AADCD
MCID: ARM002
MIFTS: 52

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 56 12 52 25 58 36 13 15
Aadc Deficiency 56 12 52 25 58
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 25 29 6 71
Dopa Decarboxylase Deficiency 56 52 25 73
Ddc Deficiency 56 52 25 73
Aromatic-L-Amino-Acid Decarboxylase Deficiency 73 39
Aromatic Amino Acid Decarboxylase Deficiency 52 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:

56
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

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. 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 dopamine beta-hydroxylase deficiency, and has symptoms including myoclonus, constipation 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 Pharmaceutical Solutions and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and testes, and related phenotypes are global developmental delay 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.

NIH Rare Diseases : 52 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 : 56 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)

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 all 42)
# Related Disease Score Top Affiliating Genes
1 oculogyric crisis 30.8 SLC25A11 PP12613 DDC
2 dopamine beta-hydroxylase deficiency 30.4 TH DDC
3 movement disease 30.2 TH OMD MAOB DDC
4 pyridoxamine 5-prime-phosphate oxidase deficiency 29.6 QDPR PNPO PLPBP DDC
5 hypotonia 10.8
6 dystonia 10.8
7 autonomic dysfunction 10.5
8 autosomal recessive disease 10.5
9 ptosis 10.5
10 athetosis 10.5
11 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.4
12 hypoglycemia 10.4
13 neurometabolic disease 10.4
14 cardiac arrhythmia 10.2
15 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
16 diarrhea 10.2
17 epilepsy 10.2
18 sleep disorder 10.2
19 lingual-facial-buccal dyskinesia 10.2
20 fasting hypoglycemia 10.2
21 encephalopathy 10.2
22 hypertonia 10.2
23 myoclonus 10.2
24 tremor 10.2
25 posttransplant acute limbic encephalitis 10.2
26 inherited metabolic disorder 10.1
27 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0 TH DDC
28 neuroblastoma 10.0
29 bap1 tumor predisposition syndrome 10.0
30 hyperphenylalaninemia, bh4-deficient, b 10.0 TH QDPR
31 supratentorial primitive neuroectodermal tumor 10.0 TH DDC
32 postencephalitic parkinson disease 10.0 TH MAOB
33 hyperphenylalaninemia 10.0 TH QDPR
34 tetrahydrobiopterin deficiency 9.9 TH QDPR
35 hyperprolinemia, type ii 9.9 PNPO PLPBP
36 cervical dystonia 9.9 TH OMD
37 pure autonomic failure 9.9 TH MAOB DDC
38 personality disorder 9.8 TH MAOB DDC
39 holocarboxylase synthetase deficiency 9.8 PNPO PLPBP
40 autoimmune polyendocrine syndrome type 1 9.8 TH DDC
41 phenylketonuria 9.7 TH QDPR MAOB
42 early infantile epileptic encephalopathy 9.2 TH PNPO PLPBP

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 global developmental delay 31 HP:0001263
2 sleep disturbance 31 HP:0002360
3 gastroesophageal reflux 31 HP:0002020
4 feeding difficulties in infancy 31 HP:0008872
5 hyperhidrosis 31 HP:0000975
6 irritability 31 HP:0000737
7 myoclonus 31 HP:0001336
8 hyperreflexia 31 HP:0001347
9 ptosis 31 HP:0000508
10 abnormality of the face 31 HP:0000271
11 constipation 31 HP:0002019
12 babinski sign 31 HP:0003487
13 miosis 31 HP:0000616
14 choreoathetosis 31 HP:0001266
15 hypotension 31 HP:0002615
16 emotional lability 31 HP:0000712
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:

56
Neurologic Behavioral Psychiatric Manifestations:
irritability
emotional lability

Head And Neck Eyes:
ptosis
miosis
oculogyric crises

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 Central Nervous System:
myoclonus
hyperreflexia
choreoathetosis
limb dystonia
limb hypertonia
more
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

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


myoclonus, constipation, 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 Pharmaceutical Solutions Phase 2
2 Dopa Decarboxylase Phase 1, Phase 2
3 Antiparkinson Agents Phase 1
4 Dihydroxyphenylalanine 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) 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
Eye, Heart, Testes, 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 105)
# Title Authors PMID Year
1
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. 61 6 56
20505134 2010
2
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. 6 61 56
15079002 2004
3
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. 6 61 56
1357595 1992
4
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. 61 56
30689738 2019
5
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. 56 61
30169182 2017
6
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine. 61 6
23321058 2013
7
Gene therapy for aromatic L-amino acid decarboxylase deficiency. 56 61
22593174 2012
8
Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. 61 56
17240182 2007
9
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. 56 61
12891654 2003
10
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. 61 56
10896285 2000
11
Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. 56 61
9686366 1998
12
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. 56 61
9309516 1997
13
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. 52 61
27371992 2016
14
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. 61 52
27216367 2016
15
Aromatic amino acid decarboxylase deficiency in twins. 56
1700191 1990
16
Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency. 61
31935764 2020
17
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China. 61
32409695 2020
18
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations. 61
32111562 2020
19
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. 61
32369189 2020
20
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
21
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes. 61
31953134 2020
22
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview. 61
31975548 2020
23
Modified Frameless Stereotactic System for Intracerebral Delivery of Viral Vector in Young Children. 61
31214706 2020
24
Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings. 61
31918669 2020
25
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform. 61
31930732 2020
26
[Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency]. 61
31703131 2019
27
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. 61
30614627 2019
28
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies. 61
31104889 2019
29
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. 61
30952622 2019
30
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency. 61
30864153 2019
31
Acceleration of rare disease therapeutic development: a case study of AGIL-AADC. 61
30610920 2019
32
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. 61
30668673 2019
33
[Anesthetic Care of Children With Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency]. 61
30648251 2019
34
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. 61
30144970 2019
35
Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. 61
30766478 2019
36
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. 61
30260058 2018
37
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase. 61
29851841 2018
38
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations. 61
29356298 2018
39
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. 61
28856607 2018
40
Gene therapy for children with AADC deficiency. 61
30169175 2017
41
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. 61
28973165 2017
42
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. 61
29116116 2017
43
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. 61
28823629 2017
44
Gene therapy with modified U1 small nuclear RNA. 61
30063459 2017
45
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. 61
27859928 2017
46
Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children. 61
27940130 2017
47
Gene therapy for Parkinson's disease. 61
30566309 2017
48
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. 61
28100251 2017
49
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients. 61
27147232 2017
50
[Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant]. 61
28100326 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 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 7:50597030-50597030 7:50529332-50529332
2 DDC NM_001082971.2(DDC):c.714+4A>TSNV Pathogenic 864024 7:50595831-50595831 7:50528133-50528133
3 DDC 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 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, +4SNV Pathogenic 29609
10 DDC NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)SNV Pathogenic 202181 rs201951824 7:50544323-50544323 7:50476625-50476625
11 DDC NM_001082971.2(DDC):c.1073G>A (p.Arg358His)SNV Pathogenic/Likely pathogenic 379626 rs771317809 7:50537838-50537838 7:50470140-50470140
12 DDC NM_001082971.2(DDC):c.571-3C>GSNV Likely pathogenic 800953 7:50595981-50595981 7:50528283-50528283
13 DDC NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)SNV Likely pathogenic 802310 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.1042-2A>GSNV Likely pathogenic 581684 rs1276093487 7:50537871-50537871 7:50470173-50470173
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.715A>T (p.Met239Leu)SNV Conflicting interpretations of pathogenicity 791671 7:50571757-50571757 7:50504059-50504059
18 DDC NM_001082971.2(DDC):c.816A>C (p.Ala272=)SNV Conflicting interpretations of pathogenicity 753732 7:50566906-50566906 7:50499208-50499208
19 DDC NM_001082971.2(DDC):c.366C>T (p.Leu122=)SNV Conflicting interpretations of pathogenicity 360439 rs377528325 7:50605627-50605627 7:50537929-50537929
20 DDC NM_001082971.2(DDC):c.-29+4264G>ASNV Uncertain significance 360445 rs886062377 7:50628718-50628718 7:50561021-50561021
21 DDC NM_001082971.2(DDC):c.1190G>A (p.Arg397His)SNV Uncertain significance 360430 rs144293557 7:50534964-50534964 7:50467266-50467266
22 DDC NM_001082971.2(DDC):c.1106A>G (p.Tyr369Cys)SNV Uncertain significance 360431 rs886062371 7:50537805-50537805 7:50470107-50470107
23 DDC NM_001082971.2(DDC):c.*116T>GSNV Uncertain significance 360427 rs886062370 7:50526444-50526444 7:50458746-50458746
24 DDC NM_001082971.2(DDC):c.853C>T (p.Arg285Trp)SNV Uncertain significance 360433 rs886062372 7:50566869-50566869 7:50499171-50499171
25 DDC NM_001082971.2(DDC):c.478C>T (p.Arg160Trp)SNV Uncertain significance 360437 rs886062374 7:50596998-50596998 7:50529300-50529300
26 DDC NM_001082971.2(DDC):c.265A>G (p.Met89Val)SNV Uncertain significance 360440 rs886062376 7:50607663-50607663 7:50539965-50539965
27 DDC NM_001082971.2(DDC):c.20G>A (p.Arg7Gln)SNV Uncertain significance 360443 rs200792455 7:50611764-50611764 7:50544066-50544066
28 DDC NM_001082971.2(DDC):c.-29+4222C>TSNV Uncertain significance 360447 rs539605396 7:50628760-50628760 7:50561063-50561063
29 DDC NM_001082971.2(DDC):c.121C>A (p.Leu41Met)SNV Uncertain significance 235249 rs748932346 7:50611663-50611663 7:50543965-50543965
30 DDC NM_001082971.2(DDC):c.*155C>TSNV Uncertain significance 360426 rs886062369 7:50526405-50526405 7:50458707-50458707
31 DDC NM_001082971.2(DDC):c.565G>C (p.Asp189His)SNV Uncertain significance 360435 rs539762148 7:50596911-50596911 7:50529213-50529213
32 DDC NM_001082971.2(DDC):c.412G>A (p.Gly138Arg)SNV Uncertain significance 360438 rs886062375 7:50605581-50605581 7:50537883-50537883
33 DDC NM_001082971.2(DDC):c.6C>T (p.Asn2=)SNV Uncertain significance 360444 rs749246611 7:50611778-50611778 7:50544080-50544080
34 DDC NM_001082971.2(DDC):c.435+6G>TSNV Uncertain significance 197166 rs373041067 7:50605552-50605552 7:50537854-50537854
35 DDC NM_001082971.2(DDC):c.455C>A (p.Thr152Asn)SNV Uncertain significance 422322 rs571159150 7:50597021-50597021 7:50529323-50529323
36 DDC NM_001082971.2(DDC):c.476C>T (p.Ala159Val)SNV Uncertain significance 800536 7:50597000-50597000 7:50529302-50529302
37 DDC NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)SNV Uncertain significance 568083 rs375716771 7:50563069-50563069 7:50495371-50495371
38 DDC NM_001082971.2(DDC):c.178G>A (p.Val60Ile)SNV Uncertain significance 575126 rs142925706 7:50611606-50611606 7:50543908-50543908
39 DDC NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter)SNV Uncertain significance 632005 rs148472208 7:50530946-50530946 7:50463248-50463248
40 DDC NM_001082971.2(DDC):c.1037A>G (p.Tyr346Cys)SNV Uncertain significance 645612 7:50544326-50544326 7:50476628-50476628
41 DDC NM_001082971.2(DDC):c.*274G>ASNV Uncertain significance 909187 7:50526286-50526286 7:50458588-50458588
42 DDC NM_001082971.2(DDC):c.*113C>TSNV Uncertain significance 909188 7:50526447-50526447 7:50458749-50458749
43 DDC NM_001082971.2(DDC):c.*36G>CSNV Uncertain significance 911181 7:50526524-50526524 7:50458826-50458826
44 DDC NM_001082971.2(DDC):c.1307T>C (p.Val436Ala)SNV Uncertain significance 911182 7:50531065-50531065 7:50463367-50463367
45 DDC NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys)SNV Uncertain significance 911183 7:50534977-50534977 7:50467279-50467279
46 DDC NM_001082971.2(DDC):c.1062C>A (p.Gly354=)SNV Uncertain significance 911184 7:50537849-50537849 7:50470151-50470151
47 DDC NM_001082971.2(DDC):c.1044T>C (p.His348=)SNV Uncertain significance 911383 7:50537867-50537867 7:50470169-50470169
48 DDC NM_001082971.2(DDC):c.822C>T (p.Tyr274=)SNV Uncertain significance 911386 7:50566900-50566900 7:50499202-50499202
49 DDC NM_001082971.2(DDC):c.772G>A (p.Gly258Ser)SNV Uncertain significance 911387 7:50571700-50571700 7:50504002-50504002
50 DDC NM_001082971.2(DDC):c.586G>A (p.Glu196Lys)SNV Uncertain significance 908405 7:50595963-50595963 7:50528265-50528265

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 TH MAOB DDC
2
Show member pathways
11.08 TH DDC
3
Show member pathways
11.01 TH MAOB DDC
4 10.96 TH MAOB
5 10.91 TH DDC
6
Show member pathways
10.87 TH QDPR
7
Show member pathways
10.73 TH MAOB
8
Show member pathways
10.66 TH DDC
9 10.23 TH DDC
10 9.95 TH MAOB DDC

GO Terms for Aromatic L-Amino Acid Decarboxylase Deficiency

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.65 SRSF9 MAOB DDC
2 cellular response to drug GO:0035690 9.58 TH QDPR DDC
3 cellular amino acid metabolic process GO:0006520 9.57 QDPR DDC
4 response to steroid hormone GO:0048545 9.56 TH MAOB
5 mRNA cis splicing, via spliceosome GO:0045292 9.55 SRSF9 SRSF6
6 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.54 SRSF9 SRSF6
7 mRNA splice site selection GO:0006376 9.52 SRSF9 SRSF6
8 response to corticosterone GO:0051412 9.51 TH MAOB
9 multicellular organism aging GO:0010259 9.49 TH DDC
10 dopamine biosynthetic process GO:0042416 9.46 TH DDC
11 cellular response to alkaloid GO:0071312 9.43 TH DDC
12 catecholamine biosynthetic process GO:0042423 9.37 TH DDC
13 response to pyrethroid GO:0046684 9.32 TH DDC
14 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.26 TH DDC
15 response to aluminum ion GO:0010044 9.16 QDPR MAOB
16 isoquinoline alkaloid metabolic process GO:0033076 8.96 TH DDC
17 phytoalexin metabolic process GO:0052314 8.62 TH 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 oxidoreductase activity GO:0016491 9.46 TH QDPR PNPO MAOB
2 amino acid binding GO:0016597 8.96 TH DDC
3 pyridoxal phosphate binding GO:0030170 8.8 PNPO PLPBP DDC

Sources for Aromatic L-Amino Acid Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....