MCID: PHN003
MIFTS: 73

Phenylketonuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Phenylketonuria

MalaCards integrated aliases for Phenylketonuria:

Name: Phenylketonuria 53 37 12 72 72 49 24 55 71 36 28 13 40 14
Phenylalanine Hydroxylase Deficiency 53 72 23 49 24 55
Pku 53 12 49 24 55 71
Pah Deficiency 53 23 24 55
Folling Disease 53 49 24
Oligophrenia Phenylpyruvica 53 49
Phenylketonuria, Maternal 41 69
Maternal Phenylketonuria 12 55
Phenylalaninemia 12 72
Phenylketonurias 41 69
Deficiency Disease, Phenylalanine Hydroxylase 24
Phenylalanine Hydroxylase Deficiency Disease 24
Non-Phenylketonuria Hyperphenylalaninemia 71
Hyperphenylalaninemia, Non-Pku Mild 53
Hyperphenylalaninemic Embryopathy 55
Maternal Hyperphenylalaninemia 55
Phenylketonuric Embryopathy 55
Phenylalanine Hydroxylase 13
Classical Phenylketonuria 69
Phenylketonuria Maternal 51
Hyperphenylalaninaemia 69
Hyperphenylalaninemia 71
Følling's Disease 12
Folling's Disease 24
Maternal Pku 55
Non-Pku Hpa 71
Hpa 71

Characteristics:

Orphanet epidemiological data:

55
phenylketonuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-5/10000 (Ireland),1-9/1000000 (Finland),1-5/10000 (Turkey); Age of onset: Infancy; Age of death: normal life expectancy;
maternal phenylketonuria
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
occurs in about 1 in 10,000 births
mousy odor


HPO:

31
phenylketonuria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Phenylketonuria

NIH Rare Diseases : 49 Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. If PKU is not treated, phenylalanine can build up to harmful levels in the body. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Without treatment, these children develop permanent intellectual disability. Light skin and hair, seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. Babies born to mothers with PKU and women who no longer follow a low-phenylalanine diet have a risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. PKU is caused by changes (mutations ) in the PAH gene. It is inherited in an autosomal recessive manner. Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder. The best treatment for PKU is a diet of low-protein foods. Last updated: 12/28/2015

MalaCards based summary : Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and hyperphenylalaninemia, bh4-deficient, b, and has symptoms including aminoaciduria, intellectual disability, severe and seizures. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Phenylalanine, tyrosine and tryptophan biosynthesis and Folate biosynthesis. The drugs Verapamil and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and testes, and related phenotypes are homeostasis/metabolism and integument

Disease Ontology : 12 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Genetics Home Reference : 24 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

OMIM : 53 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (Zurfluh et al., 2008). See Scriver (2007) and Blau et al. (2010) for detailed reviews of PKU. (261600)

MedlinePlus : 40 Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life. NIH: National Institute of Child Health and Human Development

UniProtKB/Swiss-Prot : 71 Hyperphenylalaninemia: Mildest form of phenylalanine hydroxylase deficiency. Non-phenylketonuria hyperphenylalaninemia: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Phenylketonuria: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.

GeneReviews: NBK1504

Related Diseases for Phenylketonuria

Diseases related to Phenylketonuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 classic phenylketonuria 33.8 PAH PTS QDPR
2 hyperphenylalaninemia, bh4-deficient, b 32.2 GCH1 PTS QDPR TH
3 mild hyperphenylalaninemia 30.4 PAH PTS QDPR
4 keratomalacia 29.8 PAH QDPR TTR
5 maple syrup urine disease 29.6 BTD OTC QDPR SLC7A5
6 tetrahydrobiopterin deficiency 29.6 GCH1 PAH PTS QDPR TH
7 acyl-coa dehydrogenase, medium-chain, deficiency of 29.0 ACADM BTD HADHA
8 hyperphenylalaninemia 28.8 BGLAP G6PD GCH1 PAH PTS QDPR
9 mild phenylketonuria 12.4
10 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 11.9
11 hpa i recognition polymorphism, beta-globin-related 11.9
12 maternal hyperphenylalaninemia 11.8
13 hyperphenylalaninemia, bh4-deficient, c 11.5
14 microcephaly 11.2
15 spasticity 11.2
16 hyperphenylalaninemia, bh4-deficient, a 11.0
17 amino acid metabolic disorder 10.9
18 segawa syndrome, autosomal recessive 10.4 GCH1 TH
19 hereditary dystonia 10.4 GCH1 TH
20 meningococcal infection 10.3 G6PD TTR
21 cranio-facial dystonia 10.3 GCH1 PTS
22 lymphedema, hereditary, ii 10.3 GCH1 PTS
23 dystonia 1, torsion, autosomal dominant 10.3 GCH1 TH
24 pure autonomic failure 10.2 TH TTR
25 hypothyroidism 10.1
26 tyrosinemia 10.1 BTD PAH PTS
27 congenital hypothyroidism 10.1
28 cerebritis 10.1
29 aging 10.1
30 galactosemia 10.0
31 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 ACADM HADHA
32 multiple carboxylase deficiency 10.0 BTD OTC
33 autoimmune polyendocrine syndrome type 1 10.0 TH TPH1
34 dystonia, dopa-responsive 9.9 GCH1 TH
35 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.9 TH TPH1
36 organic acidemia 9.9 ACADM BTD
37 vitamin b12 deficiency 9.9
38 autism 9.8
39 body mass index quantitative trait locus 11 9.8
40 body mass index quantitative trait locus 9 9.8
41 body mass index quantitative trait locus 8 9.8
42 body mass index quantitative trait locus 4 9.8
43 body mass index quantitative trait locus 10 9.8
44 anxiety 9.8
45 body mass index quantitative trait locus 7 9.8
46 body mass index quantitative trait locus 12 9.8
47 body mass index quantitative trait locus 14 9.8
48 body mass index quantitative trait locus 18 9.8
49 dementia 9.8
50 homocystinuria 9.8

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to Phenylketonuria

Symptoms & Phenotypes for Phenylketonuria

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
dry skin
eczema
scleroderma
pale pigmentation

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
blond hair

Neurologic Central Nervous System:
decreased mental processing speed
mental retardation (if left untreated)
infantile irritability (if left untreated)
peculiar gait (if left untreated)
peculiar stance and sitting posture (if left untreated)
more
Prenatal Manifestations Maternal:
maternal hyperphenylalaninemia teratogenic

Neurologic Behavioral Psychiatric Manifestations:
depression
obsessive-compulsive disorder
psychosis (if left untreated)
hyperactivity (if left untreated)
autistic features (if left untreated)
more
Metabolic Features:
hyperphenylalaninemia
phenylalanine hydroxylase deficiency
phenylpyruvic acidemia

Head And Neck Eyes:
blue eyes
cataracts

Neurologic Peripheral Nervous System:
defective myelin formation (if left untreated)

Laboratory Abnormalities:
increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine


Clinical features from OMIM:

261600

Human phenotypes related to Phenylketonuria:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003355
2 intellectual disability, severe 55 31 frequent (33%) Frequent (79-30%) HP:0010864
3 seizures 31 HP:0001250
4 dry skin 31 HP:0000958
5 intellectual disability 31 HP:0001249
6 hyperreflexia 31 HP:0001347
7 cerebral calcification 31 HP:0002514
8 cataract 31 HP:0000518
9 microcephaly 31 HP:0000252
10 irritability 31 HP:0000737
11 malformation of the heart and great vessels 55 Occasional (29-5%)
12 attention deficit hyperactivity disorder 31 HP:0007018
13 anxiety 31 HP:0000739
14 psychosis 31 HP:0000709
15 blue irides 31 HP:0000635
16 obsessive-compulsive behavior 31 HP:0000722
17 generalized hypopigmentation 31 HP:0007513
18 aggressive behavior 31 HP:0000718
19 eczema 31 HP:0000964
20 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
21 scleroderma 31 HP:0100324
22 self-mutilation 31 HP:0000742
23 fair hair 31 HP:0002286
24 hyperphenylalaninemia 31 HP:0004923
25 phenylpyruvic acidemia 31 HP:0004920
26 depressivity 31 HP:0000716
27 reduced phenylalanine hydroxylase activity 31 HP:0005982
28 maternal hyperphenylalaninemia 31 HP:0100610

UMLS symptoms related to Phenylketonuria:


dry skin, morning sickness, sleeplessness, vertigo/dizziness, chronic pain, tremor, syncope, seizures, sciatica, pain, headache, back pain

MGI Mouse Phenotypes related to Phenylketonuria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 OTC PAH PTS QDPR SLC7A5 TH
2 integument MP:0010771 9.5 BTD NIPSNAP1 OTC PAH PTS TH
3 pigmentation MP:0001186 8.92 BTD OTC PAH PTS

Drugs & Therapeutics for Phenylketonuria

Drugs for Phenylketonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1 52-53-9 2520
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
5 tannic acid Approved, Nutraceutical Phase 4
6 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1
7 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1
8 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
9 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 4
11 Pharmaceutical Solutions Phase 4
12 Antioxidants Phase 4
13 Protective Agents Phase 4
14 Central Nervous System Depressants Phase 4
15 Dopamine Agents Phase 4
16
Serotonin Phase 4 50-67-9 5202
17 Serotonin Agents Phase 4
18 phenylalanine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Dextrans Phase 3
20
Nitric Oxide Approved Phase 2 10102-43-9 145068
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
22
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
23 Micronutrients Phase 2
24 Trace Elements Phase 2
25 Vitamins Phase 2
26 Hematinics Phase 2
27 Vitamin B Complex Phase 2
28 Liver Extracts Phase 1, Phase 2
29 Folate Nutraceutical Phase 2
30 Vitamin B9 Nutraceutical Phase 2
31
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
32
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
33
Moxifloxacin Approved, Investigational Phase 1 151096-09-2, 354812-41-2 152946
34
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
35 Anti-Bacterial Agents Phase 1
36 Anti-Infective Agents Phase 1
37 Contraceptive Agents Phase 1
38 Contraceptives, Oral Phase 1
39 Contraceptives, Oral, Combined Phase 1
40 Estradiol 17 beta-cypionate Phase 1
41 Estradiol 3-benzoate Phase 1
42 Estradiol valerate Phase 1 979-32-8
43 Fluoroquinolones Phase 1
44 Norgestimate, ethinyl estradiol drug combination Phase 1
45 Nucleic Acid Synthesis Inhibitors Phase 1
46 Polyestradiol phosphate Phase 1
47 Topoisomerase Inhibitors Phase 1
48
Coal tar Approved 8007-45-2
49
Menthol Approved 2216-51-5 16666
50 Hormone Antagonists

Interventional clinical trials:

(show top 50) (show all 79)

# Name Status NCT ID Phase Drugs
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
2 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
3 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
4 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
5 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
6 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
7 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
8 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
9 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels Completed NCT00104247 Phase 3 sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
10 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
11 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
12 A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels Completed NCT00225615 Phase 3 sapropterin dihydrochloride
13 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3 BMN 165
14 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3 sapropterin dihydrochloride
15 Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU Active, not recruiting NCT01889862 Phase 3 BMN165 20mg/day;BMN165 40mg/day;Placebo
16 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
17 The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU Withdrawn NCT01650909 Phase 3
18 Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Completed NCT00104260 Phase 2 sapropterin dihydrochloride
19 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) Completed NCT01212744 Phase 2 rAvPAL-PEG
20 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
21 Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU Completed NCT00925054 Phase 2 rAvPAL-PEG
22 Study of BH4, a New and Simple Treatment of Mild PKU Completed NCT00260000 Phase 2 5,6,7,8-tetrahydrobiopterin
23 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
24 Neurovascular Transduction During Exercise in Chronic Kidney Disease Recruiting NCT02947750 Phase 2 6R-BH4
25 Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) Active, not recruiting NCT00924703 Phase 2 rAvPAL-PEG
26 Liver Cell Transplant for Phenylketonuria Suspended NCT01465100 Phase 1, Phase 2 Immunosuppression
27 Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria Terminated NCT01977820 Phase 2 Sapropterin;Placebo
28 Phenylketonuria, Oxidative Stress, and BH4 Terminated NCT01395394 Phase 2 Kuvan
29 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
30 Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria Completed NCT00634660 Phase 1 rAvPAL-PEG
31 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
32 Sapropterin in Individuals With Phenylketonuria Unknown status NCT00730080 Sapropterin (Kuvan)
33 Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response Unknown status NCT00841100 Kuvan
34 Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders Unknown status NCT01274026 sapropterin dihydrochloride
35 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
36 Observational Study of Endothelial Dysfunction in Phenylketonuria Completed NCT02176603
37 Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis Completed NCT02440932
38 Protein Requirements in Children With Phenylketonuria (PKU) Completed NCT01965691
39 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study Completed NCT01917344
40 Simplified Diet Approach in Phenylketonuria Completed NCT02555579
41 The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria Completed NCT02297347
42 Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria Completed NCT00909012
43 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
44 Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy Completed NCT00986973 Sapropterin
45 Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors Completed NCT00728676
46 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria Completed NCT01659749
47 The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) Completed NCT00964236 Sapropterin
48 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299
49 Simple Breath Test to Examine Phenylalanine Metabolism Completed NCT02009904 Early Phase 1
50 The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU) Completed NCT00892554

Search NIH Clinical Center for Phenylketonuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Phenylketonuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Phenylketonuria:
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Phenylketonuria:
Hepatocytes PMIDs: 15239608 12777539 9580649 22789058 22167636

Cochrane evidence based reviews: phenylketonurias

Genetic Tests for Phenylketonuria

Genetic tests related to Phenylketonuria:

# Genetic test Affiliating Genes
1 Phenylketonuria 28 PAH

Anatomical Context for Phenylketonuria

MalaCards organs/tissues related to Phenylketonuria:

38
Brain, Testes, Skin, Bone, Liver, Heart, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Phenylketonuria

Articles related to Phenylketonuria:

(show top 50) (show all 1006)
# Title Authors Year
1
Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice. ( 29175141 )
2018
2
Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria. ( 29326880 )
2018
3
Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016. ( 29436795 )
2018
4
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria. ( 29353259 )
2018
5
50 Years Ago in The Journal of Pediatrics: Phenylketonuria: Evaluation of Therapy and Verification of Diagnosis. ( 29389455 )
2018
6
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem. ( 29278642 )
2018
7
Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria. ( 29432026 )
2018
8
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755 )
2018
9
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. ( 29316886 )
2018
10
Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic. ( 29451781 )
2018
11
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. ( 29390883 )
2018
12
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. ( 28915855 )
2017
13
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. ( 28982351 )
2017
14
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. ( 28334709 )
2017
15
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids. ( 28766559 )
2017
16
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. ( 28318283 )
2017
17
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
18
Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria. ( 28664173 )
2017
19
Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). ( 28382600 )
2017
20
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran. ( 29184640 )
2017
21
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria. ( 28820737 )
2017
22
Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source. ( 28402322 )
2017
23
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria. ( 28679641 )
2017
24
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria. ( 28850618 )
2017
25
A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree. ( 28706611 )
2017
26
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
27
Arterial stiffness assessment in patients with phenylketonuria. ( 29390507 )
2017
28
Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review. ( 28472877 )
2017
29
Reduced bone mineral density in Chinese children with phenylketonuria. ( 28489557 )
2017
30
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. ( 28285739 )
2017
31
Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation. ( 28318688 )
2017
32
Issues with European guidelines for phenylketonuria. ( 28842158 )
2017
33
AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria. ( 29230603 )
2017
34
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria. ( 29030855 )
2017
35
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation. ( 28491816 )
2017
36
Cognitive Outcomes in Early-Treated Adults With Phenylketonuria (PKU): A Comprehensive Picture Across Domains. ( 28080075 )
2017
37
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU. ( 28520731 )
2017
38
Fifteen years of using a second stage protein substitute for weaning in phenylketonuria: a retrospective study. ( 28940742 )
2017
39
[Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province]. ( 28604955 )
2017
40
Serum ischemia modified albumin is a possible new marker of oxidative stress in phenylketonuria. ( 29270710 )
2017
41
50 Years Ago in The Journal of Pediatrics: Conference on Treatment of Phenylketonuria. ( 28010791 )
2017
42
Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria. ( 28848183 )
2017
43
Phenylketonuria Dietary Management and an Emerging Development. ( 28754201 )
2017
44
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. ( 28776207 )
2017
45
Issues with European guidelines for phenylketonuria - Authors' reply. ( 28842159 )
2017
46
Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study. ( 28824701 )
2017
47
Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire. ( 28274259 )
2017
48
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria. ( 28850634 )
2017
49
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria. ( 28282402 )
2017
50
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria. ( 28053173 )
2017

Variations for Phenylketonuria

UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

71 (show top 50) (show all 206)
# Symbol AA change Variation ID SNP ID
1 PAH p.Ser16Pro VAR_000869 rs62642946
2 PAH p.Phe39Leu VAR_000870 rs62642926
3 PAH p.Ser40Leu VAR_000872 rs62642938
4 PAH p.Leu41Phe VAR_000873 rs62642928
5 PAH p.Lys42Ile VAR_000874 rs62635346
6 PAH p.Gly46Ser VAR_000875 rs74603784
7 PAH p.Ala47Val VAR_000876 rs118203925
8 PAH p.Leu48Ser VAR_000877 rs5030841
9 PAH p.Arg53His VAR_000878 rs118092776
10 PAH p.Phe55Leu VAR_000879 rs199475598
11 PAH p.Glu56Asp VAR_000880 rs199475567
12 PAH p.Ile65Asn VAR_000882 rs75193786
13 PAH p.Ile65Thr VAR_000883 rs75193786
14 PAH p.Ser67Pro VAR_000884 rs5030842
15 PAH p.Arg68Ser VAR_000885 rs76394784
16 PAH p.Glu76Ala VAR_000886 rs62507347
17 PAH p.Asp84Tyr VAR_000887 rs62514902
18 PAH p.Ser87Arg VAR_000888 rs62516151
19 PAH p.Thr92Ile VAR_000889 rs62514903
20 PAH p.Leu98Ser VAR_000891 rs62517167
21 PAH p.Ala104Asp VAR_000892 rs62642929
22 PAH p.Thr124Ile VAR_000893 rs199475571
23 PAH p.Asp129Tyr VAR_000894 rs199475606
24 PAH p.Asp143Gly VAR_000895 rs199475572
25 PAH p.His146Tyr VAR_000896 rs199475599
26 PAH p.Gly148Ser VAR_000897 rs80297647
27 PAH p.Asp151His VAR_000898 rs199475597
28 PAH p.Tyr154Asn VAR_000899 rs199475587
29 PAH p.Arg157Asn VAR_000900
30 PAH p.Arg158Gln VAR_000901 rs5030843
31 PAH p.Arg158Trp VAR_000902 rs75166491
32 PAH p.Gln160Pro VAR_000903 rs199475601
33 PAH p.Phe161Ser VAR_000904 rs79635844
34 PAH p.Ile164Thr VAR_000905 rs199475595
35 PAH p.Asn167Ile VAR_000906 rs77554925
36 PAH p.His170Arg VAR_000907 rs199475573
37 PAH p.Gly171Ala VAR_000908 rs199475596
38 PAH p.Gly171Arg VAR_000909 rs199475613
39 PAH p.Pro173Thr VAR_000910 rs199475574
40 PAH p.Ile174Thr VAR_000911 rs138809906
41 PAH p.Pro175Ala VAR_000912 rs199475604
42 PAH p.Arg176Leu VAR_000913 rs74486803
43 PAH p.Arg176Pro VAR_000914 rs74486803
44 PAH p.Val177Leu VAR_000915 rs199475602
45 PAH p.Glu178Gly VAR_000916 rs77958223
46 PAH p.Val190Ala VAR_000917 rs62514919
47 PAH p.Leu194Pro VAR_000918 rs5030844
48 PAH p.His201Arg VAR_000922 rs62517180
49 PAH p.His201Tyr VAR_000923 rs62517205
50 PAH p.Tyr204Cys VAR_000924 rs62514927

ClinVar genetic disease variations for Phenylketonuria:

6 (show top 50) (show all 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAH NM_000277.2(PAH): c.1042C> G (p.Leu348Val) single nucleotide variant Pathogenic rs62516092 GRCh37 Chromosome 12, 103238137: 103238137
2 PAH NM_000277.2(PAH): c.1068C> A (p.Tyr356Ter) single nucleotide variant Pathogenic rs62516095 GRCh37 Chromosome 12, 103237555: 103237555
3 PAH NM_000277.2(PAH): c.1200-1G> A single nucleotide variant Pathogenic rs62507322 GRCh37 Chromosome 12, 103234294: 103234294
4 PAH NM_000277.2(PAH): c.1208C> T (p.Ala403Val) single nucleotide variant Pathogenic rs5030857 GRCh37 Chromosome 12, 103234285: 103234285
5 PAH NM_000277.2(PAH): c.165T> G (p.Phe55Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199475598 GRCh37 Chromosome 12, 103306572: 103306572
6 PAH NM_000277.2(PAH): c.204A> T (p.Arg68Ser) single nucleotide variant Pathogenic/Likely pathogenic rs76394784 GRCh37 Chromosome 12, 103288661: 103288661
7 PAH NM_000277.2(PAH): c.441+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs62507321 GRCh37 Chromosome 12, 103271235: 103271235
8 PAH NM_000277.2(PAH): c.508C> G (p.His170Asp) single nucleotide variant Pathogenic rs199475655 GRCh37 Chromosome 12, 103260375: 103260375
9 PAH NM_000277.2(PAH): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs77958223 GRCh37 Chromosome 12, 103249087: 103249087
10 PAH NM_000277.2(PAH): c.638T> C (p.Leu213Pro) single nucleotide variant Pathogenic/Likely pathogenic rs62516109 GRCh37 Chromosome 12, 103248982: 103248982
11 PAH NM_000277.2(PAH): c.890G> A (p.Arg297His) single nucleotide variant Pathogenic rs62642939 GRCh37 Chromosome 12, 103245487: 103245487
12 PAH NM_000277.2(PAH): c.898G> T (p.Ala300Ser) single nucleotide variant Pathogenic rs5030853 GRCh37 Chromosome 12, 103245479: 103245479
13 PAH NM_000277.2(PAH): c.912+1G> A single nucleotide variant Pathogenic rs62514956 GRCh37 Chromosome 12, 103245464: 103245464
14 PAH NM_000277.2(PAH): c.926C> T (p.Ala309Val) single nucleotide variant Pathogenic/Likely pathogenic rs62642935 GRCh37 Chromosome 12, 103240716: 103240716
15 PAH NM_000277.2(PAH): c.955G> T (p.Glu319Ter) single nucleotide variant Pathogenic rs398123294 GRCh37 Chromosome 12, 103240687: 103240687
16 PAH NM_000277.2(PAH): c.974A> G (p.Tyr325Cys) single nucleotide variant Pathogenic rs62508578 GRCh37 Chromosome 12, 103238205: 103238205
17 PAH NM_000277.2(PAH): c.1024delG (p.Ala342Hisfs) deletion Pathogenic rs63581460 GRCh37 Chromosome 12, 103238155: 103238155
18 PAH NM_000277.2(PAH): c.1055delG (p.Gly352Valfs) deletion Pathogenic rs62516094 GRCh37 Chromosome 12, 103238124: 103238124
19 PAH NM_000277.2(PAH): c.1065+1G> A single nucleotide variant Pathogenic rs62516147 GRCh37 Chromosome 12, 103238113: 103238113
20 PAH NM_000277.2(PAH): c.1089delG (p.Lys363Asnfs) deletion Pathogenic/Likely pathogenic rs5030654 GRCh37 Chromosome 12, 103237534: 103237534
21 PAH NM_000277.2(PAH): c.1114A> T (p.Thr372Ser) single nucleotide variant Likely pathogenic rs62517163 GRCh37 Chromosome 12, 103237509: 103237509
22 PAH NM_000277.2(PAH): c.1157A> G (p.Tyr386Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62516141 GRCh37 Chromosome 12, 103237466: 103237466
23 PAH NM_000277.2(PAH): c.1184C> G (p.Ala395Gly) single nucleotide variant Likely pathogenic rs62508736 GRCh37 Chromosome 12, 103237439: 103237439
24 PAH NM_000277.2(PAH): c.1199+17G> A single nucleotide variant Likely pathogenic rs62508613 GRCh37 Chromosome 12, 103237407: 103237407
25 PAH NM_000277.2(PAH): c.1199+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs62509015 GRCh37 Chromosome 12, 103237423: 103237423
26 PAH NM_000277.2(PAH): c.1200-8G> A single nucleotide variant Likely pathogenic rs62507261 GRCh37 Chromosome 12, 103234301: 103234301
27 PAH NM_000277.2(PAH): c.1301C> A (p.Ala434Asp) single nucleotide variant Likely pathogenic rs199475659 GRCh37 Chromosome 12, 103234192: 103234192
28 PAH NM_000277.2(PAH): c.1315+2T> C single nucleotide variant Likely pathogenic rs1799970 GRCh37 Chromosome 12, 103234176: 103234176
29 PAH NM_000277.2(PAH): c.1355dup (p.Ter453Valfs) duplication Likely pathogenic rs199475641 GRCh37 Chromosome 12, 103232957: 103232957
30 PAH NM_000277.2(PAH): c.168+1G> A single nucleotide variant Likely pathogenic rs62514898 GRCh37 Chromosome 12, 103306568: 103306568
31 PAH NM_000277.2(PAH): c.168+5G> C single nucleotide variant Pathogenic rs62507288 GRCh37 Chromosome 12, 103306564: 103306564
32 PAH NM_000277.2(PAH): c.208_210delTCT (p.Ser70del) deletion Pathogenic rs62642094 GRCh37 Chromosome 12, 103288655: 103288657
33 PAH NM_000277.2(PAH): c.250G> T (p.Asp84Tyr) single nucleotide variant Pathogenic rs62514902 GRCh37 Chromosome 12, 103288615: 103288615
34 PAH NM_000277.2(PAH): c.311C> A (p.Ala104Asp) single nucleotide variant Pathogenic rs62642929 GRCh37 Chromosome 12, 103288554: 103288554
35 PAH NM_000277.2(PAH): c.398_401delATCA (p.Asn133Argfs) deletion Pathogenic rs199475605 GRCh37 Chromosome 12, 103271280: 103271283
36 PAH NM_000277.2(PAH): c.400C> T (p.Gln134Ter) single nucleotide variant Likely pathogenic rs199475680 GRCh37 Chromosome 12, 103271281: 103271281
37 PAH NM_000277.2(PAH): c.434A> T (p.Asp145Val) single nucleotide variant Pathogenic rs140175796 GRCh37 Chromosome 12, 103271247: 103271247
38 PAH NM_000277.2(PAH): c.441+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs62517166 GRCh37 Chromosome 12, 103271239: 103271239
39 PAH NM_000277.2(PAH): c.472C> T (p.Arg158Trp) single nucleotide variant Pathogenic rs75166491 GRCh37 Chromosome 12, 103260411: 103260411
40 PAH NM_000277.2(PAH): c.47_48delCT (p.Ser16Terfs) deletion Pathogenic/Likely pathogenic rs62642906 GRCh37 Chromosome 12, 103310861: 103310862
41 PAH NM_000277.2(PAH): c.503delA (p.Tyr168Serfs) deletion Pathogenic rs199475661 GRCh37 Chromosome 12, 103260380: 103260380
42 PAH NM_000277.2(PAH): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs199475575 GRCh37 Chromosome 12, 103249094: 103249094
43 PAH NM_000277.2(PAH): c.529G> A (p.Val177Met) single nucleotide variant Pathogenic rs199475602 GRCh37 Chromosome 12, 103249091: 103249091
44 PAH NM_000277.2(PAH): c.558_559delAT (p.Trp187Glyfs) deletion Likely pathogenic rs62517207 GRCh37 Chromosome 12, 103249061: 103249062
45 PAH NM_000277.2(PAH): c.561G> A (p.Trp187Ter) single nucleotide variant Likely pathogenic rs62507336 GRCh37 Chromosome 12, 103249059: 103249059
46 PAH NM_000277.2(PAH): c.580_581delCT (p.Leu194Glufs) deletion Likely pathogenic rs62508587 GRCh37 Chromosome 12, 103249039: 103249040
47 PAH NM_000277.2(PAH): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic/Likely pathogenic rs5030844 GRCh37 Chromosome 12, 103249039: 103249039
48 PAH NM_000277.2(PAH): c.58C> T (p.Gln20Ter) single nucleotide variant Likely pathogenic rs199475585 GRCh37 Chromosome 12, 103310851: 103310851
49 PAH NM_000277.2(PAH): c.60+5G> T single nucleotide variant Pathogenic rs62514895 GRCh37 Chromosome 12, 103310844: 103310844
50 PAH NM_000277.2(PAH): c.631C> A (p.Pro211Thr) single nucleotide variant Likely pathogenic rs62514931 GRCh37 Chromosome 12, 103248989: 103248989

Expression for Phenylketonuria

Search GEO for disease gene expression data for Phenylketonuria.

Pathways for Phenylketonuria

Pathways related to Phenylketonuria according to KEGG:

36
# Name Kegg Source Accession
1 Phenylalanine, tyrosine and tryptophan biosynthesis hsa00400
2 Folate biosynthesis hsa00790

Pathways related to Phenylketonuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ACADM BTD G6PD GCH1 HADHA OTC
2
Show member pathways
11.98 ACADM G6PD HADHA OTC PAH
3 11.77 ACADM HADHA PAH TH TPH1
4
Show member pathways
11.7 PAH QDPR SLC7A5
5 11.58 ACADM OTC TH TPH1
6
Show member pathways
11.01 ACADM HADHA
7 10.96 ACADM HADHA
8
Show member pathways
10.89 PAH TH TPH1
9
Show member pathways
10.56 GCH1 PAH PTS QDPR TH TPH1
10
Show member pathways
10.4 ACADM HADHA

GO Terms for Phenylketonuria

Cellular components related to Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.17 ACADM HADHA NIPSNAP1 OTC PTS QDPR

Biological processes related to Phenylketonuria according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.88 ACADM GCH1 HADHA PAH
2 response to drug GO:0042493 9.81 BGLAP HADHA OTC TH
3 oxidation-reduction process GO:0055114 9.8 ACADM G6PD HADHA PAH QDPR TH
4 fatty acid metabolic process GO:0006631 9.74 ACADM HADHA TH
5 response to organic cyclic compound GO:0014070 9.71 BGLAP G6PD TH
6 response to ethanol GO:0045471 9.7 BGLAP G6PD TH
7 response to nutrient levels GO:0031667 9.58 BGLAP OTC TH
8 regulation of nitric-oxide synthase activity GO:0050999 9.56 GCH1 PTS
9 response to immobilization stress GO:0035902 9.55 TH TPH1
10 response to zinc ion GO:0010043 9.54 BGLAP OTC TH
11 neurotransmitter biosynthetic process GO:0042136 9.49 PAH TH
12 L-phenylalanine catabolic process GO:0006559 9.48 PAH QDPR
13 dopamine biosynthetic process GO:0042416 9.46 GCH1 TH
14 catecholamine biosynthetic process GO:0042423 9.43 PAH TH
15 tetrahydrobiopterin biosynthetic process GO:0006729 9.33 GCH1 PTS QDPR
16 dihydrobiopterin metabolic process GO:0051066 9.32 GCH1 QDPR
17 aromatic amino acid family metabolic process GO:0009072 9.13 PAH TH TPH1
18 cellular amino acid metabolic process GO:0006520 8.92 OTC PTS QDPR SLC7A5

Molecular functions related to Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 ACADM G6PD HADHA PAH QDPR TH
2 iron ion binding GO:0005506 9.43 PAH TH TPH1
3 amino acid binding GO:0016597 9.16 OTC TH
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.8 PAH TH TPH1

Sources for Phenylketonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....