L-amino acid decarboxylase deficiency. 61 57
22593174 2012
9
Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. 61 57
17240182 2007
10
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. 57 61
12891654 2003
11
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. 61 57
10896285 2000
12
Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. 57 61
9686366 1998
13
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. 57 61
9309516 1997
14
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. 20 61
27371992 2016
15
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. 61 20
27216367 2016
16
Aromatic amino acid decarboxylase deficiency in twins. 57
1700191 1990
17
Current Clinical Applications of In Vivo Gene Therapy with AAVs. 61
33309881 2021
18
Deriving Vignettes for the Rare Disease AADC Deficiency Using Parent, Caregiver and Clinician Interviews to Evaluate the Impact on Health-Related Quality of Life. 61
33447119 2021
19
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus. 61
33478565 2021
20
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity. 61
33152132 2020
21
Use of a novel ball-joint guide array for magnetic resonance imaging-guided cannula placement and convective delivery: technical note. 61
33096525 2020
22
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China. 61
32409695 2020
23
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. 61
32369189 2020
24
Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions. 61
32684374 2020
25
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency. 61
32675002 2020
26
Anesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decarboxylase Deficiency: A Case Report. 61
32845099 2020
27
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform. 61
31930732 2020
28
Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency. 61
31935764 2020
29
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations. 61
32111562 2020
30
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. 61
31849064 2020
31
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes. 61
31953134 2020
32
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview. 61
31975548 2020
33
Modified Frameless Stereotactic System for Intracerebral Delivery of Viral Vector in Young Children. 61
31214706 2020
34
Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings. 61
31918669 2020
35
[Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency]. 61
31703131 2019
36
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. 61
30614627 2019
37
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency. 61
30864153 2019
38
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. 61
30952622 2019
39
Acceleration of rare disease therapeutic development: a case study of AGIL-AADC. 61
30610920 2019
40
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. 61
30668673 2019
41
[Anesthetic Care of Children With Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency]. 61
30648251 2019
42
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. 61
30144970 2019
43
Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. 61
30766478 2019
44
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. 61
30260058 2018
45
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase. 61
29851841 2018
46
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations. 61
29356298 2018
47
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. 61
28856607 2018
48
Gene therapy for children with AADC deficiency. 61
30169175 2017
49
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. 61
28973165 2017
50
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. 61
29116116 2017

Variations for Aromatic L-Amino Acid Decarboxylase Deficiency

ClinVar genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDC NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) SNV Pathogenic 636255 rs971183744 7:50597030-50597030 7:50529332-50529332
2 DDC NM_001082971.2(DDC):c.714+4A>T SNV Pathogenic 864024 7:50595831-50595831 7:50528133-50528133
3 DDC-AS1 NM_001082971.2(DDC):c.304G>A (p.Gly102Ser) SNV Pathogenic 17809 rs137853207 7:50607624-50607624 7:50539926-50539926
4 DDC NM_001082971.2(DDC):c.749C>T (p.Ser250Phe) SNV Pathogenic 17810 rs137853208 7:50571723-50571723 7:50504025-50504025
5 DDC NM_001082971.2(DDC):c.925T>C (p.Phe309Leu) SNV Pathogenic 17811 rs137853209 7:50563067-50563067 7:50495369-50495369
6 DDC NM_001082971.2(DDC):c.439A>C (p.Ser147Arg) SNV Pathogenic 17812 rs137853210 7:50597037-50597037 7:50529339-50529339
7 DDC-AS1 NM_001082971.2(DDC):c.272C>T (p.Ala91Val) SNV Pathogenic 17813 rs137853211 7:50607656-50607656 7:50539958-50539958
8 DDC NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) SNV Pathogenic 17814 rs137853212 7:50566899-50566899 7:50499201-50499201
9 DDC DDC, IVS6DS, A-T, +4 SNV Pathogenic 29609
10 DDC NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly) SNV Pathogenic 977459 7:50534926-50534926 7:50467228-50467228
11 DDC NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) SNV Pathogenic 202181 rs201951824 7:50544323-50544323 7:50476625-50476625
12 DDC NM_001082971.2(DDC):c.571-3C>G SNV Likely pathogenic 800953 rs779659084 7:50595981-50595981 7:50528283-50528283
13 DDC NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) SNV Likely pathogenic 802310 rs1585237892 7:50597036-50597036 7:50529338-50529338
14 DDC NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) SNV Likely pathogenic 559481 rs142110773 7:50531015-50531015 7:50463317-50463317
15 DDC NM_001082971.2(DDC):c.1073G>A (p.Arg358His) SNV Likely pathogenic 379626 rs771317809 7:50537838-50537838 7:50470140-50470140
16 DDC NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe) SNV Likely pathogenic 488382 rs1554411234 7:50531020-50531020 7:50463322-50463322
17 DDC NM_001082971.2(DDC):c.1042-2A>G SNV Likely pathogenic 581684 rs1276093487 7:50537871-50537871 7:50470173-50470173
18 DDC-AS1 NM_001082971.2(DDC):c.286G>A (p.Gly96Arg) SNV Likely pathogenic 973440 7:50607642-50607642 7:50539944-50539944
19 DDC-AS1 NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) SNV Likely pathogenic 973441 7:50607668-50607668 7:50539970-50539970
20 DDC NM_001082971.2(DDC):c.571-2A>G SNV Likely pathogenic 932030 7:50595980-50595980 7:50528282-50528282
21 DDC NM_001082971.2(DDC):c.715A>T (p.Met239Leu) SNV Conflicting interpretations of pathogenicity 791671 rs11575376 7:50571757-50571757 7:50504059-50504059
22 DDC NM_001082971.2(DDC):c.816A>C (p.Ala272=) SNV Uncertain significance 753732 rs767990522 7:50566906-50566906 7:50499208-50499208
23 DDC NM_001082971.2(DDC):c.476C>T (p.Ala159Val) SNV Uncertain significance 800536 rs201828034 7:50597000-50597000 7:50529302-50529302
24 DDC-AS1 NM_001082971.2(DDC):c.435+6G>T SNV Uncertain significance 197166 rs373041067 7:50605552-50605552 7:50537854-50537854
25 DDC NM_001082971.2(DDC):c.-29+4222C>T SNV Uncertain significance 360447 rs539605396 7:50628760-50628760 7:50561063-50561063
26 DDC NM_001082971.2(DDC):c.-29+4264G>A SNV Uncertain significance 360445 rs886062377 7:50628718-50628718 7:50561021-50561021
27 DDC NM_001082971.2(DDC):c.565G>C (p.Asp189His) SNV Uncertain significance 360435 rs539762148 7:50596911-50596911 7:50529213-50529213
28 DDC NM_001082971.2(DDC):c.1190G>A (p.Arg397His) SNV Uncertain significance 360430 rs144293557 7:50534964-50534964 7:50467266-50467266
29 DDC-AS1 NM_001082971.2(DDC):c.265A>G (p.Met89Val) SNV Uncertain significance 360440 rs886062376 7:50607663-50607663 7:50539965-50539965
30 DDC NM_001082971.2(DDC):c.20G>A (p.Arg7Gln) SNV Uncertain significance 360443 rs200792455 7:50611764-50611764 7:50544066-50544066
31 DDC NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter) SNV Uncertain significance 632005 rs148472208 7:50530946-50530946 7:50463248-50463248
32 DDC NM_001082971.2(DDC):c.455C>A (p.Thr152Asn) SNV Uncertain significance 422322 rs571159150 7:50597021-50597021 7:50529323-50529323
33 DDC NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) SNV Uncertain significance 360437 rs886062374 7:50596998-50596998 7:50529300-50529300
34 DDC NM_001082971.2(DDC):c.*116T>G SNV Uncertain significance 360427 rs886062370 7:50526444-50526444 7:50458746-50458746
35 DDC NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) SNV Uncertain significance 360433 rs886062372 7:50566869-50566869 7:50499171-50499171
36 DDC NM_001082971.2(DDC):c.*274G>A SNV Uncertain significance 909187 7:50526286-50526286 7:50458588-50458588
37 DDC NM_001082971.2(DDC):c.*113C>T SNV Uncertain significance 909188 7:50526447-50526447 7:50458749-50458749
38 DDC NM_001082971.2(DDC):c.436-6A>G SNV Uncertain significance 909253 7:50597046-50597046 7:50529348-50529348
39 DDC-AS1 NM_001082971.2(DDC):c.316-5G>C SNV Uncertain significance 909254 7:50605682-50605682 7:50537984-50537984
40 DDC-AS1 NM_001082971.2(DDC):c.316-6C>T SNV Uncertain significance 909255 7:50605683-50605683 7:50537985-50537985
41 DDC-AS1 NM_001082971.2(DDC):c.315+11G>A SNV Uncertain significance 909256 7:50607602-50607602 7:50539904-50539904
42 DDC NM_001082971.2(DDC):c.*36G>C SNV Uncertain significance 911181 7:50526524-50526524 7:50458826-50458826
43 DDC NM_001082971.2(DDC):c.1307T>C (p.Val436Ala) SNV Uncertain significance 911182 7:50531065-50531065 7:50463367-50463367
44 DDC NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys) SNV Uncertain significance 911183 7:50534977-50534977 7:50467279-50467279
45 DDC NM_001082971.2(DDC):c.1062C>A (p.Gly354=) SNV Uncertain significance 911184 7:50537849-50537849 7:50470151-50470151
46 DDC NM_001082971.2(DDC):c.135T>C (p.Ala45=) SNV Uncertain significance 911253 7:50611649-50611649 7:50543951-50543951
47 DDC NM_001082971.2(DDC):c.53C>T (p.Ala18Val) SNV Uncertain significance 911254 7:50611731-50611731 7:50544033-50544033
48 DDC NM_001082971.2(DDC):c.1044T>C (p.His348=) SNV Uncertain significance 911383 7:50537867-50537867 7:50470169-50470169
49 DDC NM_001082971.2(DDC):c.1041+12A>T SNV Uncertain significance 911384 7:50544310-50544310 7:50476612-50476612
50 DDC NM_001082971.2(DDC):c.945-14T>C SNV Uncertain significance 911385 7:50547575-50547575 7:50479877-50479877

UniProtKB/Swiss-Prot genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 DDC p.Gly102Ser VAR_019309 rs137853207
2 DDC p.Pro47His VAR_046137 rs780542462
3 DDC p.Ala91Val VAR_046138 rs137853211
4 DDC p.Ser147Arg VAR_046139 rs137853210
5 DDC p.Ser250Phe VAR_046140 rs137853208
6 DDC p.Ala275Thr VAR_046141 rs137853212
7 DDC p.Phe309Leu VAR_046142 rs137853209
8 DDC p.Arg347Gln VAR_046143 rs201951824
9 DDC p.Leu408Ile VAR_046144

Expression for Aromatic L-Amino Acid Decarboxylase Deficiency

Search GEO for disease gene expression data for Aromatic L-Amino Acid Decarboxylase Deficiency.

Pathways for Aromatic L-Amino Acid Decarboxylase Deficiency

Pathways related to Aromatic L-Amino Acid Decarboxylase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Tryptophan metabolism hsa00380
3 Serotonergic synapse hsa04726
4 Dopaminergic synapse hsa04728

Pathways related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TPH1 TH SPR QDPR PTS PNPO
2
Show member pathways
12.61 TH SLC18A2 MAOB DDC COMT
3 12.43 TPH1 TH DDC COMT
4
Show member pathways
12.05 SPR PTS PNPO GCH1
5
Show member pathways
11.88 TH SLC18A2 MAOB DDC
6 11.84 TPH1 SLC18A2 MAOB DDC
7
Show member pathways
11.76 TH SLC18A2 DDC
8
Show member pathways
11.72 TPH1 MAOB DDC
9 11.69 TPH1 TH PNMT DDC
10
Show member pathways
11.66 TPH1 MAOB DDC
11
Show member pathways
11.62 SPR PTS GCH1
12
Show member pathways
11.62 TH PNMT MAOB DDC COMT
13
Show member pathways
11.27 TPH1 TH PNMT DDC
14 11.15 TH SLC18A2 DDC
15 11.08 TPH1 SLC18A2 DDC
16
Show member pathways
10.92 TH SLC18A2 MAOB COMT
17
Show member pathways
10.82 PNMT COMT
18
Show member pathways
10.78 PNMT MAOB COMT
19
Show member pathways
10.7 TPH1 TH PNMT DDC COMT
20 10.65 TH DDC
21 10.6 TH MAOB DDC COMT
22
Show member pathways
10.56 TPH1 TH SPR QDPR PTS GCH1

GO Terms for Aromatic L-Amino Acid Decarboxylase Deficiency

Cellular components related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.4 TPH1 TH SPR QDPR PTS PNPO

Biological processes related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.03 TPH1 TH SPR QDPR PNPO MAOB
2 response to lipopolysaccharide GO:0032496 9.85 TH MAOB GCH1 COMT
3 cellular response to drug GO:0035690 9.74 TH QDPR DDC
4 cellular amino acid metabolic process GO:0006520 9.67 QDPR PTS DDC
5 response to immobilization stress GO:0035902 9.65 TPH1 TH
6 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.64 SRSF9 SRSF6
7 mRNA splice site selection GO:0006376 9.64 SRSF9 SRSF6
8 alternative mRNA splicing, via spliceosome GO:0000380 9.63 SRSF9 SRSF6
9 response to corticosterone GO:0051412 9.63 TH MAOB
10 response to pain GO:0048265 9.62 GCH1 COMT
11 multicellular organism aging GO:0010259 9.62 TH DDC
12 response to toxic substance GO:0009636 9.62 SRSF9 SLC18A2 MAOB DDC
13 nitric oxide biosynthetic process GO:0006809 9.61 SPR GCH1
14 catecholamine metabolic process GO:0006584 9.61 DDC COMT
15 neurotransmitter catabolic process GO:0042135 9.6 MAOB COMT
16 cellular response to alkaloid GO:0071312 9.59 TH DDC
17 dopamine catabolic process GO:0042420 9.58 MAOB COMT
18 aromatic amino acid family metabolic process GO:0009072 9.58 TPH1 TH
19 indolalkylamine biosynthetic process GO:0046219 9.54 TPH1 DDC
20 response to pyrethroid GO:0046684 9.52 TH DDC
21 response to aluminum ion GO:0010044 9.51 QDPR MAOB
22 serotonin biosynthetic process GO:0042427 9.48 TPH1 DDC
23 isoquinoline alkaloid metabolic process GO:0033076 9.46 TH DDC
24 phytoalexin metabolic process GO:0052314 9.43 TH DDC
25 dopamine biosynthetic process GO:0042416 9.43 TH GCH1 DDC
26 dihydrobiopterin metabolic process GO:0051066 9.4 QDPR GCH1
27 epinephrine biosynthetic process GO:0042418 9.37 TH PNMT
28 catecholamine biosynthetic process GO:0042423 9.33 TH PNMT DDC
29 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.13 TH SLC18A2 DDC
30 tetrahydrobiopterin biosynthetic process GO:0006729 8.92 SPR QDPR PTS GCH1

Molecular functions related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 TPH1 TH SPR QDPR PNPO MAOB
2 pyridoxal phosphate binding GO:0030170 9.33 PNPO PLPBP DDC
3 amino acid binding GO:0016597 9.26 TH DDC
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.62 TPH1 TH

Sources for Aromatic L-Amino Acid Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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