MCID: ORN006
MIFTS: 61

Ornithine Transcarbamylase Deficiency malady

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

Aliases & Classifications for Ornithine Transcarbamylase Deficiency

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ornithine Transcarbamylase Deficiency:

Name: Ornithine Transcarbamylase Deficiency 52 11 23 48 24 25 54 70 12 50 35
Ornithine Carbamoyltransferase Deficiency 35 11 23 48 24 54 70 13 68
Otc Deficiency 23 48 24 54 70
Ornithine Carbamoyltransferase Deficiency Disease 25 27 50 39
Otcd 48 70
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 70
 
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 52
Hyperammonemia Due to Ornithine Transcarbamylase Deficiency 24
Ornithine Carbamoyl Transferase Deficiency 24
Deficiency of Citrulline Phosphorylase 11
Ornithine Transcarbamylase 12
Oct Deficiency 54

Characteristics:

Orphanet epidemiological data:

54
ornithine transcarbamylase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Australia),1-9/100000 (Finland),1-9/1000000 (Canada),1-9/100000 (United States),1-9/100000 (Worldwide); Age of onset: All ages,Neonatal; Age of death: any age,infantile

HPO:

64
ornithine transcarbamylase deficiency:
Inheritance: x-linked recessive inheritance

GeneReviews:

23
Penetrance: penetrance for otc deficiency is complete in hemizygous males...


Classifications:



External Ids:

OMIM52 311250
Disease Ontology11 DOID:9271
ICD1030 E72.4
NCIt45 C84957
SNOMED-CT62 124249000, 80908008
Orphanet54 ORPHA664
UMLS via Orphanet69 C0268542
MESH via Orphanet40 D020163
ICD10 via Orphanet31 E72.4

Summaries for Ornithine Transcarbamylase Deficiency

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UniProtKB/Swiss-Prot:70 Ornithine carbamoyltransferase deficiency: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.

MalaCards based summary: Ornithine Transcarbamylase Deficiency, also known as ornithine carbamoyltransferase deficiency, is related to orotic aciduria and carbamoylphosphate synthetase i deficiency, and has symptoms including hepatic failure, splenomegaly and hypoglycemia. An important gene associated with Ornithine Transcarbamylase Deficiency is OTC (Ornithine Carbamoyltransferase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. Affiliated tissues include liver, brain and testes.

Genetics Home Reference:25 Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

OMIM:52 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

Disease Ontology:11 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

NIH Rare Diseases:48 Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed. Last updated: 11/30/2015

Wikipedia:71 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

GeneReviews for NBK154378

Related Diseases for Ornithine Transcarbamylase Deficiency

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Graphical network of the top 20 diseases related to Ornithine Transcarbamylase Deficiency:



Diseases related to ornithine transcarbamylase deficiency

Symptoms & Phenotypes for Ornithine Transcarbamylase Deficiency

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Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Human phenotypes related to Ornithine Transcarbamylase Deficiency:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatic failure64 54 hallmark (90%) Very frequent (99-80%) HP:0001399
2 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hypoglycemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001943
4 hyperammonemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001987
5 pyloric stenosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002021
6 aminoaciduria64 54 hallmark (90%) Very frequent (99-80%) HP:0003355
7 stroke64 rare (5%) HP:0001297
8 irritability64 HP:0000737
9 intellectual disability64 HP:0001249
10 seizures64 HP:0001250
11 lethargy64 HP:0001254
12 coma64 HP:0001259
13 global developmental delay64 HP:0001263
14 failure to thrive64 HP:0001508
15 respiratory alkalosis64 HP:0001950
16 episodic ammonia intoxication64 HP:0001951
17 vomiting64 HP:0002013
18 protein avoidance64 HP:0002038
19 episodic ataxia64 HP:0002131
20 cerebral edema64 HP:0002181
21 hyperglutaminemia64 HP:0003217
22 low plasma citrulline64 HP:0003572

UMLS symptoms related to Ornithine Transcarbamylase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency

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Drugs for Ornithine Transcarbamylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetohydroxamic AcidapprovedPhase 1, Phase 21546-88-31990
Synonyms:
00507_FLUKA
159034_ALDRICH
546-88-3
A0051
AC1L1COH
AC1Q1L7G
AHA
AI3-62232
AKOS000172340
Acetamide, N-hydroxy- (9CI)
Acethydroxamic acid
Acethydroxamsaeure
Acethydroxamsaeure [German]
Acethydroxamsaure
Acetic acid, oxime
Acetohydroxamate
Acetohydroxamic acid
Acetohydroxamic acid (USP/INN)
Acetohydroxamic acid [USAN:INN]
Acetohydroximic acid
Acetyl hydroxyamino
Acetylhydroxamic acid
Acide acetohydroxamique
Acide acetohydroxamique [French]
Acido acetohidroxamico
Acido acetohidroxamico [Spanish]
Acidum acetohydroxamicum
Acidum acetohydroxamicum [Latin]
BSPBio_001790
C06808
CCRIS 1730
CHEBI:27777
CHEBI:49029
CHEMBL734
CID1990
Cetohyroxamic acid
D00220
DB00551
DivK1c_000821
EINECS 208-913-8
HAE
HMS1920A07
HMS2091G07
 
HMS502J03
HSDB 3585
I08-0057
IDI1_000821
KBio1_000821
KBio2_000360
KBio2_002928
KBio2_005496
KBio3_001290
KBioGR_000556
KBioSS_000360
LS-13067
Lithostat
Lithostat (TN)
MLS001076662
Methylhydroxamic acid
MolPort-001-769-610
N-Acetyl hydroxyacetamide
N-Acetylhydroxylamine
N-Hydroxyacetamide
N-hydroxyacetimidic acid
N-hydroxyethanimidic acid
NCGC00094576-01
NCGC00094576-02
NCGC00094576-03
NINDS_000821
NSC 176136
NSC176136
NSC5073
Prestwick_38
S14-0751
SMR000499570
SPBio_000098
SPECTRUM1500103
Spectrum2_000109
Spectrum3_000285
Spectrum4_000138
Spectrum5_000812
Spectrum_000020
UNII-4RZ82L2GY5
WLN: QMV1
ZINC04658603
acetohydroxamic acid
cetohyroxamic acid
sJX`HLdmMAH`
2HematinicsPhase 21630
3Liver ExtractsPhase 2, Phase 13868
4
OrnithineNutraceuticalPhase 2, Phase 1693184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
5Glutamic AcidNutraceuticalPhase 2214
6Vaccines6428

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1N-Carbamylglutamate (Carbaglu) In The Treatment Of HyperammonemiaRecruitingNCT00843921Phase 2, Phase 3
2Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersCompletedNCT00718627Phase 2
3Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
4Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC DeficiencyRecruitingNCT02991144Phase 1, Phase 2
5Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaRecruitingNCT01599286Phase 2
6Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
7Study of Treatment and Metabolism in Patients With Urea Cycle DisordersUnknown statusNCT00004307Phase 1
8Hepatocyte Transplantation for Liver Based Metabolic DisordersSuspendedNCT01345578Phase 1
9Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004498Phase 1
10Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004386Phase 1
11Neurologic Injuries in Adults With Urea Cycle DisordersCompletedNCT00472732
12Neuroimaging and Neuropsychological Outcomes in Urea Cycle DisordersRecruitingNCT02935283
13Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRITerminatedNCT01569568
14The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

Search NIH Clinical Center for Ornithine Transcarbamylase Deficiency

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Ornithine Transcarbamylase Deficiency:
Hepatocyte transplantation for treatment of liver disorders
Promethera
Embryonic/Adult Cultured Cells Related to Ornithine Transcarbamylase Deficiency:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053


Cochrane evidence based reviews: ornithine carbamoyltransferase deficiency disease

Genetic Tests for Ornithine Transcarbamylase Deficiency

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Genetic tests related to Ornithine Transcarbamylase Deficiency:

id Genetic test Affiliating Genes
1 Ornithine Carbamoyltransferase Deficiency27
2 Ornithine Transcarbamylase Deficiency24 OTC

Anatomical Context for Ornithine Transcarbamylase Deficiency

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MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

36
Liver, Brain, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ornithine Transcarbamylase Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate

Publications for Ornithine Transcarbamylase Deficiency

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Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). (27070778)
2016
2
Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency. (26819360)
2016
3
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency. (27000017)
2016
4
Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency. (26791129)
2016
5
Hiding in Plain Sight, A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation. (27997078)
2016
6
Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors. (27891735)
2016
7
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome. (26753873)
2016
8
Fetal Gene Therapy for Ornithine Transcarbamylase Deficiency by Intrahepatic Plasmid DNA-Micro-Bubble Injection Combined with Hepatic Ultrasound Insonation. (26995155)
2016
9
Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report. (27447480)
2016
10
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. (25994866)
2015
11
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. (26067829)
2015
12
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. (25434494)
2015
13
Early intervention for late-onset ornithine transcarbamylase deficiency. (25711267)
2015
14
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. (26059767)
2015
15
Intracranial Pressure Monitoring Demonstrates that : in a Child with Ornithine Transcarbamylase Deficiency. (26427994)
2015
16
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. (25958381)
2015
17
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration. (25949836)
2015
18
Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations. (25227973)
2015
19
Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman. (26574542)
2015
20
Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency. (25932215)
2015
21
Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency. (25687292)
2015
22
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. (25647322)
2015
23
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. (24881970)
2014
24
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. (24485820)
2014
25
Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness. (24850570)
2014
26
Late-onset ornithine transcarbamylase deficiency: treatment and outcome of hyperammonemic crisis. (24616362)
2014
27
Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency]. (25297582)
2014
28
Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency]. (24711021)
2014
29
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. (25011434)
2014
30
Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiency. (24997132)
2014
31
Antepartum ornithine transcarbamylase deficiency. (25759629)
2014
32
Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. (24271778)
2013
33
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. (23769969)
2013
34
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. (23829977)
2013
35
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. (21884343)
2011
36
Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency. (20422467)
2010
37
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. (19893582)
2010
38
Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. (19783189)
2010
39
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. (20817516)
2010
40
Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency. (20406775)
2010
41
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). (20036594)
2010
42
Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report. (19640662)
2010
43
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. (19225137)
2009
44
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. (19343772)
2009
45
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. (19359120)
2009
46
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. (19567648)
2009
47
Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma. (19737127)
2009
48
Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. (20050118)
2009
49
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. (18262815)
2008
50
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. (19669271)
2008

Variations for Ornithine Transcarbamylase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Ornithine Transcarbamylase Deficiency:

70 (show all 111)
id Symbol AA change Variation ID SNP ID
1OTCp.Arg26GlnVAR_004843rs68031618
2OTCp.Gly39CysVAR_004844rs72554306
3OTCp.Arg40CysVAR_004845rs72554307
4OTCp.Arg40HisVAR_004846rs72554308
5OTCp.Thr44IleVAR_004848rs72554310
6OTCp.Leu45ProVAR_004849rs72554312
7OTCp.Leu45ValVAR_004850rs72554311
8OTCp.Asn47IleVAR_004852rs67939655
9OTCp.Gly50ArgVAR_004853rs67486158
10OTCp.Tyr55AspVAR_004854rs72554319
11OTCp.Met56ThrVAR_004855rs72554320
12OTCp.Ser60LeuVAR_004856rs72554323
13OTCp.Leu63ProVAR_004857rs72554324
14OTCp.Gly79GluVAR_004858rs72554331
15OTCp.Gly83AspVAR_004860rs72554337
16OTCp.Gly83ArgVAR_004861rs72554336
17OTCp.Glu87LysVAR_004862rs72554338
18OTCp.Lys88AsnVAR_004863rs72554339
19OTCp.Ser90ArgVAR_004864rs72554342
20OTCp.Arg92GlnVAR_004865rs66550389
21OTCp.Thr93AlaVAR_004866rs72554344
22OTCp.Arg94ThrVAR_004867rs72554345
23OTCp.Gly100AspVAR_004868rs72554349
24OTCp.Ala102GluVAR_004870rs72554350
25OTCp.His117LeuVAR_004872rs66539573
26OTCp.His117ArgVAR_004873rs66539573
27OTCp.Thr125MetVAR_004874rs72554356
28OTCp.Asp126GlyVAR_004875rs72554358
29OTCp.Arg129HisVAR_004876rs66656800
30OTCp.Leu139SerVAR_004877rs72556259
31OTCp.Arg141ProVAR_004878rs68026851
32OTCp.Arg141GlnVAR_004879rs68026851
33OTCp.Leu148PheVAR_004880rs66741318
34OTCp.Ile159ThrVAR_004881rs72556269
35OTCp.Asn161SerVAR_004882rs72556271
36OTCp.Gly162ArgVAR_004883rs66626662
37OTCp.His168GlnVAR_004884rs72556276
38OTCp.His168ArgVAR_004885rs66867430
39OTCp.Ile172MetVAR_004886rs72556280
40OTCp.Ala174ProVAR_004887rs72556281
41OTCp.Asp175ValVAR_004888rs68033093
42OTCp.Tyr176CysVAR_004889rs72556283
43OTCp.Thr178MetVAR_004890rs72556284
44OTCp.Gln180HisVAR_004892rs72556287
45OTCp.Glu181GlyVAR_004893rs72556290
46OTCp.His182LeuVAR_004894rs72556291
47OTCp.Tyr183CysVAR_004895rs72556293
48OTCp.Tyr183AspVAR_004896rs72556292
49OTCp.Gly188ArgVAR_004897rs72556294
50OTCp.Ser192ArgVAR_004898rs72556298
51OTCp.Gly195ArgVAR_004899rs67294955
52OTCp.Asp196ValVAR_004900rs72556300
53OTCp.Asp196TyrVAR_004901rs66642398
54OTCp.Gly197GluVAR_004902rs72556302
55OTCp.Leu201ProVAR_004903rs72558407
56OTCp.His202TyrVAR_004904rs72558408
57OTCp.Ser203CysVAR_004905rs72558410
58OTCp.Met206ArgVAR_004906rs72558412
59OTCp.Ser207ArgVAR_004907rs72558415
60OTCp.Ala208ThrVAR_004908rs72558416
61OTCp.Ala209ValVAR_004909rs72558417
62OTCp.Met213LysVAR_004910
63OTCp.Gln216GluVAR_004911rs72558423
64OTCp.Pro220AlaVAR_004912rs72558425
65OTCp.Pro225LeuVAR_004913rs67120076
66OTCp.Pro225ArgVAR_004914rs67120076
67OTCp.Pro225ThrVAR_004915rs72558428
68OTCp.Thr242IleVAR_004916rs72558435
69OTCp.Leu244GlnVAR_004917rs72558436
70OTCp.Thr247LysVAR_004918rs72558437
71OTCp.His255ProVAR_004919rs72558440
72OTCp.Asp263GlyVAR_004920rs72558443
73OTCp.Asp263AsnVAR_004921rs72558442
74OTCp.Thr264AlaVAR_004922rs72558444
75OTCp.Thr264IleVAR_004923rs67156896
76OTCp.Ser267ArgVAR_004924rs72558448
77OTCp.Met268ThrVAR_004925rs72558449
78OTCp.Gly269GluVAR_004926rs72558450
79OTCp.Arg277GlnVAR_004929rs66724222
80OTCp.Arg277TrpVAR_004930rs72558454
81OTCp.His302LeuVAR_004931rs67993095
82OTCp.His302GlnVAR_004932rs67870244
83OTCp.His302TyrVAR_004933rs72558463
84OTCp.Cys303ArgVAR_004934rs67468335
85OTCp.Cys303TyrVAR_004935rs72558464
86OTCp.Leu304PheVAR_004936rs72558465
87OTCp.Arg320LeuVAR_004938rs72558474
88OTCp.Arg330GlyVAR_004939rs72558478
89OTCp.Ala336SerVAR_004940rs72558486
90OTCp.Val337LeuVAR_004941rs72558487
91OTCp.Val339LeuVAR_004942rs72558488
92OTCp.Ser340ProVAR_004943rs72558489
93OTCp.Thr343LysVAR_004944rs72558491
94OTCp.Tyr345CysVAR_004946rs72558492
95OTCp.Tyr345AspVAR_004947rs66469337
96OTCp.Phe354CysVAR_004948rs72558495
97OTCp.Ile172PheVAR_009233rs72556279
98OTCp.Gly188ValVAR_009234rs72556295
99OTCp.Gly197ArgVAR_009235rs72556301
100OTCp.Ala140ProVAR_010605rs72556260
101OTCp.Asn198LysVAR_010606rs72558404
102OTCp.His214TyrVAR_010607rs72558420
103OTCp.Thr262LysVAR_010608rs67333670
104OTCp.Trp265LeuVAR_010609rs72558446
105OTCp.Glu326LysVAR_010610rs72558476
106OTCp.Ile160SerVAR_012651rs67954347
107OTCp.Leu191PheVAR_012652rs72556296
108OTCp.Met206IleVAR_012653rs72558413
109OTCp.Leu301PheVAR_012654rs72558462
110OTCp.Pro305HisVAR_012655rs67501347
111OTCp.Leu341ProVAR_012657rs72558490

Clinvar genetic disease variations for Ornithine Transcarbamylase Deficiency:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1OTCOTC, DELdeletionPathogenicChr na, -1: -1
2OTCNM_000531.5(OTC): c.422G> A (p.Arg141Gln)SNVPathogenicrs68026851GRCh37Chr X, 38260563: 38260563
3OTCNM_000531.5(OTC): c.421C> T (p.Arg141Ter)SNVPathogenicrs67960011GRCh37Chr X, 38260562: 38260562
4OTCNM_000531.5(OTC): c.332T> C (p.Leu111Pro)SNVPathogenicrs1800324GRCh37Chr X, 38240628: 38240628
5OTCNM_000531.5(OTC): c.646C> G (p.Gln216Glu)SNVPathogenicrs72558423GRCh37Chr X, 38262976: 38262976
6OTCNM_000531.5(OTC): c.460G> T (p.Glu154Ter)SNVPathogenicrs72556267GRCh37Chr X, 38260601: 38260601
7OTCNM_000531.5(OTC): c.134T> C (p.Leu45Pro)SNVPathogenicrs72554312GRCh37Chr X, 38226600: 38226600
8OTCNM_000531.5(OTC): c.77G> A (p.Arg26Gln)SNVPathogenicrs68031618GRCh37Chr X, 38212026: 38212026
9OTCOTC, ARG245TRPundetermined variantPathogenicChr na, -1: -1
10OTCNM_000531.5(OTC): c.717+2T> CSNVPathogenicrs72558431GRCh37Chr X, 38268050: 38268050
11OTCOTC, GTA-GTG, INTRON 7undetermined variantPathogenicChr na, -1: -1
12OTCNM_000531.5(OTC): c.387-2A> TSNVPathogenicrs66556380GRCh37Chr X, 38260526: 38260526
13OTCNM_000531.5(OTC): c.829C> T (p.Arg277Trp)SNVPathogenicrs72558454GRCh37Chr X, 38268240: 38268240
14OTCNM_000531.5(OTC): c.674C> T (p.Pro225Leu)SNVLikely pathogenic, Pathogenicrs67120076GRCh37Chr X, 38268005: 38268005
15OTCNM_000531.5(OTC): c.259G> A (p.Glu87Lys)SNVPathogenicrs72554338GRCh37Chr X, 38229091: 38229091
16OTCNM_000531.5(OTC): c.148G> T (p.Gly50Ter)SNVPathogenicrs67486158GRCh37Chr X, 38226614: 38226614
17OTCNM_000531.5(OTC): c.484G> A (p.Gly162Arg)SNVPathogenicrs66626662GRCh37Chr X, 38260625: 38260625
18OTCOTC, 1-BP DEL, 403GdeletionPathogenicChr na, -1: -1
19OTCOTC, IVS2, G-A, -1SNVPathogenicChr na, -1: -1
20OTCNM_000531.5(OTC): c.236G> A (p.Gly79Glu)SNVPathogenicrs72554331GRCh37Chr X, 38229068: 38229068
21OTCNM_000531.5(OTC): c.281G> C (p.Arg94Thr)SNVPathogenicrs72554345GRCh37Chr X, 38229113: 38229113
22OTCNM_000531.5(OTC): c.912G> T (p.Leu304Phe)SNVPathogenicrs72558465GRCh37Chr X, 38271159: 38271159
23OTCNM_000531.5(OTC): c.1033T> G (p.Tyr345Asp)SNVPathogenicrs66469337GRCh37Chr X, 38280303: 38280303
24OTCNM_000531.5(OTC): c.386G> A (p.Arg129His)SNVPathogenicrs66656800GRCh37Chr X, 38240682: 38240682
25OTCNM_000531.5(OTC): c.444G> C (p.Leu148Phe)SNVPathogenicrs66741318GRCh37Chr X, 38260585: 38260585
26OTCNM_000531.5(OTC): c.617T> G (p.Met206Arg)SNVPathogenicrs72558412GRCh37Chr X, 38262947: 38262947
27OTCNM_000531.5(OTC): c.118C> T (p.Arg40Cys)SNVPathogenicrs72554307GRCh37Chr X, 38226584: 38226584
28OTCNM_000531.5(OTC): c.119G> A (p.Arg40His)SNVPathogenicrs72554308GRCh37Chr X, 38226585: 38226585
29OTCNM_000531.5(OTC): c.72_77+18deldeletionPathogenicrs863225061GRCh37Chr X, 38212021: 38212044
30OTCNM_000531.5(OTC): c.254T> C (p.Ile85Thr)SNVLikely pathogenicrs878853245GRCh37Chr X, 38229086: 38229086
31OTCNM_000531.5(OTC): c.238A> G (p.Lys80Glu)SNVPathogenicrs72554332GRCh37Chr X, 38229070: 38229070
32OTCNM_000531.5(OTC): c.540+2T> CSNVPathogenicrs67367843GRCh37Chr X, 38260683: 38260683
33OTCNM_000531.5(OTC): c.140A> C (p.Asn47Thr)SNVPathogenicrs67939655GRCh37Chr X, 38226606: 38226606

Copy number variations for Ornithine Transcarbamylase Deficiency from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1262149X3150000037500000Copy numberOTCOrnithine transcarbamylase deficiency

Expression for genes affiliated with Ornithine Transcarbamylase Deficiency

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Search GEO for disease gene expression data for Ornithine Transcarbamylase Deficiency.

Pathways for genes affiliated with Ornithine Transcarbamylase Deficiency

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GO Terms for genes affiliated with Ornithine Transcarbamylase Deficiency

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Biological processes related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1anion homeostasisGO:005508110.4CPS1, OTC
2citrulline biosynthetic processGO:001924010.4CPS1, OTC
3arginine biosynthetic process via ornithineGO:004245010.3ASL, OTC
4cellular response to cAMPGO:007132010.2ASS1, CPS1
5cellular response to glucagon stimulusGO:007137710.2ASS1, CPS1
6cellular response to oleic acidGO:007140010.2ASS1, CPS1
7response to amineGO:001407510.2ASS1, CPS1
8response to amino acidGO:004320010.2ASS1, CPS1
9response to glucocorticoidGO:005138410.2ASS1, CPS1
10response to growth hormoneGO:006041610.2ASS1, CPS1
11response to steroid hormoneGO:004854510.1ASS1, CPS1
12response to toxic substanceGO:000963610.0ASS1, CPS1
13liver developmentGO:00018899.9ASS1, CPS1, OTC
14midgut developmentGO:00074949.8ASS1, CPS1, OTC
15arginine biosynthetic processGO:00065269.8ASL, ASS1, CPS1
16response to nutrientGO:00075849.7ASS1, CYBB
17response to zinc ionGO:00100439.4ASS1, CPS1, OTC
18response to drugGO:00424939.0ASS1, CPS1, CYBB, OTC
19urea cycleGO:00000508.7ASL, ASS1, CPS1, OTC

Molecular functions related to Ornithine Transcarbamylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:001659710.1ASS1, OTC
2phospholipid bindingGO:00055439.7CPS1, OTC
3flavin adenine dinucleotide bindingGO:00506609.6CYBB, DPYD

Sources for Ornithine Transcarbamylase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet