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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Aromatic amino acid decarboxylase deficiency (C537437)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

857

Name:

Aromatic amino acid decarboxylase deficiency

Definition:

Alternative IDs:

OMIM:608643

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C537437 |C18.452.648.100/C537437

Synonyms:

AADC DEFICIENCY |Aromatic L-amino acid decarboxylase deficiency |DDC DEFICIENCY |Dopa decarboxylase deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537437
MeSH: C537437
OMIM: 608643;

Genes: DDC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000271	Abnormality of the face
4	HP:0003487	Babinski sign
5	HP:0001266	Choreoathetosis
6	HP:0002019	Constipation
7	HP:0003785	Decreased CSF homovanillic acid
8	HP:0002014	Diarrhea
9	HP:0000712	Emotional lability
10	HP:0008872	Feeding difficulties in infancy
11	HP:0002020	Gastroesophageal reflux
12	HP:0001263	Global developmental delay
13	HP:0000975	Hyperhidrosis
14	HP:0001347	Hyperreflexia
15	HP:0002615	Hypotension
16	HP:0005964	Intermittent hypothermia
17	HP:0000737	Irritability
18	HP:0002451	Limb dystonia
19	HP:0002509	Limb hypertonia
20	HP:0000616	Miosis
21	HP:0008936	Muscular hypotonia of the trunk
22	HP:0001336	Myoclonus
23	HP:0001742	Nasal congestion
24	HP:0000508	Ptosis
25	HP:0002360	Sleep disturbance
26	HP:0005968	Temperature instability

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001082971.1(DDC):c.304G>A (p.Gly102Ser)	-1	-	Pathogenic	137853207	RCV000019387;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50607624	50607624	NM_001082971.1:c.304G>A	NP_001076440.1:p.Gly102Ser	NC_000007.13:g.50607624C>T	OMIM Allelic Variant:107930.0001	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.272C>T (p.Ala91Val)	-1	-	Pathogenic	137853211	RCV000019391;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50607656	50607656	NM_001082971.1:c.272C>T	NP_001076440.1:p.Ala91Val	NC_000007.13:g.50607656G>A	OMIM Allelic Variant:107930.0005	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.1040G>A (p.Arg347Gln)	1644	DDC	Pathogenic	201951824	RCV000184027;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50544323	50544323	NM_001082971.1:c.1040G>A	NP_001076440.1:p.Arg347Gln	NC_000007.13:g.50544323C>T	-	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.925T>C (p.Phe309Leu)	1644	DDC	Pathogenic	137853209	RCV000019389;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50563067	50563067	NM_001082971.1:c.925T>C	NP_001076440.1:p.Phe309Leu	NC_000007.13:g.50563067A>G	OMIM Allelic Variant:107930.0003	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.823G>A (p.Ala275Thr)	1644	DDC	Pathogenic	137853212	RCV000019392;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50566899	50566899	NM_001082971.1:c.823G>A	NP_001076440.1:p.Ala275Thr	NC_000007.13:g.50566899C>T	OMIM Allelic Variant:107930.0006	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.749C>T (p.Ser250Phe)	1644	DDC	Pathogenic	137853208	RCV000019388;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50571723	50571723	NM_001082971.1:c.749C>T	NP_001076440.1:p.Ser250Phe	NC_000007.13:g.50571723G>A	OMIM Allelic Variant:107930.0002	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase
NM_001082971.1(DDC):c.439A>C (p.Ser147Arg)	1644	DDC	Pathogenic	137853210	RCV000019390;	N	MedGen:C1291564,OMIM:608643,ORPHA:35708,SNOMED CT:124600004	7	50597037	50597037	NM_001082971.1:c.439A>C	NP_001076440.1:p.Ser147Arg	NC_000007.13:g.50597037T>G	OMIM Allelic Variant:107930.0004	C1291564 608643 Deficiency of aromatic-L-amino-acid decarboxylase