AADCD
MCID: ARM002
MIFTS: 52

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 58 12 54 26 60 38 13 15
Aadc Deficiency 58 12 54 26 60
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 26 30 6 74
Dopa Decarboxylase Deficiency 58 54 26 76
Ddc Deficiency 58 54 26 76
Aromatic-L-Amino-Acid Decarboxylase Deficiency 76 41
Aromatic Amino Acid Decarboxylase Deficiency 54 74
Aromatic L-Amino-Acid Decarboxylase Deficiency 76
Dopa Decarboxylase 13
Aadcd 76

Characteristics:

Orphanet epidemiological data:

60
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 54 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 Dihydroxyphenylalanine and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and prostate, 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 : 26 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 : 58 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 : 76 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 : 77 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 52)
# 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 prostate cancer, hereditary, 8 10.2
6 prostate cancer, hereditary, 6 10.2
7 diarrhea 10.2
8 epilepsy 10.2
9 hypoglycemia 10.2
10 fasting hypoglycemia 10.2
11 pyridoxal 5'-phosphate-dependent epilepsy 10.2
12 encephalopathy 10.2
13 adenocarcinoma 10.2
14 dystonia 1, torsion, autosomal dominant 10.1 COMT MAOB
15 tardive dyskinesia 10.1 COMT CYP2D6
16 major affective disorder 1 10.1
17 thyroid carcinoma, familial medullary 10.1
18 tobacco addiction 10.1
19 autism 10.1
20 smoking as a quantitative trait locus 3 10.1
21 major affective disorder 8 10.1
22 major affective disorder 7 10.1
23 major affective disorder 9 10.1
24 gastric cancer 10.1
25 islet cell tumor 10.1
26 keratoconus 10.1
27 thyroid cancer 10.1
28 brunner syndrome 10.1 COMT MAOB
29 pure autonomic failure 10.0 DDC MAOB
30 psychotic disorder 10.0 COMT CYP2D6 MAOB
31 attention deficit-hyperactivity disorder 9.9
32 renal cell carcinoma, nonpapillary 9.9
33 hypertension, essential 9.9
34 lung cancer 9.9
35 rett syndrome 9.9
36 blood group--swann system 9.9
37 hyperinsulinemic hypoglycemia, familial, 2 9.9
38 hyperinsulinemic hypoglycemia, familial, 3 9.9
39 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
40 hyperinsulinemic hypoglycemia, familial, 5 9.9
41 hyperinsulinemic hypoglycemia, familial, 4 9.9
42 pol iii-related leukodystrophies 9.9
43 small cell carcinoma 9.9
44 colorectal adenocarcinoma 9.9
45 borderline personality disorder 9.9
46 choreatic disease 9.9
47 personality disorder 9.9
48 squamous cell carcinoma 9.9
49 hyperinsulinism 9.9
50 gastric adenocarcinoma 9.9

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:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 emotional lability 33 HP:0000712
3 hyperhidrosis 33 HP:0000975
4 hyperreflexia 33 HP:0001347
5 constipation 33 HP:0002019
6 sleep disturbance 33 HP:0002360
7 hypotension 33 HP:0002615
8 global developmental delay 33 HP:0001263
9 gastroesophageal reflux 33 HP:0002020
10 feeding difficulties in infancy 33 HP:0008872
11 irritability 33 HP:0000737
12 myoclonus 33 HP:0001336
13 babinski sign 33 HP:0003487
14 abnormality of the face 33 HP:0000271
15 diarrhea 33 HP:0002014
16 choreoathetosis 33 HP:0001266
17 miosis 33 HP:0000616
18 muscular hypotonia of the trunk 33 HP:0008936
19 limb hypertonia 33 HP:0002509
20 limb dystonia 33 HP:0002451
21 temperature instability 33 HP:0005968
22 nasal obstruction 33 HP:0001742
23 decreased csf homovanillic acid 33 HP:0003785
24 intermittent hypothermia 33 HP:0005964

Symptoms via clinical synopsis from OMIM:

58
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

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


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

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 Dihydroxyphenylalanine Phase 2,Phase 1
2 Dopa Decarboxylase Phase 2,Phase 1
3 Antiparkinson Agents 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 30 DDC

Anatomical Context for Aromatic L-Amino Acid Decarboxylase Deficiency

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

42
Heart, Testes, Prostate, Thyroid, Whole Blood, Brain, Kidney

Publications for Aromatic L-Amino Acid Decarboxylase Deficiency

Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:

(show top 50) (show all 56)
# Title Authors Year
1
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. ( 30144970 )
2019
2
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency. ( 30864153 )
2019
3
Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. ( 30766478 )
2019
4
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. ( 30689738 )
2019
5
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. ( 30614627 )
2019
6
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. ( 28856607 )
2018
7
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. ( 30260058 )
2018
8
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. ( 27859928 )
2017
9
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. ( 27147232 )
2017
10
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
11
Gene therapy for children with AADC deficiency. ( 30169175 )
2017
12
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. ( 28973165 )
2017
13
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. ( 28100251 )
2017
14
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. ( 27216367 )
2016
15
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. ( 27371992 )
2016
16
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
17
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. ( 25956449 )
2015
18
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. ( 24513538 )
2014
19
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. ( 24714172 )
2014
20
Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation. ( 25024584 )
2014
21
Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. ( 25944030 )
2014
22
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. ( 25001633 )
2014
23
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. ( 24037885 )
2013
24
AADC deficiency: occurring in humans, modeled in rodents. ( 24054149 )
2013
25
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. ( 23390030 )
2013
26
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. ( 23275025 )
2013
27
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine. ( 23321058 )
2013
28
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22989964 )
2012
29
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22593174 )
2012
30
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. ( 21963339 )
2012
31
Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction. ( 22212319 )
2011
32
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. ( 20832343 )
2010
33
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. ( 20505134 )
2010
34
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. ( 19520530 )
2010
35
A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. ( 19231266 )
2009
36
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. ( 19172410 )
2009
37
Aromatic L-amino acid decarboxylase deficiency in Taiwan. ( 18567514 )
2009
38
Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. ( 18754761 )
2008
39
Unusually mild phenotype of AADC deficiency in 2 siblings. ( 17533144 )
2007
40
Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency. ( 17122302 )
2006
41
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. ( 16876014 )
2006
42
Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency. ( 16409536 )
2006
43
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
44
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. ( 15079002 )
2004
45
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. ( 14991824 )
2004
46
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. ( 12891654 )
2003
47
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. ( 12368991 )
2002
48
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. ( 12200739 )
2002
49
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. ( 10896285 )
2000
50
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. ( 10896284 )
2000

Variations for Aromatic L-Amino Acid Decarboxylase Deficiency

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

76
# 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 GRCh38 Chromosome 7, 50544080: 50544080
29 DDC NM_000790.3(DDC): c.6C> T (p.Asn2=) single nucleotide variant Uncertain significance rs749246611 GRCh37 Chromosome 7, 50611778: 50611778
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.853C> T (p.Arg285Trp) single nucleotide variant Uncertain significance rs886062372 GRCh37 Chromosome 7, 50566869: 50566869
39 DDC NM_000790.3(DDC): c.853C> T (p.Arg285Trp) single nucleotide variant Uncertain significance rs886062372 GRCh38 Chromosome 7, 50499171: 50499171
40 DDC NM_000790.3(DDC): c.649A> G (p.Met217Val) single nucleotide variant Likely benign rs6263 GRCh37 Chromosome 7, 50595900: 50595900
41 DDC NM_000790.3(DDC): c.649A> G (p.Met217Val) single nucleotide variant Likely benign rs6263 GRCh38 Chromosome 7, 50528202: 50528202
42 DDC NM_000790.3(DDC): c.535A> C (p.Ile179Leu) single nucleotide variant Uncertain significance rs886062373 GRCh38 Chromosome 7, 50529243: 50529243
43 DDC NM_000790.3(DDC): c.535A> C (p.Ile179Leu) single nucleotide variant Uncertain significance rs886062373 GRCh37 Chromosome 7, 50596941: 50596941
44 DDC NM_000790.3(DDC): c.366C> T (p.Leu122=) single nucleotide variant Uncertain significance rs377528325 GRCh38 Chromosome 7, 50537929: 50537929
45 DDC NM_000790.3(DDC): c.366C> T (p.Leu122=) single nucleotide variant Uncertain significance rs377528325 GRCh37 Chromosome 7, 50605627: 50605627
46 DDC NM_000790.3(DDC): c.-36G> A single nucleotide variant Uncertain significance rs886062377 GRCh38 Chromosome 7, 50561021: 50561021
47 DDC NM_000790.3(DDC): c.-36G> A single nucleotide variant Uncertain significance rs886062377 GRCh37 Chromosome 7, 50628718: 50628718
48 DDC NM_000790.3(DDC): c.1385G> A (p.Arg462Gln) single nucleotide variant Likely benign rs11575542 GRCh37 Chromosome 7, 50530987: 50530987
49 DDC NM_000790.3(DDC): c.1385G> A (p.Arg462Gln) single nucleotide variant Likely benign rs11575542 GRCh38 Chromosome 7, 50463289: 50463289
50 DDC NM_000790.3(DDC): c.1190G> A (p.Arg397His) single nucleotide variant Uncertain significance rs144293557 GRCh37 Chromosome 7, 50534964: 50534964

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:

38
# 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
13.34 ADO AGXT COMT CYP2D6 DDC MAOB
2 11.49 CYP2D6 DDC MAOB
3
Show member pathways
10.66 COMT DDC
4
Show member pathways
10.3 COMT MAOB
5 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 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 9.43 DDC MAOB SRSF9
2 mRNA cis splicing, via spliceosome GO:0045292 9.4 SRSF6 SRSF9
3 mRNA splice site selection GO:0006376 9.37 SRSF6 SRSF9
4 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.32 SRSF6 SRSF9
5 neurotransmitter catabolic process GO:0042135 9.16 COMT MAOB
6 dopamine catabolic process GO:0042420 8.96 COMT MAOB
7 isoquinoline alkaloid metabolic process GO:0033076 8.62 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 9.55 AGXT BHLHE41 MAOB TYMP TYR
2 amino acid binding GO:0016597 8.96 AGXT DDC
3 pyridoxal phosphate binding GO:0030170 8.8 AGXT DDC PLPBP

Sources for Aromatic L-Amino Acid Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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