AADCD
MCID: ARM002
MIFTS: 56

Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

Categories: 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 53 25 59 37 13 15
Aadc Deficiency 57 12 53 25 59
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 25 29 6 73
Dopa Decarboxylase Deficiency 57 53 25 75
Ddc Deficiency 57 53 25 75
Aromatic-L-Amino-Acid Decarboxylase Deficiency 75 40
Aromatic Amino Acid Decarboxylase Deficiency 53 73
Aromatic L-Amino-Acid Decarboxylase Deficiency 75
Dopa Decarboxylase 13
Aadcd 75

Characteristics:

Orphanet epidemiological data:

59
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
aromatic l-amino acid decarboxylase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aromatic L-Amino Acid Decarboxylase Deficiency

NIH Rare Diseases : 53 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. 

MalaCards based summary : Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to chromophobe renal cell carcinoma and renal oncocytoma, 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 Antiparkinson Agents and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and whole blood, and related phenotypes are ptosis and emotional lability

Disease Ontology : 12 An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has material basis in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12.

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 44)
# Related Disease Score Top Affiliating Genes
1 chromophobe renal cell carcinoma 10.4
2 renal oncocytoma 10.4
3 polycystic kidney disease 10.4
4 prostate cancer 10.2
5 epilepsy 10.2
6 hypoglycemia 10.2
7 fasting hypoglycemia 10.2
8 encephalopathy 10.2
9 major affective disorder 1 10.1
10 tobacco addiction 10.1
11 autism 10.1
12 smoking as a quantitative trait locus 3 10.1
13 major affective disorder 8 10.1
14 major affective disorder 7 10.1
15 major affective disorder 9 10.1
16 gastric cancer 10.1
17 islet cell tumor 10.1
18 adenocarcinoma 10.1
19 diarrhea 10.1
20 synucleinopathy 10.1 COMT DDC MAOB
21 tardive dyskinesia 10.0 COMT CYP2D6
22 dystonia 1, torsion, autosomal dominant 10.0 COMT MAOB
23 neuroblastoma 10.0
24 psychotic disorder 10.0 COMT CYP2D6 MAOB
25 brunner syndrome 10.0 COMT MAOB
26 migraine with or without aura 1 9.9 COMT CYP2D6 MAOB
27 attention deficit-hyperactivity disorder 9.9
28 renal cell carcinoma, nonpapillary 9.9
29 hypertension, essential 9.9
30 thyroid carcinoma, familial medullary 9.9
31 lung cancer 9.9
32 rett syndrome 9.9
33 blood group--swann system 9.9
34 hyperinsulinemic hypoglycemia, familial, 3 9.9
35 hyperinsulinemic hypoglycemia, familial, 5 9.9
36 hyperinsulinemic hypoglycemia, familial, 4 9.9
37 colorectal adenocarcinoma 9.9
38 borderline personality disorder 9.9
39 personality disorder 9.9
40 squamous cell carcinoma 9.9
41 hyperinsulinism 9.9
42 gastric adenocarcinoma 9.9
43 parkinson disease, late-onset 9.8 COMT CYP2D6 DDC MAOB NRTN
44 oculogyric crisis 9.8 BHLHE41 COMT DDC MAOB SLC25A11

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
miosis
oculogyric crises

Neurologic Central Nervous System:
hyperreflexia
myoclonus
choreoathetosis
limb hypertonia
limb dystonia
more
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
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritability

Abdomen Gastrointestinal:
constipation
diarrhea
poor feeding
gastroesophageal reflux disease

Metabolic Features:
temperature instability
paroxysmal sweating
intermittent hypothermia

Head And Neck Nose:
nasal congestion


Clinical features from OMIM:

608643

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 emotional lability 32 HP:0000712
3 hyperhidrosis 32 HP:0000975
4 hyperreflexia 32 HP:0001347
5 constipation 32 HP:0002019
6 sleep disturbance 32 HP:0002360
7 hypotension 32 HP:0002615
8 global developmental delay 32 HP:0001263
9 gastroesophageal reflux 32 HP:0002020
10 feeding difficulties in infancy 32 HP:0008872
11 irritability 32 HP:0000737
12 myoclonus 32 HP:0001336
13 babinski sign 32 HP:0003487
14 abnormality of the face 32 HP:0000271
15 diarrhea 32 HP:0002014
16 choreoathetosis 32 HP:0001266
17 miosis 32 HP:0000616
18 limb hypertonia 32 HP:0002509
19 muscular hypotonia of the trunk 32 HP:0008936
20 limb dystonia 32 HP:0002451
21 temperature instability 32 HP:0005968
22 nasal obstruction 32 HP:0001742
23 decreased csf homovanillic acid 32 HP:0003785
24 intermittent hypothermia 32 HP:0005964

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 Decreased viability GR00240-S-1 10.09 COMT DDC RPL38 SLC25A11
2 Decreased viability GR00381-A-1 10.09 AGXT BHLHE41 CYP2D6 RPL38
3 Decreased viability GR00402-S-2 10.09 ADO AGXT ALDH7A1 BHLHE41 COMT CYP2D6
4 no effect GR00402-S-1 9.6 ADO AGXT ALDH7A1 BHLHE41 COMT CYP2D6

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 AGXT COMT DDC HPD MAOB TYR

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 Antiparkinson Agents Phase 2,Phase 1
2 Dopa Decarboxylase Phase 2,Phase 1
3 Dihydroxyphenylalanine Phase 2,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 Unknown status 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 A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients 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:

41
Heart, Testes, Whole Blood, Lung, Kidney, Prostate, Thyroid

Publications for Aromatic L-Amino Acid Decarboxylase Deficiency

Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:

(show all 48)
# Title Authors Year
1
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. ( 30144970 )
2018
2
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. ( 30260058 )
2018
3
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. ( 28856607 )
2017
4
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. ( 30169182 )
2017
5
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. ( 27147232 )
2017
6
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. ( 28973165 )
2017
7
Gene therapy for children with AADC deficiency. ( 30169175 )
2017
8
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. ( 27216367 )
2016
9
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. ( 27859928 )
2016
10
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. ( 27371992 )
2016
11
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. ( 25956449 )
2015
12
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? ( 24788355 )
2015
13
Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation. ( 25024584 )
2014
14
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. ( 24714172 )
2014
15
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. ( 24513538 )
2014
16
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. ( 25001633 )
2014
17
Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. ( 25944030 )
2014
18
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. ( 23390030 )
2013
19
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. ( 23275025 )
2013
20
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. ( 24037885 )
2013
21
AADC deficiency: occurring in humans, modeled in rodents. ( 24054149 )
2013
22
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. ( 21963339 )
2012
23
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22593174 )
2012
24
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22989964 )
2012
25
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. ( 20505134 )
2010
26
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. ( 20832343 )
2010
27
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. ( 19520530 )
2010
28
Aromatic L-amino acid decarboxylase deficiency in Taiwan. ( 18567514 )
2009
29
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. ( 19172410 )
2009
30
A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. ( 19231266 )
2009
31
Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. ( 18754761 )
2008
32
Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency. ( 16409536 )
2006
33
Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency. ( 17122302 )
2006
34
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. ( 16876014 )
2006
35
Visualisation of impaired dopamine biosynthesis in a case of aromatic L-amino acid decarboxylase deficiency by co-registered 18F-FDOPA PET and magnetic resonance imaging. ( 15821966 )
2005
36
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. ( 14991824 )
2004
37
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. ( 15079002 )
2004
38
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. ( 12891654 )
2003
39
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. ( 12368991 )
2002
40
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. ( 12200739 )
2002
41
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. ( 10896284 )
2000
42
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. ( 10896285 )
2000
43
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. ( 10522874 )
1999
44
Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. ( 9686366 )
1998
45
Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. ( 10728198 )
1997
46
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. ( 9309516 )
1997
47
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. ( 1281049 )
1992
48
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. ( 1357595 )
1992

Variations for Aromatic L-Amino Acid Decarboxylase Deficiency

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

75
# 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

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

6 (show top 50) (show all 87)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDC NM_001082971.1(DDC): c.304G> A (p.Gly102Ser) single nucleotide variant Pathogenic rs137853207 GRCh37 Chromosome 7, 50607624: 50607624
2 DDC NM_001082971.1(DDC): c.304G> A (p.Gly102Ser) single nucleotide variant Pathogenic rs137853207 GRCh38 Chromosome 7, 50539926: 50539926
3 DDC NM_001082971.1(DDC): c.749C> T (p.Ser250Phe) single nucleotide variant Pathogenic rs137853208 GRCh37 Chromosome 7, 50571723: 50571723
4 DDC NM_001082971.1(DDC): c.749C> T (p.Ser250Phe) single nucleotide variant Pathogenic rs137853208 GRCh38 Chromosome 7, 50504025: 50504025
5 DDC NM_001082971.1(DDC): c.925T> C (p.Phe309Leu) single nucleotide variant Pathogenic rs137853209 GRCh37 Chromosome 7, 50563067: 50563067
6 DDC NM_001082971.1(DDC): c.925T> C (p.Phe309Leu) single nucleotide variant Pathogenic rs137853209 GRCh38 Chromosome 7, 50495369: 50495369
7 DDC NM_001082971.1(DDC): c.439A> C (p.Ser147Arg) single nucleotide variant Pathogenic rs137853210 GRCh37 Chromosome 7, 50597037: 50597037
8 DDC NM_001082971.1(DDC): c.439A> C (p.Ser147Arg) single nucleotide variant Pathogenic rs137853210 GRCh38 Chromosome 7, 50529339: 50529339
9 DDC NM_001082971.1(DDC): c.272C> T (p.Ala91Val) single nucleotide variant Pathogenic rs137853211 GRCh37 Chromosome 7, 50607656: 50607656
10 DDC NM_001082971.1(DDC): c.272C> T (p.Ala91Val) single nucleotide variant Pathogenic rs137853211 GRCh38 Chromosome 7, 50539958: 50539958
11 DDC NM_001082971.1(DDC): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs137853212 GRCh37 Chromosome 7, 50566899: 50566899
12 DDC NM_001082971.1(DDC): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs137853212 GRCh38 Chromosome 7, 50499201: 50499201
13 DDC DDC, IVS6DS, A-T, +4 single nucleotide variant Pathogenic
14 DDC NM_000790.3(DDC): c.435+6G> T single nucleotide variant Uncertain significance rs373041067 GRCh37 Chromosome 7, 50605552: 50605552
15 DDC NM_000790.3(DDC): c.435+6G> T single nucleotide variant Uncertain significance rs373041067 GRCh38 Chromosome 7, 50537854: 50537854
16 DDC NM_001082971.1(DDC): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs201951824 GRCh38 Chromosome 7, 50476625: 50476625
17 DDC NM_001082971.1(DDC): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs201951824 GRCh37 Chromosome 7, 50544323: 50544323
18 DDC NM_000790.3(DDC): c.121C> A (p.Leu41Met) single nucleotide variant Uncertain significance rs748932346 GRCh37 Chromosome 7, 50611663: 50611663
19 DDC NM_000790.3(DDC): c.121C> A (p.Leu41Met) single nucleotide variant Uncertain significance rs748932346 GRCh38 Chromosome 7, 50543965: 50543965
20 DDC NM_000790.3(DDC): c.629C> T (p.Pro210Leu) single nucleotide variant Benign/Likely benign rs6262 GRCh37 Chromosome 7, 50595920: 50595920
21 DDC NM_000790.3(DDC): c.629C> T (p.Pro210Leu) single nucleotide variant Benign/Likely benign rs6262 GRCh38 Chromosome 7, 50528222: 50528222
22 DDC NM_000790.3(DDC): c.*155C> T single nucleotide variant Uncertain significance rs886062369 GRCh37 Chromosome 7, 50526405: 50526405
23 DDC NM_000790.3(DDC): c.*155C> T single nucleotide variant Uncertain significance rs886062369 GRCh38 Chromosome 7, 50458707: 50458707
24 DDC NM_000790.3(DDC): c.565G> C (p.Asp189His) single nucleotide variant Uncertain significance rs539762148 GRCh37 Chromosome 7, 50596911: 50596911
25 DDC NM_000790.3(DDC): c.565G> C (p.Asp189His) single nucleotide variant Uncertain significance rs539762148 GRCh38 Chromosome 7, 50529213: 50529213
26 DDC NM_000790.3(DDC): c.412G> A (p.Gly138Arg) single nucleotide variant Uncertain significance rs886062375 GRCh38 Chromosome 7, 50537883: 50537883
27 DDC NM_000790.3(DDC): c.412G> A (p.Gly138Arg) single nucleotide variant Uncertain significance rs886062375 GRCh37 Chromosome 7, 50605581: 50605581
28 DDC NM_000790.3(DDC): c.6C> T (p.Asn2=) single nucleotide variant Uncertain significance rs749246611 GRCh37 Chromosome 7, 50611778: 50611778
29 DDC NM_000790.3(DDC): c.6C> T (p.Asn2=) single nucleotide variant Uncertain significance rs749246611 GRCh38 Chromosome 7, 50544080: 50544080
30 DDC NM_000790.3(DDC): c.*341C> T single nucleotide variant Likely benign rs11575553 GRCh37 Chromosome 7, 50526219: 50526219
31 DDC NM_000790.3(DDC): c.*341C> T single nucleotide variant Likely benign rs11575553 GRCh38 Chromosome 7, 50458521: 50458521
32 DDC NM_000790.3(DDC): c.*314T> C single nucleotide variant Likely benign rs11575552 GRCh37 Chromosome 7, 50526246: 50526246
33 DDC NM_000790.3(DDC): c.*314T> C single nucleotide variant Likely benign rs11575552 GRCh38 Chromosome 7, 50458548: 50458548
34 DDC NM_000790.3(DDC): c.*23C> A single nucleotide variant Uncertain significance rs560640944 GRCh37 Chromosome 7, 50526537: 50526537
35 DDC NM_000790.3(DDC): c.*23C> A single nucleotide variant Uncertain significance rs560640944 GRCh38 Chromosome 7, 50458839: 50458839
36 DDC NM_000790.3(DDC): c.478C> T (p.Arg160Trp) single nucleotide variant Uncertain significance rs886062374 GRCh38 Chromosome 7, 50529300: 50529300
37 DDC NM_000790.3(DDC): c.478C> T (p.Arg160Trp) single nucleotide variant Uncertain significance rs886062374 GRCh37 Chromosome 7, 50596998: 50596998
38 DDC NM_000790.3(DDC): c.265A> G (p.Met89Val) single nucleotide variant Uncertain significance rs886062376 GRCh38 Chromosome 7, 50539965: 50539965
39 DDC NM_000790.3(DDC): c.265A> G (p.Met89Val) single nucleotide variant Uncertain significance rs886062376 GRCh37 Chromosome 7, 50607663: 50607663
40 DDC NM_000790.3(DDC): c.234C> T (p.Ala78=) single nucleotide variant Likely benign rs11575302 GRCh38 Chromosome 7, 50539996: 50539996
41 DDC NM_000790.3(DDC): c.234C> T (p.Ala78=) single nucleotide variant Likely benign rs11575302 GRCh37 Chromosome 7, 50607694: 50607694
42 DDC NM_000790.3(DDC): c.96C> T (p.Asp32=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575290 GRCh38 Chromosome 7, 50543990: 50543990
43 DDC NM_000790.3(DDC): c.96C> T (p.Asp32=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575290 GRCh37 Chromosome 7, 50611688: 50611688
44 DDC NM_000790.3(DDC): c.20G> A (p.Arg7Gln) single nucleotide variant Uncertain significance rs200792455 GRCh37 Chromosome 7, 50611764: 50611764
45 DDC NM_000790.3(DDC): c.20G> A (p.Arg7Gln) single nucleotide variant Uncertain significance rs200792455 GRCh38 Chromosome 7, 50544066: 50544066
46 DDC NM_000790.3(DDC): c.-78C> T single nucleotide variant Uncertain significance rs539605396 GRCh37 Chromosome 7, 50628760: 50628760
47 DDC NM_000790.3(DDC): c.-78C> T single nucleotide variant Uncertain significance rs539605396 GRCh38 Chromosome 7, 50561063: 50561063
48 DDC NM_000790.3(DDC): c.*297T> C single nucleotide variant Likely benign rs11575551 GRCh37 Chromosome 7, 50526263: 50526263
49 DDC NM_000790.3(DDC): c.*297T> C single nucleotide variant Likely benign rs11575551 GRCh38 Chromosome 7, 50458565: 50458565
50 DDC NM_000790.3(DDC): c.*116T> G single nucleotide variant Uncertain significance rs886062370 GRCh37 Chromosome 7, 50526444: 50526444

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:

37
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 ADO AGXT ALDH7A1 COMT CYP2D6 DDC
2
Show member pathways
13.46 ADO AGXT ALDH7A1 DDC HPD QDPR
3
Show member pathways
11.9 ALDH7A1 DDC MAOB
4
Show member pathways
11.67 ALDH7A1 HPD QDPR
5 11.6 CYP2D6 DDC MAOB
6
Show member pathways
11.24 COMT DDC HPD MAOB TYR
7
Show member pathways
11.15 AGXT ALDH7A1 MAOB
8
Show member pathways
10.78 COMT DDC
9
Show member pathways
10.5 COMT MAOB
10 10.07 COMT DDC MAOB TYR

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 9.7 ADO AGXT ALDH7A1 COMT DDC HPD
2 axon GO:0030424 8.92 COMT DDC NRTN SYN1

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

# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.58 DDC MAOB SRSF9
2 mRNA cis splicing, via spliceosome GO:0045292 9.48 SRSF6 SRSF9
3 mRNA splice site selection GO:0006376 9.46 SRSF6 SRSF9
4 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.43 SRSF6 SRSF9
5 L-phenylalanine catabolic process GO:0006559 9.37 HPD QDPR
6 neurotransmitter catabolic process GO:0042135 9.32 COMT MAOB
7 dopamine catabolic process GO:0042420 9.26 COMT MAOB
8 oxidation-reduction process GO:0055114 9.17 ADO ALDH7A1 CYP2D6 HPD MAOB QDPR
9 response to aluminum ion GO:0010044 9.16 MAOB QDPR
10 isoquinoline alkaloid metabolic process GO:0033076 8.96 CYP2D6 DDC

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 AGXT BHLHE41 MAOB QDPR TYMP TYR
2 oxidoreductase activity GO:0016491 9.17 ADO ALDH7A1 CYP2D6 HPD MAOB QDPR
3 amino acid binding GO:0016597 9.16 AGXT DDC

Sources for Aromatic L-Amino Acid Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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