OTCD
MCID: ORN003
MIFTS: 69

Ornithine Carbamoyltransferase Deficiency (OTCD) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Ornithine Carbamoyltransferase Deficiency

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Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. mutations in the otc gene cause otc deficiency. otc deficiency is an x-linked disorder. last updated: 6/3/2011

MalaCards: Ornithine Carbamoyltransferase Deficiency, also known as ornithine transcarbamylase deficiency, is related to argininosuccinic aciduria and muscular dystrophy, and has symptoms including aminoacid metabolism anomalies/aminoaciduria, hyperammonemia and hypoglycemia. An important gene associated with Ornithine Carbamoyltransferase Deficiency is OTC (ornithine carbamoyltransferase), and among its related pathways are Alanine and aspartate metabolism and glutamine degradation I. The compounds delta(1)pyrroline-5-carboxylate and argininosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

Disease Ontology:8 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Genetics Home Reference:21 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.

Wikipedia:63 Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle... more...

Description from OMIM:46 311250

GeneReviews summary for otc-def

Aliases & Classifications for Ornithine Carbamoyltransferase Deficiency

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 22GTR, 10DISEASES, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 9diseasecard, 21Genetics Home Reference, 46OMIM, 44Novoseek, 20GeneTests, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
ornithine carbamoyltransferase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

ornithine carbamoyltransferase deficiency 8 19 42 22 10 48 30 60
ornithine transcarbamylase deficiency 8 9 19 42 21 46 44 48
ornithine carbamoyltransferase deficiency disease 21 44
ornithine transcarbamylase 9 20
otc deficiency 19 42
deficiency of citrulline phosphorylase 8
oct deficiency 48
otc deficency 48
otcd 42


External Ids:

Disease Ontology8 DOID:9271
MeSH34 D020163
OMIM46 311250
SNOMED-CT56 80908008, 124249000
MESH via Orphanet35 D020163
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet57 80908008
UMLS via Orphanet61 C0268542

Related Diseases for Ornithine Carbamoyltransferase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ornithine Carbamoyltransferase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1argininosuccinic aciduria30.3ASL, OTC
2muscular dystrophy30.3OTC, XK
3carbamoyl phosphate synthetase i deficiency disease30.3OTC, CPS1
4chronic granulomatous disease30.3XK, RPGR, OTC
5urea cycle disorder30.3ASL, ASS1
6duchenne muscular dystrophy30.3XK, RPGR, OTC
7hyperargininemia30.3OTC, ASS1, ASL
8hyperlysinemia30.2OTC
9propionic acidemia30.2UPB1, HMGCL, OTC, ASS1
10cerebritis10.5
11acrodermatitis10.4
12acrodermatitis enteropathica10.4
13alzheimer's disease10.3
14attention deficit hyperactivity disorder10.3
15acute pancreatitis10.3
16alkaptonuria10.3
17hepatitis10.3
18neuroblastoma10.3
19pancreatitis10.3
20acute liver failure10.2
21status epilepticus10.2
22hepatitis c10.2
23brain edema10.2
24hypertensive encephalopathy10.2
25retinitis pigmentosa10.2
26congenital adrenal hyperplasia10.2
27type 1 diabetes mellitus10.2
28adenosine deaminase deficiency10.2
29adult syndrome10.2
30chromosomal disease10.2
31diabetes mellitus10.2
32encephalomalacia10.2
33hypertension10.2
34influenza10.2
35intracranial hypertension10.2
36retinal disease10.2
37retinitis10.2
38x-linked disease10.2
39hepatoblastoma10.2
40myeloma10.2
41multiple carboxylase deficiency10.0OTC
42reye syndrome10.0OTC, HMGCL
43methylmalonic acidemia10.0OTC, HMGCL
44maple syrup urine disease10.0OTC, HMGCL
45rhyns syndrome10.0OTC, DYNLT3, RPGR
46homocystinuria10.0OTC, HMGCL
47orotic aciduria10.0OTC, ASS1, ASL
48citrullinemia10.0OTC, ASS1, ASL
49lysinuric protein intolerance10.0ASL, ASS1, OTC
50metabolic syndrome x10.0OTC, ASS1, CPS1

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



Diseases related to ornithine carbamoyltransferase deficiency

Clinical Features for Ornithine Carbamoyltransferase Deficiency

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

311250

Clinical synopsis from OMIM:

311250

Symptoms:

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

Drugs & Therapeutics for Ornithine Carbamoyltransferase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Ornithine Carbamoyltransferase Deficiency

Drug clinical trials:

Search ClinicalTrials for Ornithine Carbamoyltransferase Deficiency

Search NIH Clinical Center for Ornithine Carbamoyltransferase Deficiency

Search CenterWatch for Ornithine Carbamoyltransferase Deficiency

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Ornithine Carbamoyltransferase Deficiency:
Hepatocyte transplantation for treatment of liver disorders
Promethera
Embryonic/Adult Cultured Cells Related to Ornithine Carbamoyltransferase Deficiency:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053

Genetic Tests for Ornithine Carbamoyltransferase Deficiency

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20GeneTests, 22GTR
See all sources

Genetic tests related to Ornithine Carbamoyltransferase Deficiency:

id Genetic test Affiliating Genes
1 Ornithine Transcarbamylase Deficiency20 OTC
2 Ornithine Carbamoyltransferase Deficiency22

Anatomical Context for Ornithine Carbamoyltransferase Deficiency

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Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

MalaCards organs/tissues related to Ornithine Carbamoyltransferase Deficiency:

32
Liver, Testes, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Animal Models for Ornithine Carbamoyltransferase Deficiency or affiliated genes

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Publications for Ornithine Carbamoyltransferase Deficiency

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Sources:
50PubMed
See all sources

Articles related to Ornithine Carbamoyltransferase Deficiency:

(show all 40)
idTitleAuthorsYear
1
A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder. (24199608)
2013
2
Late-onset ornithine carbamoyltransferase deficiency accompanying acute pancreatitis and hyperammonemia. (24073003)
2013
3
Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency. (24142276)
2013
4
Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry. (23085206)
2013
5
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. (22563224)
2012
6
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. (23278509)
2012
7
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. (20127982)
2010
8
Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman. (16435206)
2005
9
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. (12974280)
2003
10
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency. (12974275)
2003
11
Neurological outcome of patients with ornithine carbamoyltransferase deficiency. (11806886)
2002
12
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals. (11432394)
2001
13
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. (11596657)
2001
14
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. (11286382)
2001
15
Ornithine carbamoyltransferase deficiency. (11124797)
2001
16
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia. (11804205)
2001
17
Ornithine carbamoyltransferase deficiency presenting with chorea in a female. (11196111)
2000
18
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. (11117428)
2000
19
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants. (11117427)
2000
20
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (10070622)
1999
21
Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency. (10388475)
1999
22
Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation. (10399103)
1999
23
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. (9501271)
1998
24
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. (9266354)
1997
25
The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. (8750014)
1995
26
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency. (7474892)
1995
27
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. (8777776)
1995
28
Sudden onset of ornithine carbamoyltransferase deficiency after aspirin ingestion. (8295421)
1993
29
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency. (1779634)
1991
30
Ornithine carbamoyltransferase deficiency with subnormal enzyme activity. (1779638)
1991
31
Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase. (2372929)
1990
32
Rett's syndrome and ornithine carbamoyltransferase deficiency. (2122091)
1990
33
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity. (2612006)
1989
34
False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity. (2795358)
1989
35
Rett's syndrome and ornithine carbamoyltransferase deficiency. (2890926)
1987
36
Effect of partial ornithine carbamoyltransferase deficiency on urea synthesis and related biochemical events. (3816076)
1987
37
Valproate toxicity and ornithine carbamoyltransferase deficiency. (2878165)
1986
38
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency. (6441862)
1984
39
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. (6823424)
1983
40
Ornithine carbamoyltransferase deficiency: coexistence of active and inactive forms of enzyme. (7389139)
1980

Genetic Variations for Ornithine Carbamoyltransferase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ornithine Carbamoyltransferase Deficiency:

62 (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_004874
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

Expression for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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

Pathways for genes affiliated with Ornithine Carbamoyltransferase Deficiency

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1delta(1)pyrroline-5-carboxylate449.9ASS1, OTC
2argininosuccinic acid44 2410.9ASS1, ASL
3l-citrulline28 1110.8ASS1, OTC
4guanidinoacetate449.8ASL, ASS1
5malate449.8ASL, OTC
6carbamate449.8OTC, CPS1
7l-arginine28 11 2411.7ASL, ASS1
8ammonium449.6ASL, ASS1, OTC
9n-acetylglutamate449.5OTC, ASL, CPS1
10pyrimidine44 2410.5CPS1, OTC, UPB1
11phosphoenolpyruvate44 1110.4ASS1, OTC
12glutamine449.2CPS1, ASL, OTC
13sodium benzoate49 210.0OTC, ASS1, ASL, CPS1
14phenylacetic acid49 44 2411.0CPS1, ASL, ASS1, OTC
15carbamoyl phosphate449.0OTC, ASS1, ASL, CPS1
16citrulline44 2410.0CPS1, ASL, ASS1, OTC
17urea44 11 2411.0CPS1, ASL, ASS1, OTC
18glutamate448.9RPGR, OTC, ASS1, ASL
19arginine448.8OTC, ASS1, ASL, CPS1
20atp44 289.4OTC, SEC14L2, ASS1, CPS1
21ornithine44 248.7CPS1, ASL, ASS1, OTC, DYNLT3, RPGR

GO Terms for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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Sources:
16Gene Ontology
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Cellular components related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.1CPS1, OTC, HMGCL
2mitochondrial matrixGO:0057598.8CPS1, OTC, HMGCL

Biological processes related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.8ASS1, OTC
2liver developmentGO:0018899.8OTC, HMGCL
3anion homeostasisGO:0550819.8CPS1, OTC
4citrulline biosynthetic processGO:0192409.7CPS1, OTC
5midgut developmentGO:0074949.6CPS1, OTC
6response to zinc ionGO:0100439.5OTC, CPS1
7response to starvationGO:0425949.1CPS1, HMGCL
8urea cycleGO:0000508.9CPS1, ASL, ASS1, OTC
9cellular nitrogen compound metabolic processGO:0346418.8OTC, ASS1, ASL, CPS1
10small molecule metabolic processGO:0442818.0UPB1, HMGCL, OTC, ASS1, ASL, CPS1

Molecular functions related to Ornithine Carbamoyltransferase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.0CPS1, SEC14L2, OTC

Products for genes affiliated with Ornithine Carbamoyltransferase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ornithine Carbamoyltransferase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet