MCID: ORN006
MIFTS: 60

Ornithine Transcarbamylase Deficiency malady

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

Aliases & Classifications for Ornithine Transcarbamylase Deficiency

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 32LifeMap Discovery®, 12DISEASES, 65UMLS, 36MeSH, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ornithine Transcarbamylase Deficiency:

Name: Ornithine Transcarbamylase Deficiency 49 10 11 21 45 22 23 47 51 67 32
Ornithine Carbamoyltransferase Deficiency 32 10 21 45 22 12 51 67 65
Otc Deficiency 21 45 22 51 67
Ornithine Carbamoyltransferase Deficiency Disease 23 47 36 24
Otcd 45 67
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 67
 
Hyperammonemia Due to Ornithine Transcarbamylase Deficiency 22
Ornithine Carbamoyl Transferase Deficiency 22
Deficiency of Citrulline Phosphorylase 10
Ornithine Transcarbamylase 11
Oct Deficiency 51

Characteristics:

Orphanet epidemiological data:

51
ornithine transcarbamylase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Finland),1-9/100000 (United States); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
ornithine transcarbamylase deficiency:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 311250
Disease Ontology10 DOID:9271
ICD1027 E72.4
NCIt42 C84957
SNOMED-CT59 124249000, 80908008
Orphanet51 664
ICD10 via Orphanet28 E72.4
MESH via Orphanet37 D020163
UMLS via Orphanet66 C0268542
UMLS65 C0268542

Summaries for Ornithine Transcarbamylase Deficiency

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UniProtKB/Swiss-Prot:67 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 carbamoylphosphate synthetase i deficiency and argininemia, and has symptoms including aminoaciduria, pyloric stenosis and hyperammonemia. 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, testes and brain.

Disease Ontology:10 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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

OMIM:49 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

Wikipedia:68 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

GeneReviews summary 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 for Ornithine Transcarbamylase Deficiency

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Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Symptoms:

 51 (show all 7)
  • gastric/pyloric stenosis
  • hepatocellular liver disease/hepatic failure
  • storage liver disease
  • splenomegaly
  • hypoglycemia
  • hyperammonemia
  • aminoacid metabolism anomalies/aminoaciduria

HPO human phenotypes related to Ornithine Transcarbamylase Deficiency:

(show all 23)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 pyloric stenosis hallmark (90%) HP:0002021
3 hyperammonemia hallmark (90%) HP:0001987
4 hypoglycemia hallmark (90%) HP:0001943
5 splenomegaly hallmark (90%) HP:0001744
6 hepatic failure hallmark (90%) HP:0001399
7 stroke rare (5%) HP:0001297
8 low plasma citrulline HP:0003572
9 hyperglutaminemia HP:0003217
10 cerebral edema HP:0002181
11 episodic ataxia HP:0002131
12 protein avoidance HP:0002038
13 vomiting HP:0002013
14 hyperammonemia HP:0001987
15 episodic ammonia intoxication HP:0001951
16 respiratory alkalosis HP:0001950
17 failure to thrive HP:0001508
18 global developmental delay HP:0001263
19 coma HP:0001259
20 lethargy HP:0001254
21 seizures HP:0001250
22 intellectual disability HP:0001249
23 irritability HP:0000737

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency

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

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`
2
Ornithineapproved, nutraceuticalPhase 2, Phase 16370-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
3Liver ExtractsPhase 2, Phase 13572
4Glutamic AcidNutraceuticalPhase 2201
5Vaccines6085

Interventional clinical trials:

(show all 12)
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
4Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaRecruitingNCT01599286Phase 2
5Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
6Study of Treatment and Metabolism in Patients With Urea Cycle DisordersRecruitingNCT00004307Phase 1
7Hepatocyte Transplantation for Liver Based Metabolic DisordersSuspendedNCT01345578Phase 1
8Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004498Phase 1
9Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase DeficiencyTerminatedNCT00004386Phase 1
10Neurologic Injuries in Adults With Urea Cycle DisordersCompletedNCT00472732
11Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRITerminatedNCT01569568
12The 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 Transcarbamylase Deficiency22 OTC

Anatomical Context for Ornithine Transcarbamylase Deficiency

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MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

33
Liver, Testes, Brain, Bone, T cells, Endothelial, Breast

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

Animal Models for Ornithine Transcarbamylase Deficiency or affiliated genes

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Publications for Ornithine Transcarbamylase Deficiency

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Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Acute onset of Guillain-BarrAc Syndrome following elective spinal surgery. (25836269)
2015
2
Urinary interleukin-8 is a biomarker of stress in emergency physicians, especially with advancing age--the JOBSTRESS* randomized trial. (23977105)
2013
3
Genotypic characterization of enterotoxigenic Escherichia coli strains causing traveler's diarrhea. (23224092)
2013
4
Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. (23232549)
2013
5
The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair polymorphisms in individual susceptibility to well-differentiated thyroid cancer. (23982724)
2013
6
Performance of orthopantomography, planar scintigraphy, CT alone and SPECT/CT in patients with suspected osteomyelitis of the jaw. (23151914)
2013
7
Increased periostin gene expression in degenerative intervertebral disc cells. (23453657)
2013
8
Recurrent shock and pulmonary edema due to acetazolamide medication after cataract surgery. (24388201)
2013
9
Genome Sequences of the Guillain-Barre Syndrome Outbreak-Associated Campylobacter jejuni Strains ICDCCJ07002 and ICDCCJ07004. (23704181)
2013
10
Role of plasma exchange in autoimmune hyperthyroidism complicated by severe tiamazol-induced cholestatic jaundice. (23756266)
2013
11
Downregulation of the small GTPase ras-related nuclear protein accelerates cellular ageing. (23160023)
2013
12
Iliac branched device implantation in tortuous iliac anatomy after previous open ruptured aortic aneurysm repair. (21769082)
2012
13
Stanniocalcin 2, forms a complex with heme oxygenase 1, binds hemin and is a heat shock protein. (22503972)
2012
14
Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET. (21079950)
2011
15
Bexarotene activates the p53/p73 pathway in human cutaneous T-cell lymphoma. (19067706)
2009
16
Pharmacotherapies to manage bone loss-associated diseases: a quest for the perfect benefit-to-risk ratio. (18288984)
2008
17
Biochemical markers of bone turnover associated with calcium supplementation in children with juvenile rheumatoid arthritis: results of a double-blind, placebo-controlled intervention trial. (19035501)
2008
18
Proteomic investigation of taxol and taxotere resistance and invasiveness in a squamous lung carcinoma cell line. (18503785)
2008
19
High frequency of RASSF1A and RARb2 gene promoter methylation in morphologically normal endometrium adjacent to endometrioid adenocarcinoma. (18783461)
2008
20
Thrombotic occlusion of Blalock-Taussig shunt in a patient with unnoticed protein C deficiency. (19002753)
2008
21
Myelodysplasia and Good syndrome. A case report. (18791691)
2008
22
Mitogenic growth signalling, DNA replication licensing, and survival are linked in prostate cancer. (17406359)
2007
23
DNA damage response as an anti-cancer barrier: damage threshold and the concept of 'conditional haploinsufficiency'. (17700066)
2007
24
Cost-benefit analysis of G6PD screening in Lebanese newborn males. (17966732)
2007
25
Association of 11q loss, trisomy 12, and possible 16q loss with loss of imprinting of insulin-like growth factor-II in Wilms tumor. (16518847)
2006
26
Plasma lipids and blood viscosity in patients with cerebrovascular disease. (16899921)
2006
27
Analysis of SMAD4/DPC4 gene alterations in multiploid colorectal carcinomas. (16082587)
2005
28
Safety and efficacy of vardenafil, a selective phosphodiesterase 5 inhibitor, in patients with erectile dysfunction and arterial hypertension treated with multiple antihypertensives. (16422810)
2005
29
ATP activates ataxia-telangiectasia mutated (ATM) in vitro. Importance of autophosphorylation. (12645530)
2003
30
Signaling from cAMP/PKA to MAPK and synaptic plasticity. (12668903)
2003
31
Effects of bacterial cell wall components (PAMPs) on the expression of monocyte chemoattractant protein-1 (MCP-1), macrophage inflammatory protein-1alpha (MIP-1alpha) and the chemokine receptor CCR2 by purified human blood monocytes. (14733721)
2003
32
Interaction of hepatitis C virus core protein with retinoid X receptor alpha modulates its transcriptional activity. (11915042)
2002
33
Presenilin-interacting proteins. (14585160)
2002
34
Bcl-2, Bcl-x, and Bax expression by immunohistochemistry in inclusion body myositis: a study of 27 cases. (11570908)
2001
35
Umbilical vein interleukin 6 and tumor necrosis factor alpha plasma concentrations in the very preterm infant. (10749467)
2000
36
Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. (10821832)
2000
37
Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. (10084559)
1999
38
Neuropilin-1 is expressed on bone marrow stromal cells: a novel interaction with hematopoietic cells? (10498602)
1999
39
Non-alcoholic fatty liver: another feature of the metabolic syndrome? (10634920)
1999
40
Prediction of response to treatment with recombinant human erythropoietin in anaemia associated with cancer. (9785336)
1998
41
Functional characterization of the hepatic sodium-dependent taurocholate transporter stably transfected into an immortalized liver-derived cell line and V79 fibroblasts. (8738419)
1996
42
The direct effect of injectable cyclosporine and its vehicle, cremophor, on endothelial vascular cell adhesion molecule-1 expression. Ricinoleic acid inhibits coronary artery endothelial activation. (7544037)
1995
43
p53 Status predicts survival in breast cancer patients treated with or without postoperative radiotherapy: a novel hypothesis based on clinical findings. (7595733)
1995
44
Gastric intramucosal acidosis in patients with chronic kidney failure. (8488469)
1993
45
The leukocyte surface antigens CD11b and CD18 mediate the oxidative burst activation of human peritoneal macrophages induced by type 1 fimbriated Escherichia coli. (8103073)
1993
46
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders. (1861458)
1991
47
Superior mesenteric artery syndrome following ileal J-pouch anal anastomosis. An iatrogenic cause of early postoperative obstruction. (3595368)
1987
48
Hereditary protein C deficiency during pregnancy. (3688069)
1987
49
Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. (215360)
1979
50

Variations for Ornithine Transcarbamylase Deficiency

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

67 (show all 111)
id Symbol AA change Variation ID SNP ID
1OTCp.Arg26GlnVAR_004843
2OTCp.Gly39CysVAR_004844
3OTCp.Arg40CysVAR_004845
4OTCp.Arg40HisVAR_004846
5OTCp.Thr44IleVAR_004848
6OTCp.Leu45ProVAR_004849
7OTCp.Leu45ValVAR_004850
8OTCp.Asn47IleVAR_004852
9OTCp.Gly50ArgVAR_004853
10OTCp.Tyr55AspVAR_004854
11OTCp.Met56ThrVAR_004855
12OTCp.Ser60LeuVAR_004856
13OTCp.Leu63ProVAR_004857
14OTCp.Gly79GluVAR_004858
15OTCp.Gly83AspVAR_004860
16OTCp.Gly83ArgVAR_004861
17OTCp.Glu87LysVAR_004862
18OTCp.Lys88AsnVAR_004863
19OTCp.Ser90ArgVAR_004864
20OTCp.Arg92GlnVAR_004865
21OTCp.Thr93AlaVAR_004866
22OTCp.Arg94ThrVAR_004867
23OTCp.Gly100AspVAR_004868
24OTCp.Ala102GluVAR_004870
25OTCp.His117LeuVAR_004872
26OTCp.His117ArgVAR_004873
27OTCp.Thr125MetVAR_004874rs72554356
28OTCp.Asp126GlyVAR_004875
29OTCp.Arg129HisVAR_004876
30OTCp.Leu139SerVAR_004877
31OTCp.Arg141ProVAR_004878
32OTCp.Arg141GlnVAR_004879
33OTCp.Leu148PheVAR_004880
34OTCp.Ile159ThrVAR_004881
35OTCp.Asn161SerVAR_004882
36OTCp.Gly162ArgVAR_004883
37OTCp.His168GlnVAR_004884
38OTCp.His168ArgVAR_004885
39OTCp.Ile172MetVAR_004886
40OTCp.Ala174ProVAR_004887
41OTCp.Asp175ValVAR_004888
42OTCp.Tyr176CysVAR_004889
43OTCp.Thr178MetVAR_004890
44OTCp.Gln180HisVAR_004892
45OTCp.Glu181GlyVAR_004893
46OTCp.His182LeuVAR_004894
47OTCp.Tyr183CysVAR_004895
48OTCp.Tyr183AspVAR_004896
49OTCp.Gly188ArgVAR_004897
50OTCp.Ser192ArgVAR_004898
51OTCp.Gly195ArgVAR_004899
52OTCp.Asp196ValVAR_004900
53OTCp.Asp196TyrVAR_004901
54OTCp.Gly197GluVAR_004902
55OTCp.Leu201ProVAR_004903
56OTCp.His202TyrVAR_004904
57OTCp.Ser203CysVAR_004905
58OTCp.Met206ArgVAR_004906
59OTCp.Ser207ArgVAR_004907
60OTCp.Ala208ThrVAR_004908
61OTCp.Ala209ValVAR_004909
62OTCp.Met213LysVAR_004910
63OTCp.Gln216GluVAR_004911
64OTCp.Pro220AlaVAR_004912
65OTCp.Pro225LeuVAR_004913
66OTCp.Pro225ArgVAR_004914
67OTCp.Pro225ThrVAR_004915
68OTCp.Thr242IleVAR_004916
69OTCp.Leu244GlnVAR_004917
70OTCp.Thr247LysVAR_004918
71OTCp.His255ProVAR_004919
72OTCp.Asp263GlyVAR_004920
73OTCp.Asp263AsnVAR_004921
74OTCp.Thr264AlaVAR_004922
75OTCp.Thr264IleVAR_004923
76OTCp.Ser267ArgVAR_004924
77OTCp.Met268ThrVAR_004925
78OTCp.Gly269GluVAR_004926
79OTCp.Arg277GlnVAR_004929
80OTCp.Arg277TrpVAR_004930
81OTCp.His302LeuVAR_004931
82OTCp.His302GlnVAR_004932
83OTCp.His302TyrVAR_004933
84OTCp.Cys303ArgVAR_004934
85OTCp.Cys303TyrVAR_004935
86OTCp.Leu304PheVAR_004936
87OTCp.Arg320LeuVAR_004938
88OTCp.Arg330GlyVAR_004939
89OTCp.Ala336SerVAR_004940
90OTCp.Val337LeuVAR_004941
91OTCp.Val339LeuVAR_004942
92OTCp.Ser340ProVAR_004943
93OTCp.Thr343LysVAR_004944
94OTCp.Tyr345CysVAR_004946
95OTCp.Tyr345AspVAR_004947
96OTCp.Phe354CysVAR_004948
97OTCp.Ile172PheVAR_009233
98OTCp.Gly188ValVAR_009234
99OTCp.Gly197ArgVAR_009235
100OTCp.Ala140ProVAR_010605
101OTCp.Asn198LysVAR_010606
102OTCp.His214TyrVAR_010607
103OTCp.Thr262LysVAR_010608
104OTCp.Trp265LeuVAR_010609
105OTCp.Glu326LysVAR_010610
106OTCp.Ile160SerVAR_012651
107OTCp.Leu191PheVAR_012652
108OTCp.Met206IleVAR_012653
109OTCp.Leu301PheVAR_012654
110OTCp.Pro305HisVAR_012655
111OTCp.Leu341ProVAR_012657

Clinvar genetic disease variations for Ornithine Transcarbamylase Deficiency:

5 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1OTCOTC, DELdeletionPathogenic
2OTCNM_000531.5(OTC): c.422G> A (p.Arg141Gln)single nucleotide variantPathogenicrs68026851GRCh37Chr X, 38260563: 38260563
3OTCNM_000531.5(OTC): c.421C> T (p.Arg141Ter)single nucleotide variantPathogenicrs67960011GRCh37Chr X, 38260562: 38260562
4OTCNM_000531.5(OTC): c.332T> C (p.Leu111Pro)single nucleotide variantPathogenicrs1800324GRCh37Chr X, 38240628: 38240628
5OTCNM_000531.5(OTC): c.646C> G (p.Gln216Glu)single nucleotide variantPathogenicrs72558423GRCh37Chr X, 38262976: 38262976
6OTCNM_000531.5(OTC): c.460G> T (p.Glu154Ter)single nucleotide variantPathogenicrs72556267GRCh37Chr X, 38260601: 38260601
7OTCNM_000531.5(OTC): c.134T> C (p.Leu45Pro)single nucleotide variantPathogenicrs72554312GRCh37Chr X, 38226600: 38226600
8OTCNM_000531.5(OTC): c.77G> A (p.Arg26Gln)single nucleotide variantPathogenicrs68031618GRCh37Chr X, 38212026: 38212026
9OTCOTC, ARG245TRPundetermined variantPathogenic
10OTCNM_000531.5(OTC): c.717+2T> Csingle nucleotide variantPathogenicrs72558431GRCh37Chr X, 38268050: 38268050
11OTCOTC, GTA-GTG, INTRON 7undetermined variantPathogenic
12OTCNM_000531.5(OTC): c.387-2A> Tsingle nucleotide variantPathogenicrs66556380GRCh37Chr X, 38260526: 38260526
13OTCNM_000531.5(OTC): c.829C> T (p.Arg277Trp)single nucleotide variantPathogenicrs72558454GRCh37Chr X, 38268240: 38268240
14OTCNM_000531.5(OTC): c.674C> T (p.Pro225Leu)single nucleotide variantPathogenicrs67120076GRCh37Chr X, 38268005: 38268005
15OTCNM_000531.5(OTC): c.259G> A (p.Glu87Lys)single nucleotide variantPathogenicrs72554338GRCh37Chr X, 38229091: 38229091
16OTCNM_000531.5(OTC): c.148G> T (p.Gly50Ter)single nucleotide variantPathogenicrs67486158GRCh37Chr X, 38226614: 38226614
17OTCNM_000531.5(OTC): c.484G> A (p.Gly162Arg)single nucleotide variantPathogenicrs66626662GRCh37Chr X, 38260625: 38260625
18OTCOTC, 1-BP DEL, 403GdeletionPathogenic
19OTCOTC, IVS2, G-A, -1single nucleotide variantPathogenic
20OTCNM_000531.5(OTC): c.236G> A (p.Gly79Glu)single nucleotide variantPathogenicrs72554331GRCh37Chr X, 38229068: 38229068
21OTCNM_000531.5(OTC): c.281G> C (p.Arg94Thr)single nucleotide variantPathogenicrs72554345GRCh37Chr X, 38229113: 38229113
22OTCNM_000531.5(OTC): c.912G> T (p.Leu304Phe)single nucleotide variantPathogenicrs72558465GRCh37Chr X, 38271159: 38271159
23OTCNM_000531.5(OTC): c.1033T> G (p.Tyr345Asp)single nucleotide variantPathogenicrs66469337GRCh37Chr X, 38280303: 38280303
24OTCNM_000531.5(OTC): c.386G> A (p.Arg129His)single nucleotide variantPathogenicrs66656800GRCh37Chr X, 38240682: 38240682
25OTCNM_000531.5(OTC): c.444G> C (p.Leu148Phe)single nucleotide variantPathogenicrs66741318GRCh37Chr X, 38260585: 38260585
26OTCNM_000531.5(OTC): c.617T> G (p.Met206Arg)single nucleotide variantPathogenicrs72558412GRCh37Chr X, 38262947: 38262947
27OTCNM_000531.5(OTC): c.118C> T (p.Arg40Cys)single nucleotide variantPathogenicrs72554307GRCh37Chr X, 38226584: 38226584
28OTCNM_000531.5(OTC): c.119G> A (p.Arg40His)single nucleotide variantPathogenicrs72554308GRCh37Chr X, 38226585: 38226585
29OTCNM_000531.5(OTC): c.72_77+18deldeletionPathogenicrs863225061GRCh37Chr X, 38212021: 38212044
30OTCNM_000531.5(OTC): c.238A> G (p.Lys80Glu)single nucleotide variantPathogenicrs72554332GRCh37Chr X, 38229070: 38229070
31OTCNM_000531.5(OTC): c.540+2T> Csingle nucleotide variantPathogenicrs67367843GRCh37Chr X, 38260683: 38260683
32OTCNM_000531.5(OTC): c.140A> C (p.Asn47Thr)single nucleotide variantPathogenicrs67939655GRCh37Chr X, 38226606: 38226606

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 9)
idNameGO IDScoreTop Affiliating Genes
1cellular response to glucagon stimulusGO:007137710.0ASS1, CPS1
2midgut developmentGO:000749410.0ASS1, CPS1
3cellular response to cAMPGO:007132010.0ASS1, CPS1
4response to amineGO:00140759.8ASS1, CPS1
5polyamine metabolic processGO:00065959.7ASL, CPS1, OTC
6response to toxic substanceGO:00096369.6ASS1, CPS1
7response to zinc ionGO:00100439.5ASS1, CPS1, OTC
8liver developmentGO:00018899.2ASS1, CPS1, OTC
9cellular nitrogen compound metabolic processGO:00346418.9ASL, ASS1, CPS1, OTC

Sources for Ornithine Transcarbamylase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet