ADSL - adenylosuccinate lyase Gene

Homo sapiens

Also known as ASL; AMPS; ASASE

Gene ID: 158 | Gene type: protein coding

About ADSL

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:40,346,500-40,387,527 (from NCBI)

This gene has 35 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 10.5), testis (RPKM 9.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the lyase 1 family. It is an essential Enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

ADSL Products(7)

mRNA	Protein	Name
NM_000026.4	NP_000017.1	adenylosuccinate lyase isoform a
NM_001123378.3	NP_001116850.1	adenylosuccinate lyase isoform b
NM_001317923.2	NP_001304852.1	adenylosuccinate lyase isoform c
NM_001363840.3	NP_001350769.1	adenylosuccinate lyase isoform d
NM_001410812.1	NP_001397741.1	adenylosuccinate lyase isoform e
NM_001410814.1	NP_001397743.1	adenylosuccinate lyase isoform f
NM_001410816.1	NP_001397745.1	adenylosuccinate lyase isoform g

ADSL Protein Structure

Lyase_1

ADSL_C

0
100
200
300
400
498 a.a.

Protein Preferred Names

Protein Names

adenylosuccinate lyase

adenylosuccinase

Recombinant ADSL Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75565	ADSL/Adenylosuccinate Lyase Protein, Human (His)	P30566-1 (M1-L484)	≥95%

Related Diseases

Diseases

Alias

Adenylosuccinase Deficiency

Adenylosuccinate Lyase Deficiency	Adsl Deficiency
ADSLD	Succinylpurinemic Autism
Deficiency, Adenylosuccinate Lyase

Histidinemia

Histidine Ammonia-Lyase Deficiency	Hal Deficiency
Histidase Deficiency	His Deficiency
Histidinuria	Hyperhistidinemia
HISTID	Histidinuria Renal Tubular Defect

Argininosuccinic Aciduria

Argininosuccinate Lyase Deficiency	Asl Deficiency
Argininosuccinic Acid Lyase Deficiency	Argininosuccinase Deficiency
Argininosuccinic Acidemia	Arginosuccinase Deficiency
Asa Deficiency	Argininosuccinicaciduria
Asauria	Deficiency Of Argininosuccinate Lyase
Asld	Arginino Succinase Deficiency
Argininosuccinate Acidemia	Inborn Error Of Urea Synthesis, Arginino Succinic Type
Urea Cycle Disorder, Arginino Succinase Type	Argininosuccinyl-Coa Lyase Deficiency
Asa	Argininosuccinatelyase Deficiency
ARGINSA	Aciduria Argininosuccinic
Citrullinemia	Argininosuccinic Acidaemia
Metabolic Disorder Of Arginosuccinic Acid

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency	Pnp Deficiency
Nucleoside Phosphorylase Deficiency	Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency
Deficiency Of Inosine Phosphorylase	Pnpase Deficiency
PNPD

Histidine Metabolism Disease

Disturbances Of Histidine Metabolism	Disorder Of Histidine Metabolism
Disturbance Of Histidine Metabolism

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria	Dpys Deficiency
Dph Deficiency	DPYSD
Dihydrouracil Amidohydrolase Deficiency	Dihydropyrimidinuria Due To Dpys Deficiency

Gout

Gouty Arthritis	Articular Gout
Gouty Arthropathy	Arthritis, Gouty
Arthritis Gouty	Idiopathic Gout
Idiopathic Gout, Unspecified Site	Gouty Bursitis
Uratic Arthritis	Gout Nos
Gouty	Gouty Diathesis

Phenylketonuria

Phenylalanine Hydroxylase Deficiency	PKU
Pah Deficiency	Folling Disease
Maternal Phenylketonuria	Phenylketonurias
Oligophrenia Phenylpyruvica	Hyperphenylalaninemia, Non-Pku Mild
Folling'S Disease	Phenylalaninemia
Mild Phenylketonuria	Mild Pku
Variant Pku	Variant Phenylketonuria
Mpku	Deficiency Disease, Phenylalanine Hydroxylase
Phenylketonuria, Maternal	Phenylalanine Hydroxylase Deficiency Disease
Hyperphenylalaninemic Embryopathy	Maternal Pku
Maternal Hyperphenylalaninemia	Phenylketonuric Embryopathy
Hyperphenylalaninemia	HPA
Non-Phenylketonuria Hyperphenylalaninemia	NON-PKU HPA
Phenylketonuria Maternal	Classical Phenylketonuria
Hyperphenylalaninaemia	Pku - [Phenylketonuria]

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

Arts Syndrome

ARTS	Mrxsarts
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision	Mrxs18
Lethal Ataxia With Deafness And Optic Atrophy	Fatal X-Linked Ataxia With Deafness And Loss Of Vision
Mental Retardation, X-Linked, Syndromic, Arts Type	Mental Retardation, X-Linked, Syndromic 18
Syndromic X-Linked Mental Retardation 18	Syndromic X-Linked Mental Retardation Arts Type
Lethal Ataxia-Deafness-Optic Atrophy	X-Linked Fatal Ataxia With Deafness And Loss Of Vision
Ataxia-Deafness-Optic Atrophy, Lethal	Lethal Ataxia With Hearing Loss And Optic Atrophy
Art

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency	Familial Pyrimidinemia
Hereditary Thymine-Uraciluria	Dihydropyrimidinuria
Dpyd Deficiency	Thymine-Uraciluria, Hereditary
Pyrimidinemia, Familial	5-Fluorouracil Toxicity
Dihydrouracil Dehydrogenase Deficiency	Familial Pyrimidinaemia
Thymine-Uracilurea	Familial Pyrimidemia
Pyrimidinemia Familial	DPYDD

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency A	Molybdenum Cofactor Deficiency Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A	Mocod Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
Molybdenum Cofactor Deficiency Complementation Group A	Molybdenum Cofactor Deficiency, Type A
Deficiency, Molybdenum Cofactor, Complementation Group A

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency	2,8-Dihydroxyadenine Urolithiasis
APRTD	2,8-Dihydroxyadeninuria
Dihydroxyadeninuria	Urolithiasis, 2,8-Dihydroxyadenine
Urolithiasis, Dha	Nephrolithiasis, Dha
Dha Crystalline Nephropathy	Nephrolithiasis Dha
Urolithiasis Dha

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism	Disorder Of Gaba Metabolism
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Adenosine Deaminase Deficiency

Ada Deficiency	Ada-Scid
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Scid Due To Ada Deficiency	Severe Combined Immunodeficiency Due To Ada Deficiency
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Ada
Scid Due To Adenosine Deaminase Deficiency

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria	Formiminotransferase Deficiency
FIGLU-URIA	Arakawa Syndrome 1
Formiminoglutamic Acidemia	Formiminotransferase Cyclodeaminase Deficiency
Formiminotransferase Deficiency Syndrome	Ftcd Deficiency
Formiminoglutamicaciduria	Figluria

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

Trombiculiasis

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency	Ornithine Transcarbamylase Deficiency
Otc Deficiency	Ornithine Carbamoyltransferase Deficiency Disease
OTCD	Deficiency Of Citrulline Phosphorylase
Oct Deficiency	Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
Deficiency, Ornithine Carbamoyltransferase

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5	Rosenberg-Chutorian Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 5	Optic Atrophy, Polyneuropathy, And Deafness
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5	Cmt5x
X-Linked Charcot-Marie-Tooth Disease Type 5	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
Optic Atrophy Polyneuropathy Deafness	Optic Atrophy With Polyneuropathy And Deafness
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Urea Cycle Disorder

Urea Cycle Disorders	Urea Cycle Disorders, Inborn
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Disorder Of Urea Cycle Metabolism
Urea Cycle Defect	Ucd
Disorder Of The Urea Cycle Metabolism	Disorder Of Urea Cycle
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Ammonia Metabolic Disorder

Orotic Aciduria

Hereditary Orotic Aciduria	Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
Uridine Monophosphate Synthase Deficiency	Umps Deficiency
Uridine Monophosphate Synthetase Deficiency	Orotic Aciduria I
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency	Oprt And Odc Deficiency
Ump Synthase Deficiency	Orotic Aciduria Ii
Oroticaciduria 1	Orotic Aciduria Hereditary
Orotic Aciduria Type 1	Hereditary Orotic Aciduria Without Megaloblastic Anemia
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency	Ump Synthtase Deficiency
Umps	Orotidylic Decarboxylase Deficiency
Orotic Aciduria 1	ORAC1
Aciduria, Orotic	Hereditary Orotic Aciduria, Type 1
Orotic Aciduria Nos	Orotaciduric Anaemia
Orotic Aciduria Anaemia	Orotic Aciduria Megaloblastic Anaemia

2-Hydroxyglutaric Aciduria

2-Hga	2-Hydroxyglutaric Acidemia
2-Hydroxyglutaricaciduria	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency	BTD DEFICIENCY
Multiple Carboxylase Deficiency, Late-Onset	Multiple Carboxylase Deficiency, Juvenile-Onset
Juvenile-Onset Multiple Carboxylase Deficiency	Biotin Deficiency
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency	Deficiency Of Biotinidase
Biot	Carboxylase Deficiency, Multiple, Late-Onset
Late-Onset Mcd	Mcd Juvenile Form
Biotin Deficiency Disease

Holocarboxylase Synthetase Deficiency

HLCS DEFICIENCY	Early-Onset Multiple Carboxylase Deficiency
Biotin- Ligase Deficiency	Neonatal Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Neonatal Form	Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency - Neonatal Onset	Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Combined Carboxylase Deficiency	Infantile Multiple Carboxylase Deficiency
Biotin-Responsive Mcd	Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Mcd	Mcd Neonatal Form

Alkaptonuria

Homogentisic Acid Oxidase Deficiency	Alcaptonuria
AKU	Deficiency Of Homogentisicase
Homogentisate 1,2-Dioxygenase Deficiency	Alkaptonuric Ochronosis
Homogentisic Acidura	Ochronosis, Hereditary
Hereditary Ochronosis	Ochronosis
Homogentisicaciduria	Deficiency Of Homogentisate Oxygenase

Glutathionuria

Gamma-Glutamyltransferase Deficiency	Ggt Deficiency
Gtg Deficiency	Gamma-Glutamyltranspeptidase Deficiency
Glutathioninuria	Gamma-Glutamyl Transpeptidase Deficiency
Gamma-Glutamyl Transferase Deficiency	Ggt1 Deficiency
GLUTH

Relapsing Fever

Febris Recurrens	Novy Febris Recurrens
Novy Relapsing Fever

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Dystonia 16

DYT16	Dyt-Prkra
Dystonia-16	Young-Onset Dystonia-
Early-Onset Dystonia Parkinsonism	Dystonia, Type 16

Christianson Syndrome

X-Linked Angelman-Like Syndrome	X-Linked Intellectual Disability, South African Type
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome	Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
Mental Retardation, X-Linked Syndromic, Christianson Type	Mrxsch
Angelman-Like Syndrome X-Linked	Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
Intellectual Disability X-Linked Syndromic Christianson Type	Mrxs Christianson
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy	Angelman-Like Syndrome, X-Linked
Intellectual Deficit, X-Linked, South African Type	Mental Retardation X-Linked, South African Type
Mental Retardation, X-Linked, Syndromic, Christianson Type

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria	Mcc Deficiency
Methylcrotonyl-Coa Carboxylase Deficiency	Bmcc Deficiency
3-Mcc Deficiency	3mcc
Mccd	3mcc Deficiency
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Mcc
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency	Deficiency Of Methylcrotonoyl-Coa Carboxylase
3-Methyl Crotonyl-Coa Carboxylase Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Mowat-Wilson Syndrome

MOWS	Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
Hirschsprung Disease-Mental Retardation Syndrome	Mowat-Wilson Syndrome Due To Monosomy 2q22
Hirschsprung Disease Mental Retardation Syndrome	Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
Hirschsprung Disease - Intellectual Disability Syndrome	Hirschsprung Disease Intellectual Disability Syndrome
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease	Mws
Hirschsprung Disease-Intellectual Disability Syndrome	Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)	Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
Mowat-Wilson Syndrome Due To 2q22 Microdeletion	Mowat-Wilson Syndrome Due To Del(2)Q(22)
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ADSL	VGNC	VGNC:69732
Felis catus	ADSL	VGNC	VGNC:59660
Rattus norvegicus	ADSL	RGD	RGD:1307617
Bos taurus	ADSL	VGNC	VGNC:58439
Mus musculus	ADSL	MGD	MGI:103202
Others	ADSL	NCBI