PA-1
MCID: PRP001
MIFTS: 65

Propionic Acidemia (PA-1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Propionic Acidemia

MalaCards integrated aliases for Propionic Acidemia:

Name: Propionic Acidemia 57 12 25 20 43 58 36 29 54 6 44 15 70
Ketotic Hyperglycinemia 57 12 20 43 58 54
Propionyl-Coa Carboxylase Deficiency 57 12 20 43 58
Propionicacidemia 57 20 43 13
Pcc Deficiency 57 73 20 43
Hyperglycinemia with Ketoacidosis and Leukopenia 57 20 43
Glycinemia, Ketotic 57 12 20
Ketotic Glycinemia 12 20 43
Acidemia, Propionic 73 39
Propionic Aciduria 12 58
Prop 20 43
Pa-1 72 17
Propionic Acidemia Type Ii 72
Propionic Acidemia Type I 72
Hyperglycinemia, Ketotic 73
Ketotic Ii Glycinemia 12
Propionicaciduria 70
Pa-2 72

Characteristics:

Orphanet epidemiological data:

58
propionic acidemia
Inheritance: Autosomal recessive; Prevalence: >1/1000 (Canada),1-9/100000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (Italy),1-9/100000 (Germany),1-5/10000 (Saudi Arabia),1-9/100000 (Japan),1-9/100000 (Korea, Republic of); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients develop symptoms within the first few weeks of life
two complementation groups - pcca (secondary to defects in the alpha chain of pcc, ) and pccbc (secondary to defects in the beta subunit of pcc, )
course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation


HPO:

31
propionic acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Propionic Acidemia

OMIM® : 57 Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by Jurecki et al., 2019). (606054) (Updated 05-Apr-2021)

MalaCards based summary : Propionic Acidemia, also known as ketotic hyperglycinemia, is related to carbonic anhydrase va deficiency, hyperammonemia due to and metabolic acidosis, and has symptoms including seizures, vomiting and apnea. An important gene associated with Propionic Acidemia is PCCA (Propionyl-CoA Carboxylase Subunit Alpha), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Propanoate metabolism. The drugs Propofol and Desflurane have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are constipation and hypoglycemia

Disease Ontology : 12 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.

MedlinePlus Genetics : 43 Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.

GARD : 20 Propionic acidemia is an inherited condition in which the body can't breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone ( hypotonia ), and lack of energy (lethargy). This usually occurs within the first few days after birth. Without early diagnosis and treatment, these symptoms may lead to more serious medical problems, including heart abnormalities, seizures, intellectual disability, coma, and possibly death. Propionic acidemia is caused by changes ( mutations ) in the PCCA and PCCB genes and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, blood and urine testing, and may be confirmed by the results of genetic testing. Treatment includes aggressive management of decompensation events, a special protein-restricted diet and medications.

KEGG : 36 Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.

UniProtKB/Swiss-Prot : 72 Propionic acidemia type I: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
Propionic acidemia type II: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Wikipedia : 73 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the... more...

GeneReviews: NBK92946

Related Diseases for Propionic Acidemia

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

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 31.5 OTC NAGS CPS1 ASS1
2 metabolic acidosis 31.3 MCEE IVD HMGCL HLCS
3 isolated methylmalonic acidemia 31.1 MMUT MMADHC MMAB MMAA MCEE
4 biotinidase deficiency 30.7 PCCB MMUT MMAA HLCS
5 3-methylcrotonyl-coa carboxylase deficiency 30.7 PCCB MMAA LMBRD1 HLCS
6 3-methylglutaconic aciduria, type iii 30.5 UQCRFS1 MMAA IVD BLOC1S1
7 alpha-methylacetoacetic aciduria 30.4 MMACHC MMAA HMGCL HLCS
8 biotin deficiency 30.4 PCCB PCCA HLCS
9 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.4 MMUT MMACHC
10 reye syndrome 30.4 OTC HMGCL ASS1
11 vitamin b12 deficiency 30.4 MMUT MMACHC LMBRD1
12 lysinuric protein intolerance 30.3 OTC NAGS ASS1
13 disorders of intracellular cobalamin metabolism 30.3 MMADHC MMACHC LMBRD1
14 methylmalonic aciduria, cblb type 30.3 MMACHC MMAB
15 argininosuccinic aciduria 30.3 OTC NAGS CPS1 ASS1
16 orotic aciduria 30.2 OTC NAGS CPS1 ASS1
17 citrullinemia, classic 30.2 OTC NAGS CPS1 ASS1
18 argininemia 30.2 OTC NAGS CPS1 ASS1
19 glutamate formiminotransferase deficiency 30.2 MMAA LMBRD1
20 methylmalonic aciduria, cbla type 30.1 MMUT MMADHC MMAB MMAA MCEE
21 isovaleric acidemia 30.0 PCCB NAGS MMUT MMAA IVD CPS1
22 homocystinuria 30.0 OTC MMUT MMADHC MMACHC MMAB LMBRD1
23 organic acidemia 29.9 PCCB PCCA NAGS MMUT MMADHC MMACHC
24 maple syrup urine disease 29.8 PCCB PCCA OTC NAGS MMUT MMADHC
25 methylmalonic acidemia 29.8 PCCB PCCA OTC NAGS MMUT MMADHC
26 spasticity, childhood-onset, with hyperglycinemia 11.6
27 d-glyceric aciduria 11.5
28 atypical glycine encephalopathy 11.2
29 autosomal recessive disease 10.6
30 inherited metabolic disorder 10.6
31 hypotonia 10.6
32 atrial standstill 1 10.5
33 ocular motor apraxia 10.5
34 teratocarcinoma 10.5
35 dilated cardiomyopathy 10.4
36 optic nerve disease 10.4
37 alacrima, achalasia, and mental retardation syndrome 10.4
38 postpartum psychosis 10.3 OTC ASS1
39 autism spectrum disorder 10.3
40 long qt syndrome 10.3
41 kidney disease 10.3
42 neuropathy 10.3
43 pyrimidine metabolic disorder 10.3 OTC NAGS ASS1
44 immunodeficiency 34 10.3 PCCA MMUT
45 autism 10.3
46 hypoglycemia 10.3
47 encephalopathy 10.3
48 seizure disorder 10.3
49 citrullinemia, type ii, adult-onset 10.3 NAGS CPS1 ASS1
50 multiple carboxylase deficiency 10.3 PCCB PCCA OTC HLCS

Graphical network of the top 20 diseases related to Propionic Acidemia:



Diseases related to Propionic Acidemia

Symptoms & Phenotypes for Propionic Acidemia

Human phenotypes related to Propionic Acidemia:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
3 hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001987
4 organic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001992
5 propionyl-coa carboxylase deficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0003353
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
9 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
10 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
11 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
12 cerebellar hemorrhage 31 occasional (7.5%) HP:0011695
13 failure to thrive 31 HP:0001508
14 short stature 31 HP:0004322
15 feeding difficulties in infancy 31 HP:0008872
16 dehydration 31 HP:0001944
17 vomiting 31 HP:0002013
18 anemia 31 HP:0001903
19 osteoporosis 31 HP:0000939
20 thrombocytopenia 31 HP:0001873
21 apnea 31 HP:0002104
22 dystonia 31 HP:0001332
23 neutropenia 31 HP:0001875
24 eczema 31 HP:0000964
25 lethargy 31 HP:0001254
26 lactic acidosis 31 HP:0003128
27 metabolic acidosis 31 HP:0001942
28 tachypnea 31 HP:0002789
29 psychomotor retardation 31 HP:0025356
30 coma 31 HP:0001259
31 cerebral atrophy 31 HP:0002059
32 pancytopenia 31 HP:0001876
33 pancreatitis 31 HP:0001733
34 muscular hypotonia of the trunk 31 HP:0008936
35 poor appetite 31 HP:0004396
36 limb hypertonia 31 HP:0002509
37 acute encephalopathy 31 HP:0006846
38 hyperglycinemia 31 HP:0002154
39 hyperglycinuria 31 HP:0003108
40 seizure 31 HP:0001250
41 increased level of hippuric acid in urine 31 HP:0410066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Laboratory Abnormalities:
hypoglycemia
hyperammonemia
lactic acidosis
propionyl-coa carboxylase deficiency
hyperglycinemia
more
Skeletal:
osteoporosis

Neurologic Central Nervous System:
dystonia
lethargy
psychomotor retardation
coma
cerebral atrophy
more
Metabolic Features:
metabolic acidosis

Skin Nails Hair Skin:
dermatitis acidemica

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
dehydration
vomiting
feeding difficulties
decreased appetite

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia

Respiratory:
apnea
tachypnea

Cardiovascular Heart:
cardiomyopathy

Abdomen Pancreas:
pancreatitis

Clinical features from OMIM®:

606054 (Updated 05-Apr-2021)

UMLS symptoms related to Propionic Acidemia:


seizures; vomiting; apnea; lethargy; decrease in appetite

MGI Mouse Phenotypes related to Propionic Acidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ASS1 B3GAT1 CPS1 HMGCL MMAA MMACHC
2 mortality/aging MP:0010768 9.5 ASS1 B3GAT1 BLOC1S1 CPS1 HLCS HMGCL

Drugs & Therapeutics for Propionic Acidemia

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Desflurane Approved Phase 4 57041-67-5 42113
3 Anesthetics Phase 4
4 Anesthetics, General Phase 4
5 Anesthetics, Inhalation Phase 4
6
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
7
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
8
Metronidazole Approved Phase 3 443-48-1 4173
9
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
10
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
11
Cobalamin Experimental Phase 3 13408-78-1 6857388
12 carnitine Phase 3
13 Vitamins Phase 3
14 Vitamin B Complex Phase 3
15 Vitamin B12 Phase 3
16 Vitamin B 12 Phase 3
17 Vitamin B7 Phase 3
18 Anti-Bacterial Agents Phase 3
19 Anti-Infective Agents Phase 3
20 penicillins Phase 3
21
Propranolol Approved, Investigational Phase 2 525-66-6 4946
22
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
23
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
24 Anti-Arrhythmia Agents Phase 2
25 Adrenergic Antagonists Phase 2
26 Vasodilator Agents Phase 2
27 Adrenergic beta-Antagonists Phase 2
28 Ophthalmic Solutions Phase 2
29 Neurotransmitter Agents Phase 2
30 Antihypertensive Agents Phase 2
31 Adrenergic Agents Phase 2
32 Pharmaceutical Solutions Phase 2
33
Sodium citrate Approved, Investigational Phase 1 68-04-2
34
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
35 Citrate Phase 1
36 Anticoagulants Phase 1
37 Chelating Agents Phase 1
38 glutamine Phase 1
39 Calcium, Dietary Phase 1
40
Calcium Nutraceutical Phase 1 7440-70-2 271
41
tannic acid Approved 1401-55-4
42
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
43
Zinc Approved, Investigational 7440-66-6 32051
44
Propylthiouracil Approved, Investigational 51-52-5 657298
45
Hydrocortisone Approved, Vet_approved 50-23-7 5754
46
Hydrocortisone acetate Approved, Vet_approved 50-03-3
47
Acetaminophen Approved 103-90-2 1983
48
Norepinephrine Approved 51-41-2 439260
49
Capsaicin Approved 404-86-4 1548943
50
Gabapentin Approved, Investigational 60142-96-3 3446

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study Unknown status NCT02019797 Phase 4 Desflurane
2 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
3 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
4 The Physical Activity Loyalty Card Scheme: A Randomised Controlled Trial to Encourage Physical Activity Completed NCT01575262 Phase 2, Phase 3
5 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Completed NCT01599286 Phase 2 Carbaglu;Placebo
6 Safety and Efficacy of Propranolol Eye Drops in Newborns With Retinopathy of Premature (DROP-PROP) Completed NCT02014454 Phase 2 Propranolol eye drops
7 A Global, Phase 1/2, Open-Label, Dose Optimization Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants With Propionic Acidemia Recruiting NCT04159103 Phase 1, Phase 2
8 A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study Recruiting NCT04732429 Phase 2 HST5040;Placebo
9 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
10 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
11 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
12 Determining the Optimal Ratio of Branched Chain Amino Acids in Medical Foods for Methylmalonic and Propionic Acidemias (MMA/PROP) Unknown status NCT03539809
13 PROPS (PET/MRI Pre-Radiotherapy for Post-Prostatectomy Salvage) Unknown status NCT02131649
14 Effects of Yoga Training on Cardiovascular Reactivity to Psychological Stress in Patients With Hypertension Unknown status NCT03274193
15 Isolite and Dental Treatment Under Conscious Sedation: a Pilot Study to Assess the Upper Airway in a Pediatric Population Completed NCT01683851
16 Prematurity and Respiratory Outcomes Program (PROP) Core Database Protocol Completed NCT01435187
17 Improving Prematurity-Related Respiratory Outcomes at Vanderbilt: The Prematurity and Respiratory Outcomes Program (PROP) Completed NCT01460576
18 Sensitivity to 6-n-propylthiouracil (PROP) Association With Gustin (CA6) Gene Polymorphism, Salivary Zinc and BMI in Humans Completed NCT01097915
19 The Patient-Reported Outcomes Project of HCV-TARGET (PROP UP) Completed NCT02601820
20 Pathobiology and Reversibility of Prediabetes in a Biracial Cohort (PROP-ABC) Completed NCT02027571
21 Impact of a Cognitive Behavioral Stress Management Intervention on Cortisol Regulation During Pregnancy Completed NCT03627247
22 Psychoneuroimmunology and Mind-Body Interventions Completed NCT00371397
23 Yoga Versus Aerobic and Strengthening Exercises for Managing Knee Osteoarthritis Completed NCT02525341
24 Can Yoga Decrease Pain and Inflammation Among Women Aged 60 or Older: A Pilot Feasibility Study Completed NCT03790098
25 Yoga to Prevent Mobility Limitations in Older Adults: A Pilot Randomized Controlled Trial Completed NCT03544879
26 Treating Major Depression With Yoga: A Prospective, Randomized Controlled Pilot Trial Completed NCT01210651
27 Testing the Effectiveness of Child and Parent-Targeted Health Promotion Interventions in Pediatric Stem Cell Transplantation Completed NCT00760227
28 Improving Health Literacy in African-American Prostate Cancer Patients Completed NCT03322891
29 Mind/Body Interventions for Chronic Low Back and Neck Pain in Military Personnel Completed NCT03504085
30 National Taipei University of Nursing and Health Sciences Completed NCT04799574
31 Practicing Restorative Yoga or Stretching for the Metabolic Syndrome Completed NCT01024816
32 Dancing for Better Aging: Evaluating the Impact of a Dance/Movement Therapy Program for Older Adults Through an Empirical Research Approach Completed NCT02455258
33 Veterans Back to Health: A Study Comparing Yoga and Education for Veterans With Chronic Low Back Pain Completed NCT02224183
34 Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia Recruiting NCT03159026
35 The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
36 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
37 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Active, not recruiting NCT03484767
38 A Randomized Controlled Trial Utilizing the Arts to Improve Health, Resilience, and Well-Being in Individuals With Chronic Health Conditions in Underserved Neighborhoods Active, not recruiting NCT04154579
39 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)
40 A Feasibility Trial Comparing the Effectiveness of Partnered YOCAS©® Yoga to Non-partnered YOCAS©® Yoga and Standard Care for Treating Insomnia in Cancer Survivors and Caregivers Not yet recruiting NCT04458194
41 CSP #2009 - Sequential and Comparative Evaluation of Pain Treatment Effectiveness Response: The SCEPTER Trial Not yet recruiting NCT04142177
42 Pilot Studies of Innovative Hand Washing Interventions for Internally Displaced Populations in Ethiopia Not yet recruiting NCT04078633
43 Effect of Rhythm-based Multitask Training on Fall Rate in Community-dwelling Older Adults: An Assessor-blinded, Randomized, Controlled Trial Suspended NCT04620421

Search NIH Clinical Center for Propionic Acidemia

Cochrane evidence based reviews: propionic acidemia

Genetic Tests for Propionic Acidemia

Genetic tests related to Propionic Acidemia:

# Genetic test Affiliating Genes
1 Propionic Acidemia 29 PCCA PCCB

Anatomical Context for Propionic Acidemia

MalaCards organs/tissues related to Propionic Acidemia:

40
Liver, Eye, Brain, Cortex, Kidney, Prostate, Skin

Publications for Propionic Acidemia

Articles related to Propionic Acidemia:

(show top 50) (show all 725)
# Title Authors PMID Year
1
New splicing mutations in propionic acidemia. 61 25 6 57 54
17051315 2006
2
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. 6 57 54 61
10502773 1999
3
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. 54 25 6 61
19157943 2009
4
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. 54 25 6 61
15464417 2004
5
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 61 54 25 6
15059621 2004
6
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. 61 54 6 25
11749052 2001
7
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. 25 54 6 61
11592820 2001
8
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. 61 6 57
2037281 1991
9
Propionic acidemia in the Arab World. 6 25 61
25865301 2015
10
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 61 6 25
24863100 2014
11
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. 25 6 61
24916042 2014
12
Propionic acidemia associated with visual hallucinations. 61 25 6
22156789 2012
13
Mutation analysis in 54 propionic acidemia patients. 61 6 25
22033733 2012
14
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. 25 6 61
12189489 2002
15
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. 25 6 61
10820128 2000
16
Infectious complications of propionic acidemia in Saudia Arabia. 25 57 61
9727749 1998
17
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. 61 57 25
1481826 1992
18
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 6 25
24516753 2014
19
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 6 25
24059531 2013
20
Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase. 6 25
20725044 2010
21
Unusual presentation of propionic acidaemia as isolated cardiomyopathy. 25 6
19238581 2009
22
[Gene mutation analysis in patients with propionic acidemia]. 6 54 61
19099776 2008
23
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase. 6 54 61
15949719 2005
24
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. 54 6 61
12757933 2003
25
Functional characterization of PCCA mutations causing propionic acidemia. 54 6 61
12385775 2002
26
Molecular analysis of PCCB gene in Korean patients with propionic acidemia. 61 54 6
12409268 2002
27
Potential relationship between genotype and clinical outcome in propionic acidaemia patients. 25 6
10780784 2000
28
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. 61 54 6
10101253 1999
29
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. 54 61 6
9887338 1999
30
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. 61 54 6
9683601 1998
31
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients. 54 61 6
9452096 1998
32
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. 61 6 54
9385377 1997
33
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. 6 54 61
2249848 1990
34
Defective propionate carboxylation in ketotic hyperglycinaemia. 25 57
4180220 1969
35
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia. 61 57
33127324 2020
36
Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. 61 57
30879957 2019
37
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. 6 61
30705822 2019
38
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. 61 6
30274917 2018
39
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 61 6
30159853 2018
40
Long-term outcomes in Amish patients diagnosed with propionic acidemia. 61 6
30013935 2018
41
Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia. 61 6
29978829 2018
42
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. 61 6
29679984 2018
43
Propionyl-CoA carboxylase - A review. 61 6
29033250 2017
44
Anaplerotic therapy in propionic acidemia. 6 61
28712602 2017
45
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 61 6
27900673 2017
46
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. 6 61
27776753 2017
47
Autism in patients with propionic acidemia. 61 6
27825584 2016
48
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. 61 6
28649556 2016
49
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. 6 61
27227689 2016
50
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. 6 61
26740382 2016

Variations for Propionic Acidemia

ClinVar genetic disease variations for Propionic Acidemia:

6 (show top 50) (show all 509)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCCB NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) Duplication Pathogenic 12017 rs202247821 GRCh37: 3:136048785-136048786
GRCh38: 3:136329943-136329944
2 PCCB NM_000532.5(PCCB):c.654+462A>G SNV Pathogenic 12019 rs1576327011 GRCh37: 3:136003251-136003251
GRCh38: 3:136284409-136284409
3 PCCA PCCA, 4-BP DEL, 1824IVS, +3 Deletion Pathogenic 12020 GRCh37:
GRCh38:
4 PCCA PCCA, 9-BP DEL, 1771IVS, -2 Deletion Pathogenic 12021 GRCh37:
GRCh38:
5 PCCA PCCA, 2-BP INS, 1824IVS, +3 Insertion Pathogenic 12022 GRCh37:
GRCh38:
6 PCCA NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) SNV Pathogenic 12023 rs121964957 GRCh37: 13:100920985-100920985
GRCh38: 13:100268731-100268731
7 PCCA NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) SNV Pathogenic 12024 rs121964958 GRCh37: 13:100953766-100953766
GRCh38: 13:100301512-100301512
8 PCCA PCCA, IVS14, A-G, -1416 SNV Pathogenic 12025 GRCh37:
GRCh38:
9 PCCA NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) SNV Pathogenic 38866 rs202247816 GRCh37: 13:101020767-101020767
GRCh38: 13:100368513-100368513
10 PCCA NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) SNV Pathogenic 38867 rs202247814 GRCh37: 13:100807344-100807344
GRCh38: 13:100155090-100155090
11 PCCA NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) SNV Pathogenic 38868 rs202247815 GRCh37: 13:100861608-100861608
GRCh38: 13:100209354-100209354
12 PCCA NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) SNV Pathogenic 38869 rs121964957 GRCh37: 13:100920985-100920985
GRCh38: 13:100268731-100268731
13 PCCB NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) SNV Pathogenic 38880 rs202247822 GRCh37: 3:136048804-136048804
GRCh38: 3:136329962-136329962
14 PCCB NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) SNV Pathogenic 38882 rs202247817 GRCh37: 3:135974794-135974794
GRCh38: 3:136255952-136255952
15 PCCB NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) SNV Pathogenic 38883 rs202247818 GRCh37: 3:135975428-135975428
GRCh38: 3:136256586-136256586
16 PCCB NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) SNV Pathogenic 38884 rs202247819 GRCh37: 3:135980821-135980821
GRCh38: 3:136261979-136261979
17 PCCB PCCB, 8-BP DEL, NT3 Deletion Pathogenic 12012 GRCh37:
GRCh38:
18 PCCB PCCB, 14-BP DEL, 12-BP INS, NT1218 Indel Pathogenic 12013 GRCh37:
GRCh38:
19 PCCB NG_008939.1:g.883_8934del8052 Deletion Pathogenic 132644 GRCh37: 3:135965049-135973100
GRCh38: 3:136246207-136254258
20 PCCA NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) SNV Pathogenic 218248 rs879253801 GRCh37: 13:100764299-100764299
GRCh38: 13:100112045-100112045
21 PCCA NM_000282.3(PCCA):c.183delA Deletion Pathogenic 218265 rs879253812 GRCh37: 13:100755210-100755210
GRCh38: 13:100102956-100102956
22 PCCB NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) SNV Pathogenic 217891 rs777027944 GRCh37: 3:136046008-136046008
GRCh38: 3:136327166-136327166
23 PCCA NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) Deletion Pathogenic 218254 rs879253806 GRCh37: 13:100953836-100953839
GRCh38: 13:100301582-100301585
24 PCCA NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) SNV Pathogenic 218260 rs760387660 GRCh37: 13:100809593-100809593
GRCh38: 13:100157339-100157339
25 PCCA NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) SNV Pathogenic 218263 rs879253811 GRCh37: 13:100861665-100861665
GRCh38: 13:100209411-100209411
26 PCCA NM_000282.4(PCCA):c.184-1G>A SNV Pathogenic 218257 rs879253807 GRCh37: 13:100764094-100764094
GRCh38: 13:100111840-100111840
27 PCCA NM_000282.4(PCCA):c.600+1G>T SNV Pathogenic 218249 rs879253802 GRCh37: 13:100861718-100861718
GRCh38: 13:100209464-100209464
28 PCCA NM_000282.4(PCCA):c.134_135del (p.Leu45fs) Deletion Pathogenic 218261 rs879253809 GRCh37: 13:100755165-100755166
GRCh38: 13:100102911-100102912
29 PCCA NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) SNV Pathogenic 218253 rs774949844 GRCh37: 13:101179950-101179950
GRCh38: 13:100527696-100527696
30 PCCA NM_000282.4(PCCA):c.431G>T (p.Gly144Val) SNV Pathogenic 218259 rs879253808 GRCh37: 13:100809557-100809557
GRCh38: 13:100157303-100157303
31 PCCB NM_000532.5(PCCB):c.638del (p.Phe213fs) Deletion Pathogenic 459942 rs1196443543 GRCh37: 3:136002772-136002772
GRCh38: 3:136283930-136283930
32 PCCB NM_000532.5(PCCB):c.966+1G>T SNV Pathogenic 554742 rs1385850128 GRCh37: 3:136019954-136019954
GRCh38: 3:136301112-136301112
33 PCCB NM_000532.5(PCCB):c.825dup (p.Asn276fs) Duplication Pathogenic 567152 rs748393514 GRCh37: 3:136016854-136016855
GRCh38: 3:136298012-136298013
34 PCCA NM_000282.4(PCCA):c.2T>A (p.Met1Lys) SNV Pathogenic 638018 rs372093520 GRCh37: 13:100741376-100741376
GRCh38: 13:100089122-100089122
35 PCCA NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) SNV Pathogenic 638019 rs1593996636 GRCh37: 13:100741417-100741417
GRCh38: 13:100089163-100089163
36 PCCA NM_000282.4(PCCA):c.305del (p.His102fs) Deletion Pathogenic 638020 rs1594413545 GRCh37: 13:100807237-100807237
GRCh38: 13:100154983-100154983
37 PCCA NM_000282.4(PCCA):c.332_333GT[1] (p.Val112fs) Microsatellite Pathogenic 638021 rs1594413897 GRCh37: 13:100807263-100807264
GRCh38: 13:100155009-100155010
38 PCCA NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) Duplication Pathogenic 638030 rs1595236063 GRCh37: 13:100959488-100959489
GRCh38: 13:100307234-100307235
39 PCCA NM_000282.4(PCCA):c.1920del (p.Arg641fs) Deletion Pathogenic 638031 rs1594099731 GRCh37: 13:101167700-101167700
GRCh38: 13:100515446-100515446
40 PCCB NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT Indel Pathogenic 623324 rs1559995259 GRCh37: 3:135974649-135974702
GRCh38: 3:136255807-136255860
41 PCCB NM_000532.5(PCCB):c.839del (p.Leu280fs) Deletion Pathogenic 638039 rs1576337935 GRCh37: 3:136016869-136016869
GRCh38: 3:136298027-136298027
42 PCCB NM_000532.5(PCCB):c.968_970TTG[1] (p.Val324del) Microsatellite Pathogenic 638040 rs1353971489 GRCh37: 3:136035783-136035785
GRCh38: 3:136316941-136316943
43 PCCB NM_000532.5(PCCB):c.1220del (p.Gly407fs) Deletion Pathogenic 638041 rs1576360488 GRCh37: 3:136046014-136046014
GRCh38: 3:136327172-136327172
44 PCCA NM_000282.4(PCCA):c.656dup (p.Ala220fs) Duplication Pathogenic 635308 rs1594961338 GRCh37: 13:100909865-100909866
GRCh38: 13:100257611-100257612
45 PCCA NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) Indel Pathogenic 638045 rs1594090133 GRCh37: 13:100755162-100755162
GRCh38: 13:100102908-100102908
46 PCCA NC_000013.11:g.(?_100111831)_(100112071_?)del Deletion Pathogenic 650185 GRCh37: 13:100764085-100764325
GRCh38: 13:100111831-100112071
47 PCCA NC_000013.11:g.(?_100330541)_(100368594_?)del Deletion Pathogenic 650714 GRCh37: 13:100982795-101020848
GRCh38: 13:100330541-100368594
48 PCCB NC_000003.12:g.(?_136250366)_(136250568_?)del Deletion Pathogenic 653524 GRCh37: 3:135969208-135969410
GRCh38: 3:136250366-136250568
49 PCCA NC_000013.11:g.(?_100111821)_(100112081_?)del Deletion Pathogenic 654095 GRCh37: 13:100764075-100764335
GRCh38: 13:100111821-100112081
50 overlap with 2 genes NC_000013.11:g.(?_100527665)_(100530447_?)del Deletion Pathogenic 657918 GRCh37: 13:101179919-101182701
GRCh38: 13:100527665-100530447

UniProtKB/Swiss-Prot genetic disease variations for Propionic Acidemia:

72 (show all 41)
# Symbol AA change Variation ID SNP ID
1 PCCA p.Ala75Pro VAR_009087 rs794727479
2 PCCA p.Arg77Trp VAR_009088 rs141371306
3 PCCA p.Ala138Thr VAR_009089 rs202247814
4 PCCA p.Ile164Thr VAR_009090 rs202247815
5 PCCA p.Met229Lys VAR_009091 rs375628794
6 PCCA p.Gln297Arg VAR_009092
7 PCCA p.Asp368Gly VAR_009093
8 PCCA p.Met373Lys VAR_009094 rs121964958
9 PCCA p.Gly379Val VAR_009095 rs794727087
10 PCCA p.Arg399Gln VAR_009096 rs130190462
11 PCCA p.Pro423Leu VAR_009097 rs144385889
12 PCCA p.Trp559Leu VAR_009099 rs118169528
13 PCCA p.Gly631Arg VAR_009100 rs796052018
14 PCCA p.Gly668Arg VAR_009101 rs771438170
15 PCCA p.Gly197Glu VAR_023843
16 PCCA p.Cys398Arg VAR_023844
17 PCCB p.Arg44Pro VAR_000271
18 PCCB p.Ser106Arg VAR_000272
19 PCCB p.Gly131Arg VAR_000273
20 PCCB p.Arg165Trp VAR_000274 rs879253815
21 PCCB p.Glu168Lys VAR_000275 rs121964960
22 PCCB p.Gly198Asp VAR_000276 rs762354873
23 PCCB p.Arg410Trp VAR_000278 rs121964959
24 PCCB p.Arg512Cys VAR_000280 rs186710233
25 PCCB p.Leu519Pro VAR_000281 rs202247822
26 PCCB p.Val205Asp VAR_009082
27 PCCB p.Pro228Leu VAR_009083 rs374722096
28 PCCB p.Thr428Ile VAR_009084 rs111033542
29 PCCB p.Met442Thr VAR_009085
30 PCCB p.Asn536Asp VAR_009086 rs202247823
31 PCCB p.Arg67Ser VAR_023847 rs747053913
32 PCCB p.Val107Met VAR_023848 rs155377411
33 PCCB p.Gly112Asp VAR_023849 rs202247818
34 PCCB p.Ala153Pro VAR_023850 rs202247819
35 PCCB p.Arg165Gln VAR_023851 rs130471404
36 PCCB p.Gly188Arg VAR_023852 rs746102997
37 PCCB p.Gly246Val VAR_023853
38 PCCB p.Ile430Leu VAR_023855
39 PCCB p.Tyr435Cys VAR_023856 rs121964961
40 PCCB p.Tyr439Cys VAR_023857 rs769521436
41 PCCB p.Ala468Thr VAR_023858 rs775563122

Expression for Propionic Acidemia

Search GEO for disease gene expression data for Propionic Acidemia.

Pathways for Propionic Acidemia

Pathways related to Propionic Acidemia according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Propanoate metabolism hsa00640

Pathways related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 UQCRFS1 PCCB PCCA OTC NAGS MMUT
2
Show member pathways
12.77 PCCB PCCA MMUT MMAA MCEE HMGCL
3
Show member pathways
12.51 PCCB PCCA MMUT MMADHC MMACHC MMAB
4
Show member pathways
12.08 PCCB PCCA OTC NAGS MMUT MCEE
5
Show member pathways
11.92 PCCB PCCA MMUT MCEE IVD HMGCL
6 11.83 OTC MMUT HMGCL CPS1 ASS1
7
Show member pathways
11.77 PCCB PCCA MMUT MMADHC MMACHC MMAA
8
Show member pathways
11.62 PCCB PCCA MMUT MMAA MCEE
9 11.34 PCCB PCCA MMUT MCEE
10 11.27 PCCB PCCA MMUT MCEE
11
Show member pathways
11.19 OTC NAGS CPS1 ASS1
12
Show member pathways
11.11 OTC NAGS CPS1 ASS1
13
Show member pathways
11.03 PCCA MCEE
14 10.94 MMACHC LMBRD1
15
Show member pathways
10.63 PCCB PCCA
16 10.42 MMUT MMADHC MMACHC MMAB MMAA LMBRD1
17
Show member pathways
10.14 MMUT MMAA

GO Terms for Propionic Acidemia

Cellular components related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.86 UQCRFS1 PCCB PCCA OTC NAGS MMUT
2 mitochondrial matrix GO:0005759 9.4 PCCB PCCA OTC NAGS MMUT MMAB

Biological processes related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.73 OTC HMGCL CPS1 ASS1
2 response to zinc ion GO:0010043 9.67 OTC CPS1 ASS1
3 cellular response to glucagon stimulus GO:0071377 9.59 CPS1 ASS1
4 response to fatty acid GO:0070542 9.58 HMGCL ASS1
5 response to growth hormone GO:0060416 9.58 CPS1 ASS1
6 midgut development GO:0007494 9.58 OTC CPS1 ASS1
7 response to amine GO:0014075 9.57 CPS1 ASS1
8 homocysteine metabolic process GO:0050667 9.56 MMUT CPS1
9 leucine catabolic process GO:0006552 9.55 IVD HMGCL
10 cellular response to ammonium ion GO:0071242 9.54 CPS1 ASS1
11 biotin metabolic process GO:0006768 9.54 PCCB PCCA HLCS
12 citrulline biosynthetic process GO:0019240 9.52 OTC CPS1
13 cellular response to oleic acid GO:0071400 9.51 CPS1 ASS1
14 arginine biosynthetic process GO:0006526 9.5 OTC NAGS ASS1
15 response to biotin GO:0070781 9.48 OTC HLCS
16 anion homeostasis GO:0055081 9.46 OTC CPS1
17 urea cycle GO:0000050 9.46 OTC NAGS CPS1 ASS1
18 cobalamin biosynthetic process GO:0009236 9.43 MMACHC MMAB MMAA
19 cobalamin metabolic process GO:0009235 9.43 MMUT MMADHC MMACHC MMAB MMAA LMBRD1
20 short-chain fatty acid catabolic process GO:0019626 9.02 PCCB PCCA MMUT MMAA MCEE

Molecular functions related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 9.37 OTC ASS1
2 ligase activity GO:0016874 9.35 PCCB PCCA HLCS CPS1 ASS1
3 modified amino acid binding GO:0072341 9.32 MMUT CPS1
4 biotin binding GO:0009374 9.26 PCCA HLCS
5 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCB PCCA
6 cobalamin binding GO:0031419 8.92 MMUT MMACHC MMAB LMBRD1

Sources for Propionic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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