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

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 33LifeMap Discovery®, 13DISEASES, 66UMLS, 25GTR, 37MeSH, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ornithine Transcarbamylase Deficiency:

Name: Ornithine Transcarbamylase Deficiency 50 11 22 46 23 24 52 68 12 48 33
Ornithine Carbamoyltransferase Deficiency 33 11 22 46 23 13 52 68 66
Otc Deficiency 22 46 23 52 68
Ornithine Carbamoyltransferase Deficiency Disease 24 25 48 37
Otcd 46 68
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency 68
 
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 50
Hyperammonemia Due to Ornithine Transcarbamylase Deficiency 23
Ornithine Carbamoyl Transferase Deficiency 23
Deficiency of Citrulline Phosphorylase 11
Ornithine Transcarbamylase 12
Oct Deficiency 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
ornithine transcarbamylase deficiency:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 311250
Disease Ontology11 DOID:9271
ICD1028 E72.4
NCIt43 C84957
SNOMED-CT60 124249000, 80908008
Orphanet52 ORPHA664
ICD10 via Orphanet29 E72.4
MESH via Orphanet38 D020163
UMLS via Orphanet67 C0268542

Summaries for Ornithine Transcarbamylase Deficiency

About this section
UniProtKB/Swiss-Prot:68 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 encephalopathy, 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, testes and brain.

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

NIH Rare Diseases:46 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

Genetics Home Reference:24 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:50 Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes... (311250) more...

Wikipedia:69 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

About this section

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



Diseases related to ornithine transcarbamylase deficiency

Symptoms for Ornithine Transcarbamylase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

311250

Clinical features from OMIM:

311250

Symptoms:

 52
  • hepatic failure
  • splenomegaly
  • hypoglycemia
  • hyperammonemia
  • pyloric stenosis
  • aminoaciduria

HPO human phenotypes related to Ornithine Transcarbamylase Deficiency:

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

UMLS symptoms related to Ornithine Transcarbamylase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Ornithine Transcarbamylase Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetohydroxamic AcidPhase 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
ornithineNutraceuticalPhase 2, Phase 16770-26-86262
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

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

About this section

Genetic tests related to Ornithine Transcarbamylase Deficiency:

id Genetic test Affiliating Genes
1 Ornithine Carbamoyltransferase Deficiency25
2 Ornithine Transcarbamylase Deficiency23 OTC

Anatomical Context for Ornithine Transcarbamylase Deficiency

About this section

MalaCards organs/tissues related to Ornithine Transcarbamylase Deficiency:

34
Liver, Testes, Brain

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

About this section

Publications for Ornithine Transcarbamylase Deficiency

About this section

Articles related to Ornithine Transcarbamylase Deficiency:

(show top 50)    (show all 188)
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
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. (25994866)
2015
4
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. (26067829)
2015
5
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. (25434494)
2015
6
Early intervention for late-onset ornithine transcarbamylase deficiency. (25711267)
2015
7
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. (26059767)
2015
8
Intracranial Pressure Monitoring Demonstrates that : in a Child with Ornithine Transcarbamylase Deficiency. (26427994)
2015
9
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. (25958381)
2015
10
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration. (25949836)
2015
11
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. (24881970)
2014
12
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. (24485820)
2014
13
Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency. (20422467)
2010
14
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. (19893582)
2010
15
Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. (19783189)
2010
16
Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency. (19225137)
2009
17
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. (19343772)
2009
18
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. (18262815)
2008
19
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. (17210820)
2007
20
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. (16575347)
2006
21
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. (16601886)
2006
22
Ornithine transcarbamylase deficiency in pregnancy. (15877212)
2005
23
Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. (14607061)
2003
24
Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency. (12898242)
2003
25
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. (14567964)
2003
26
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma. (12514690)
2003
27
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. (12175784)
2002
28
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. (11286510)
2001
29
Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. (11276280)
2001
30
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil. (10891562)
2000
31
Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. (11080238)
2000
32
The molecular basis of ornithine transcarbamylase deficiency. (11216899)
2000
33
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. (10064660)
1999
34
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood. (9703419)
1998
35
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. (9854602)
1998
36
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. (9686344)
1998
37
Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency. (9610619)
1998
38
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. (9143919)
1997
39
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency. (8732901)
1996
40
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. (8956038)
1996
41
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. (7860066)
1995
42
Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice. (8372069)
1993
43
Ornithine transcarbamylase deficiency presenting with strokelike episodes. (8441099)
1993
44
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. (8099056)
1993
45
Site specific screening for point mutations in ornithine transcarbamylase deficiency. (1353535)
1992
46
Gene therapy in man and mice: adenosine deaminase deficiency, ornithine transcarbamylase deficiency, and Duchenne muscular dystrophy. (1781405)
1991
47
Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion. (2208768)
1990
48
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. (2843770)
1988
49
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. (3170748)
1988
50
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. (3732588)
1986

Variations for Ornithine Transcarbamylase Deficiency

About this section

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

68 (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 33)
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 variantLikely pathogenic, Pathogenicrs67120076GRCh37Chr 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.254T> C (p.Ile85Thr)single nucleotide variantLikely pathogenicrs878853245GRCh37Chr X, 38229086: 38229086
31OTCNM_000531.5(OTC): c.238A> G (p.Lys80Glu)single nucleotide variantPathogenicrs72554332GRCh37Chr X, 38229070: 38229070
32OTCNM_000531.5(OTC): c.540+2T> Csingle nucleotide variantPathogenicrs67367843GRCh37Chr X, 38260683: 38260683
33OTCNM_000531.5(OTC): c.140A> C (p.Asn47Thr)single nucleotide variantPathogenicrs67939655GRCh37Chr X, 38226606: 38226606

Copy number variations for Ornithine Transcarbamylase Deficiency from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126214903150000037500000Copy numberOTCOrnithine transcarbamylase deficiency

Expression for genes affiliated with Ornithine Transcarbamylase Deficiency

About this section
Search GEO for disease gene expression data for Ornithine Transcarbamylase Deficiency.

Pathways for genes affiliated with Ornithine Transcarbamylase Deficiency

About this section

GO Terms for genes affiliated with Ornithine Transcarbamylase Deficiency

About this section

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:004245010.2ASL, OTC
2citrulline biosynthetic processGO:001924010.2CPS1, OTC
3anion homeostasisGO:005508110.2CPS1, OTC
4cellular response to glucagon stimulusGO:007137710.0ASS1, CPS1
5response to growth hormoneGO:006041610.0ASS1, CPS1
6response to glucocorticoidGO:005138410.0ASS1, CPS1
7response to amineGO:001407510.0ASS1, CPS1
8cellular response to oleic acidGO:00714009.9ASS1, CPS1
9cellular response to cAMPGO:00713209.8ASS1, CPS1
10response to amino acidGO:00432009.7ASS1, CPS1
11response to zinc ionGO:00100439.6ASS1, CPS1, OTC
12midgut developmentGO:00074949.6ASS1, CPS1, OTC
13arginine biosynthetic processGO:00065269.6ASL, ASS1, CPS1
14response to steroid hormoneGO:00485459.5ASS1, CPS1
15response to nutrientGO:00075849.5ASS1, CYBB
16liver developmentGO:00018899.5ASS1, CPS1, OTC
17response to toxic substanceGO:00096369.4ASS1, CPS1
18urea cycleGO:00000509.2ASL, ASS1, CPS1, OTC
19response to drugGO:00424938.0ASS1, CPS1, CYBB, OTC

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

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.8CPS1, OTC
2amino acid bindingGO:00165979.6ASS1, OTC
3flavin adenine dinucleotide bindingGO:00506608.8CYBB, DPYD

Sources for Ornithine Transcarbamylase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet