HHH SYNDROME
MCID: HYP774
MIFTS: 52

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH SYNDROME)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

MalaCards integrated aliases for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

Name: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 57 24 53 25 59 74 37 29 6
Hhh Syndrome 57 12 75 24 53 25 59 74 55 72
Ornithine Translocase Deficiency 57 12 53 25 59 15
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 57 25 13 40
Triple H Syndrome 25 59
Hhhs 57 53
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 12
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome 75
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome 25
Mitochondrial Ornithine Transporter Deficiency 24
Ornithine Translocase Deficiency Syndrome 53
Ornithine Carrier Deficiency 59
Hhh Syndrome; Hhhs; Hhh 57
Ornt1 Deficiency 59
Hhh 53

Characteristics:

Orphanet epidemiological data:

59
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Miscellaneous:
phenotypic variability
onset in first months or years of life
increased prevalence in the french-canadian population

Inheritance:
autosomal recessive


HPO:

32
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050720
OMIM 57 238970
KEGG 37 H01268
ICD10 via Orphanet 34 E72.4
UMLS via Orphanet 73 C0268540
Orphanet 59 ORPHA415
MedGen 42 C0268540
UMLS 72 C0268540

Summaries for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 415DefinitionHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.EpidemiologyMore than 100 cases have been reported in the literature to date. The prevalence in Northern Saskatchewan, Canada is especially high due to a founder effect and is estimated in this population at 1/1550 live births.Clinical descriptionAge of onset can range from the neonatal period to adulthood and a wide phenotypic spectrum is noted. The neonatal presentation usually begins a few days after birth with lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures. Onset of symptoms (ranging from mild to severe) in the majority of patients occurs in infancy, childhood and adulthood with episodes of confusion, forgetfulness, hyperammonemic coma, intellectual disability, developmental delay, spastic paraplegia, cerebellar ataxia, learning difficulties, unexplained seizures, liver dysfunction (rarely failure) and coagulopathy with factor VII-, IX- and X-deficiencies. An aversion to protein-rich foods before diagnosis is often reported.EtiologyTriple H syndrome is due to mutations in the SLC25A15 gene (13q14) encoding the mitochondrial ornithine transporter 1 (ORNT1) which plays a role in ornithine transport across the mitochondrial membrane and consecutively in mitochondrial protein synthesis, metabolism of arginine and lysine, and synthesis of polyamines. Mutations in this protein disrupt the urea cycle, resulting in hyperornithinemia, hyperammonemia and homocitrullinuria. Patients with a complete ORNT1 deficiency present in the neonatal period with severe hyperammonemia whereas those with a partial deficiency present later in infancy to adulthood.Diagnostic methodsDiagnosis is based on clinical findings and specific metabolic abnormalities. Laboratory tests usually reveal increased urinary excretion of orotic acid, homocitrulline and uracil, and a rise in the levels of plasma polyamines, ornithine, glutamine, alanine, and liver transaminases. Plasma ammonia levels are elevated episodically or postprandially and plasma ornithine is chronically elevated and is a hallmark of the disease. Molecular genetic testing confirms diagnosis.Differential diagnosisDifferential diagnosis includes other urea cycle disorders as well as lysinuric protein intolerance (see these terms). Hyperinsulinism-hyperammonemia syndrome, pyruvate carboxylase deficiency (see these terms) and secondary causes of hyperammonemia should also be considered.Antenatal diagnosisPrenatal diagnosis is possible in families with a known disease causing mutation on both alleles.Genetic counselingTriple H syndrome is inherited autosomal recessively and genetic counseling is advised.Management and treatmentTreatment involves the adherence to a low protein diet along with citrulline or arginine supplementation. In resistant cases, sodium benzoate and phenylbutyrate may be necessary for control of plasma ammonia levels. Patients should be monitored during times of stress (e.g. pregnancy, surgery, intercurrent infections) and when taking certain medications (i.e. corticosteroids) as they can trigger an episode of hyperammonemia. Hyperammonemic coma is treated in a tertiary care center where plasma ammonia levels must be lowered (by hemodialysis or hemofiltration), ammonia scavenger therapy implemented, catabolism reversed (with glucose and lipid infusions) and special care taken to reduce the risk of neurological damage.PrognosisWith early diagnosis and proper adherence to treatment protocol the prognosis is better than for most other urea cycle defects. However, patients remain at risk for metabolic decompensation throughout life and irreversible neurological complications can occur if treatment is delayed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome, also known as hhh syndrome, is related to carbonic anhydrase va deficiency, hyperammonemia due to and gyrate atrophy of choroid and retina, and has symptoms including seizures, clonus and lethargy. An important gene associated with Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome is SLC25A15 (Solute Carrier Family 25 Member 15), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. Affiliated tissues include liver, brain and testes, and related phenotypes are cognitive impairment and neurodevelopmental delay

Disease Ontology : 12 An amino acid metabolic disorder that has material basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.

Genetics Home Reference : 25 Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (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. Ornithine translocase deficiency varies widely in its severity and age of onset. Affected infants show signs and symptoms of ornithine translocase deficiency within days after birth. In most affected individuals, however, signs and symptoms of ornithine translocase deficiency do not appear until later in life, with health problems first appearing anytime from childhood to adulthood. Later-onset forms of ornithine translocase deficiency are usually less severe than the infantile form. Infants with ornithine translocase deficiency may lack energy (be lethargic), refuse to eat, vomit frequently, or have poorly controlled breathing or body temperature. Seizures or unusual body movements are common in these individuals. Some people with this condition have intellectual disability or developmental delay, but others have normal intelligence. Severe cases may result in coma. Some people with later-onset ornithine translocase deficiency have episodes of vomiting, lethargy, problems with coordination (ataxia), vision problems, episodes of brain dysfunction (encephalopathy), developmental delay, learning disabilities, or stiffness caused by abnormal tensing of the muscles (spasticity). Affected individuals may have chronic liver problems and mild abnormal bleeding. Individuals with ornithine translocase deficiency often cannot tolerate high-protein foods, such as meat. Occasionally, high-protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase of ammonia likely leads to the signs and symptoms of ornithine translocase deficiency. While the signs and symptoms of ornithine translocase deficiency can vary greatly among affected individuals, proper treatment can prevent some complications from occurring and may improve quality of life.

KEGG : 37
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and age of onset. The HHH syndrome is thought to be caused by the defective activities of the mitochondrial carrier responsible for transporting ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome.

UniProtKB/Swiss-Prot : 74 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle.

Wikipedia : 75 Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)... more...

More information from OMIM: 238970
GeneReviews: NBK97260

Related Diseases for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Diseases related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 54, show less)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 31.1 SLC25A15 OTC NAGS CPS1 ASS1
2 gyrate atrophy of choroid and retina 31.0 SLC25A15 OAT
3 spastic paraparesis 30.9 SLC25A15 ALDH18A1
4 urea cycle disorder 30.5 SLC25A15 OTC NAGS CPS1 ASS1
5 argininemia 29.6 OTC NAGS CPS1 ASS1
6 ornithinemia 11.2
7 autosomal recessive disease 10.8
8 ocular motor apraxia 10.7
9 lysinuric protein intolerance 10.5
10 ataxia and polyneuropathy, adult-onset 10.5
11 yemenite deaf-blind hypopigmentation syndrome 10.5
12 alacrima, achalasia, and mental retardation syndrome 10.5
13 paraplegia 10.5
14 night blindness 10.5
15 learning disability 10.5
16 cerebral atrophy 10.5
17 hypotonia 10.5
18 spasticity 10.5
19 acute liver failure 10.5
20 aceruloplasminemia 10.4
21 postpartum psychosis 10.3 OTC ASS1
22 helix syndrome 10.2
23 sleep apnea 10.2
24 inherited metabolic disorder 10.2
25 encephalopathy 10.2
26 orotic aciduria 10.1 OTC ASS1
27 deafness, autosomal recessive 16 10.1 SLC25A15 LIG3
28 cerebral creatine deficiency syndrome 3 10.1 SLC6A8 OAT
29 cerebral creatine deficiency syndrome 10.1 SLC6A8 OAT
30 cerebral creatine deficiency syndrome 2 10.0 SLC6A8 OAT
31 heart disease 10.0
32 congestive heart failure 10.0
33 hyperthyroidism 10.0
34 meningitis 10.0
35 diastolic heart failure 10.0
36 tuberculous meningitis 10.0
37 branchiootic syndrome 1 10.0
38 polyneuropathy 10.0
39 hepatitis 10.0
40 hereditary spastic paraplegia 10.0
41 liver disease 10.0
42 dystonia 10.0
43 tremor 10.0
44 argininosuccinic aciduria 10.0 OTC NAGS ASS1
45 propionic acidemia 10.0 OTC NAGS ASS1
46 reye syndrome 9.8 OTC OAT ASS1
47 citrullinemia, classic 9.8 SLC25A15 OTC NAGS ASS1
48 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 9.8 OTC NAGS CPS1 ASS1
49 alopecia universalis congenita 9.8
50 amnestic disorder 9.8
51 anterograde amnesia 9.8
52 alopecia 9.8
53 ornithine transcarbamylase deficiency, hyperammonemia due to 9.7 OTC NAGS CPS1 ASS1
54 amino acid metabolic disorder 9.3 SLC6A8 MMD

Graphical network of the top 20 diseases related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:



Diseases related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Symptoms & Phenotypes for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Human phenotypes related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

59 32 (showing 48, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
2 neurodevelopmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0012758
3 hyperammonemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001987
4 hyperornithinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012026
5 abnormal circulating citrulline concentration 32 hallmark (90%) HP:0011965
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
8 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
9 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 hepatitis 59 32 frequent (33%) Frequent (79-30%) HP:0012115
12 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
13 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
14 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
15 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%) HP:0002910
16 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
17 confusion 59 32 frequent (33%) Frequent (79-30%) HP:0001289
18 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
19 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
20 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
21 poor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0002370
22 speech apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0011098
23 oroticaciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003218
24 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
25 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
26 protein avoidance 59 32 frequent (33%) Frequent (79-30%) HP:0002038
27 episodic vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002572
28 acute encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0006846
29 generalized myoclonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002123
30 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
31 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
32 abnormality of the coagulation cascade 59 32 occasional (7.5%) Occasional (29-5%) HP:0003256
33 respiratory alkalosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001950
34 multifocal cerebral white matter abnormalities 59 32 occasional (7.5%) Occasional (29-5%) HP:0007052
35 hepatic failure 59 32 very rare (1%) Very rare (<4-1%) HP:0001399
36 chorioretinal atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000533
37 chorioretinal hypopigmentation 59 32 very rare (1%) Very rare (<4-1%) HP:0040030
38 decreased liver function 59 32 Frequent (79-30%) HP:0001410
39 seizures 59 Occasional (29-5%)
40 hyperreflexia 59 Very frequent (99-80%)
41 global developmental delay 32 HP:0001263
42 decreased nerve conduction velocity 32 HP:0000762
43 acute hepatitis 32 HP:0200119
44 hypopigmentation of the fundus 32 HP:0007894
45 abnormality of citrulline metabolism 59 Very frequent (99-80%)
46 spastic paraparesis 32 HP:0002313
47 morphological abnormality of the pyramidal tract 32 HP:0002062
48 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
clonus
coma
more
Abdomen Liver:
hepatomegaly
acute hepatitis
liver dysfunction

Abdomen Gastrointestinal:
protein avoidance
episodic vomiting

Hematology:
coagulopathy due to liver dysfunction

Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperammonemia
hyperornithinemia
homocitrullinuria

Neurologic Peripheral Nervous System:
decreased vibration sense (rare)

Clinical features from OMIM:

238970

UMLS symptoms related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:


seizures, clonus, lethargy, muscle spasticity, abnormal pyramidal signs, paraparesis, spastic

Drugs & Therapeutics for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
2 Determination of the Oxygen Dissociation Curve Under the Conditions of an Avalanche Burial With an Air Pocket Not yet recruiting NCT04041531

Search NIH Clinical Center for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Genetic Tests for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Genetic tests related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

# Genetic test Affiliating Genes
1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 29 SLC25A15

Anatomical Context for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

MalaCards organs/tissues related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

41
Liver, Brain, Testes, Skin, Cerebellum

Publications for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Articles related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

(showing 113, show less)
# Title Authors PMID Year
1
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. 9 38 4 8 71
19242930 2009
2
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. 9 38 4 8 71
16940241 2006
3
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. 9 38 4 8 71
11355015 2001
4
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. 9 38 4 8 71
10369256 1999
5
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38 4 8 71
11552031 2001
6
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. 9 38 4 8
19287344 2009
7
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. 9 38 4 8
18978333 2008
8
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. 9 38 4 8
12948741 2003
9
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38 8 71
3407856 1988
10
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 4 8
2222247 1990
11
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. 4 8
3106719 1987
12
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. 4 8
5782534 1969
13
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 38 71
22649802 2012
14
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. 9 38 4
17825324 2008
15
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. 9 38 4
14759633 2004
16
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 9 38 4
10805333 2000
17
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. 38 8
1469525 1992
18
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis. 38 8
1438066 1992
19
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. 38 8
3116497 1987
20
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). 38 8
3960284 1986
21
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet. 38 8
3091924 1986
22
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38 8
4080446 1985
23
A longitudinal study of urea cycle disorders. 8
25135652 2014
24
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 38 4
23430880 2012
25
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38 4
21059345 2011
26
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. 38 4
20574716 2010
27
Diseases caused by defects of mitochondrial carriers: a review. 38 4
18406340 2008
28
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. 38 4
18376250 2008
29
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. 38 4
16601889 2006
30
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. 8
1432421 1992
31
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 8
2929667 1989
32
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. 8
3670619 1987
33
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 8
3580547 1987
34
The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. 8
6422148 1983
35
Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria. 8
6422153 1983
36
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria. 8
6120052 1982
37
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. 8
166348 1975
38
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. 8
4825593 1974
39
Management of ornithine transcarbamylase deficiency in pregnancy. 4
20458665 2010
40
Current concepts in the pathogenesis of urea cycle disorders. 4
20227314 2010
41
Astrocytes: biology and pathology. 4
20012068 2010
42
Brain imaging in urea cycle disorders. 4
20207564 2010
43
Neurologic damage and neurocognitive dysfunction in urea cycle disorders. 4
18708004 2008
44
Treatment with sodium benzoate leads to malformation of zebrafish larvae. 4
17644306 2007
45
Relationship between embryonic histonic hyperacetylation and axial skeletal defects in mouse exposed to the three HDAC inhibitors apicidin, MS-275, and sodium butyrate. 4
17517827 2007
46
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. 9 38
16376511 2006
47
The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. 4
16256388 2005
48
Lysinuric protein intolerance: mechanisms of pathophysiology. 4
15050971 2004
49
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. 4
12807890 2003
50
A novel mutation, P126R, in a Japanese patient with HHH syndrome. 9 38
11814739 2002
51
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. 9 38
11712419 2001
52
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 9 38
11668643 2001
53
A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate. 4
10691008 2000
54
Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. 4
9218780 1997
55
[Studies on effects of sodium benzoate on fetuses and offspring of Wistar rats (author's transl)]. 4
750043 1978
56
Chronic Liver Involvement in Urea Cycle Disorders. 38
31260111 2019
57
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. 38
30827756 2019
58
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature. 38
31240152 2019
59
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. 38
30734935 2019
60
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. 38
30187369 2019
61
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism. 38
30853934 2019
62
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. 38
30243302 2018
63
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38
30058227 2018
64
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 38
29094226 2018
65
[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. 38
28592010 2017
66
Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy. 38
28062886 2016
67
Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome. 38
27161368 2016
68
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. 38
27663197 2016
69
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 38
27215558 2016
70
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. 38
26589310 2016
71
Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome. 38
25772141 2015
72
Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant. 38
25818551 2015
73
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38
25874378 2015
74
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. 38
25411929 2015
75
Mitochondrial transporters of the SLC25 family and associated diseases: a review. 38
24797559 2014
76
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein. 38
24721342 2014
77
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. 38
23247599 2013
78
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. 38
23806752 2013
79
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. 38
23829977 2013
80
Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry. 38
23456691 2013
81
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task. 38
22699997 2012
82
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. 38
22798168 2012
83
Creatine metabolism in urea cycle defects. 38
22644604 2012
84
Long-term follow-up of four patients affected by HHH syndrome. 38
22465082 2012
85
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. 38
22292090 2012
86
Retinal risks of high-dose ornithine supplements: a review. 38
21767450 2011
87
Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry. 38
20209505 2010
88
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. 38
20077096 2010
89
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. 38
19683047 2009
90
Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats. 38
19616520 2009
91
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry. 38
17053917 2006
92
The mitochondrial transporter family (SLC25): physiological and pathological implications. 38
14598172 2004
93
HHH syndrome associated with callosal agenesis and disordered neuronal migration. 38
11409836 2001
94
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. 38
11764411 2001
95
[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. 38
11462710 2001
96
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. 38
9329423 1997
97
Persistent hyperammonemia in two related Morgan weanlings. 38
9298483 1997
98
Capillary electrophoresis for clinical problem solving: analysis of urinary diagnostic metabolites and serum proteins. 38
8876439 1996
99
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. 38
8739474 1996
100
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. 38
8838382 1995
101
Prenatal exclusion of the HHH syndrome. 38
7644438 1995
102
[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. 38
1291165 1992
103
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). 38
2288388 1990
104
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. 38
2501580 1989
105
[Anesthesia for a patient with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome]. 38
3367506 1988
106
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. 38
3652557 1987
107
Glycogen storage disease type IB: a new model of genetic disorders involving the transport system of intracellular membrane. 38
2988521 1985
108
Gamma-glutamylornithine excretion in patients with hyperornithinemia. 38
6547887 1984
109
The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient. 38
6429444 1984
110
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. 38
6441860 1984
111
Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction. 38
6409607 1983
112
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. 38
7055977 1982
113
Stressed power motivation, sympathetic activation, immune function, and illness. 38
7391555 1980

Variations for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

ClinVar genetic disease variations for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

6 (showing 82, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A15 NM_014252.4(SLC25A15): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs199894905 13:41379276-41379276 13:40805140-40805140
2 SLC25A15 NM_014252.4(SLC25A15): c.44C> A (p.Ala15Glu) single nucleotide variant Pathogenic rs202247806 13:41367406-41367406 13:40793270-40793270
3 SLC25A15 NM_014252.4(SLC25A15): c.564C> G (p.Phe188Leu) single nucleotide variant Pathogenic rs141028076 13:41381541-41381541 13:40807405-40807405
4 SLC25A15 NM_014252.4(SLC25A15): c.569G> A (p.Gly190Asp) single nucleotide variant Pathogenic rs202247804 13:41381546-41381546 13:40807410-40807410
5 SLC25A15 NM_014252.4(SLC25A15): c.658G> A (p.Gly220Arg) single nucleotide variant Pathogenic rs202247805 13:41382609-41382609 13:40808473-40808473
6 SLC25A15 NM_014252.4(SLC25A15): c.818T> A (p.Met273Lys) single nucleotide variant Pathogenic rs202247808 13:41383715-41383715 13:40809579-40809579
7 SLC25A15 NM_014252.4(SLC25A15): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs202247809 13:41383744-41383744 13:40809608-40809608
8 SLC25A15 NM_014252.4(SLC25A15): c.95C> G (p.Thr32Arg) single nucleotide variant Pathogenic rs121908536 13:41373232-41373232 13:40799096-40799096
9 SLC25A15 NM_014252.4(SLC25A15): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs121908535 13:41383712-41383712 13:40809576-40809576
10 SLC25A15 NM_014252.4(SLC25A15): c.212T> A (p.Leu71Gln) single nucleotide variant Pathogenic rs121908534 13:41373349-41373349 13:40799213-40799213
11 SLC25A15 NM_014252.4(SLC25A15): c.110T> G (p.Met37Arg) single nucleotide variant Pathogenic rs121908533 13:41373247-41373247 13:40799111-40799111
12 SLC25A15 NM_014252.4(SLC25A15): c.824G> A (p.Arg275Gln) single nucleotide variant Pathogenic rs104894431 13:41383721-41383721 13:40809585-40809585
13 SLC25A15 NM_014252.4(SLC25A15): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic rs104894430 13:41373216-41373216 13:40799080-40799080
14 SLC25A15 NM_014252.4(SLC25A15): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs104894429 13:41381512-41381512 13:40807376-40807376
15 SLC25A15 NM_014252.4(SLC25A15): c.538G> A (p.Glu180Lys) single nucleotide variant Pathogenic rs104894424 13:41381515-41381515 13:40807379-40807379
16 SLC25A15 NM_014252.4(SLC25A15): c.553_555TTC[3] (p.Phe188del) short repeat Pathogenic rs202247803 13:41381539-41381541 13:40807403-40807405
17 SLC25A15 NM_014252.4(SLC25A15): c.446del (p.Ser149fs) deletion Pathogenic 13:41379385-41379385 13:40805249-40805249
18 SLC25A15 NC_000013.10: g.(?_41301957)_(41385023_?)del deletion Pathogenic 13:41301957-41385023 13:40727821-40810887
19 SLC25A15 NM_014252.4(SLC25A15): c.514G> T (p.Gly172Ter) single nucleotide variant Pathogenic 13:41381491-41381491 13:40807355-40807355
20 SLC25A15 NM_014252.4(SLC25A15): c.521C> A (p.Ser174Ter) single nucleotide variant Pathogenic 13:41381498-41381498 13:40807362-40807362
21 SLC25A15 NM_014252.4(SLC25A15): c.823C> T (p.Arg275Ter) single nucleotide variant Likely pathogenic rs202247807 13:41383720-41383720 13:40809584-40809584
22 SLC25A15 NM_014252.4(SLC25A15): c.182G> A (p.Arg61His) single nucleotide variant Conflicting interpretations of pathogenicity rs34615430 13:41373319-41373319 13:40799183-40799183
23 SLC25A15 NM_014252.4(SLC25A15): c.-67A> T single nucleotide variant Conflicting interpretations of pathogenicity rs112276566 13:41367296-41367296 13:40793160-40793160
24 SLC25A15 NM_014252.4(SLC25A15): c.225C> T (p.Ile75=) single nucleotide variant Conflicting interpretations of pathogenicity rs765380976 13:41373362-41373362 13:40799226-40799226
25 SLC25A15 NM_014252.4(SLC25A15): c.*639G> A single nucleotide variant Uncertain significance rs192586176 13:41384442-41384442 13:40810306-40810306
26 SLC25A15 NM_014252.4(SLC25A15): c.*640C> T single nucleotide variant Uncertain significance rs763688411 13:41384443-41384443 13:40810307-40810307
27 SLC25A15 NM_014252.3(SLC25A15): c.-273C> G single nucleotide variant Uncertain significance rs541415883 13:41363596-41363596 13:40789460-40789460
28 SLC25A15 NM_014252.4(SLC25A15): c.*1345G> C single nucleotide variant Uncertain significance rs886050243 13:41385148-41385148 13:40811012-40811012
29 SLC25A15 NM_014252.4(SLC25A15): c.*1721C> T single nucleotide variant Uncertain significance rs536553279 13:41385524-41385524 13:40811388-40811388
30 SLC25A15 NM_014252.3(SLC25A15): c.-245C> T single nucleotide variant Uncertain significance rs886050237 13:41363624-41363624 13:40789488-40789488
31 SLC25A15 NM_014252.3(SLC25A15): c.-167G> A single nucleotide variant Uncertain significance rs886050238 13:41363702-41363702 13:40789566-40789566
32 SLC25A15 NM_014252.4(SLC25A15): c.278G> A (p.Arg93Gln) single nucleotide variant Uncertain significance rs369201060 13:41373415-41373415 13:40799279-40799279
33 SLC25A15 NM_014252.4(SLC25A15): c.343T> G (p.Phe115Val) single nucleotide variant Uncertain significance rs886050240 13:41379282-41379282 13:40805146-40805146
34 SLC25A15 NM_014252.4(SLC25A15): c.552T> C (p.Tyr184=) single nucleotide variant Uncertain significance rs374352017 13:41381529-41381529 13:40807393-40807393
35 SLC25A15 NM_014252.4(SLC25A15): c.632C> T (p.Pro211Leu) single nucleotide variant Uncertain significance rs139034961 13:41382583-41382583 13:40808447-40808447
36 SLC25A15 NM_014252.4(SLC25A15): c.565G> A (p.Gly189Ser) single nucleotide variant Uncertain significance rs151239794 13:41381542-41381542 13:40807406-40807406
37 SLC25A15 NM_014252.4(SLC25A15): c.*217G> A single nucleotide variant Uncertain significance rs886050241 13:41384020-41384020 13:40809884-40809884
38 SLC25A15 NM_014252.4(SLC25A15): c.*1595G> A single nucleotide variant Uncertain significance rs886050245 13:41385398-41385398 13:40811262-40811262
39 SLC25A15 NM_014252.4(SLC25A15): c.*1982A> C single nucleotide variant Uncertain significance rs886050247 13:41385785-41385785 13:40811649-40811649
40 SLC25A15 NM_014252.4(SLC25A15): c.*2105A> T single nucleotide variant Uncertain significance rs886050248 13:41385908-41385908 13:40811772-40811772
41 SLC25A15 NM_014252.4(SLC25A15): c.*2190T> C single nucleotide variant Uncertain significance rs117823875 13:41385993-41385993 13:40811857-40811857
42 SLC25A15 NM_014252.4(SLC25A15): c.*2264C> T single nucleotide variant Uncertain significance rs544170849 13:41386067-41386067 13:40811931-40811931
43 SLC25A15 NM_014252.3(SLC25A15): c.-320G> C single nucleotide variant Uncertain significance rs12372842 13:41363549-41363549 13:40789413-40789413
44 SLC25A15 NM_014252.3(SLC25A15): c.-304C> G single nucleotide variant Uncertain significance rs886050236 13:41363565-41363565 13:40789429-40789429
45 SLC25A15 NM_014252.4(SLC25A15): c.-41G> A single nucleotide variant Uncertain significance rs375382325 13:41367322-41367322 13:40793186-40793186
46 SLC25A15 NM_014252.4(SLC25A15): c.345C> T (p.Phe115=) single nucleotide variant Uncertain significance rs35434090 13:41379284-41379284 13:40805148-40805148
47 SLC25A15 NM_014252.4(SLC25A15): c.*58G> T single nucleotide variant Uncertain significance rs17090557 13:41383861-41383861 13:40809725-40809725
48 SLC25A15 NM_014252.4(SLC25A15): c.-101C> G single nucleotide variant Uncertain significance rs886050239 13:41363768-41363768 13:40789632-40789632
49 SLC25A15 NM_014252.4(SLC25A15): c.862G> A (p.Glu288Lys) single nucleotide variant Uncertain significance 13:41383759-41383759 13:40809623-40809623
50 SLC25A15 NM_014252.4(SLC25A15): c.*2373T> C single nucleotide variant Uncertain significance rs886050249 13:41386176-41386176 13:40812040-40812040
51 SLC25A15 NM_014252.4(SLC25A15): c.*2494G> A single nucleotide variant Uncertain significance rs886050250 13:41386297-41386297 13:40812161-40812161
52 SLC25A15 NM_014252.4(SLC25A15): c.*1319G> C single nucleotide variant Uncertain significance rs886050242 13:41385122-41385122 13:40810986-40810986
53 SLC25A15 NM_014252.4(SLC25A15): c.*1485T> A single nucleotide variant Uncertain significance rs886050244 13:41385288-41385288 13:40811152-40811152
54 SLC25A15 NM_014252.4(SLC25A15): c.*1682C> T single nucleotide variant Uncertain significance rs557871939 13:41385485-41385485 13:40811349-40811349
55 SLC25A15 NM_014252.4(SLC25A15): c.380C> T (p.Thr127Met) single nucleotide variant Uncertain significance rs201902280 13:41379319-41379319 13:40805183-40805183
56 SLC25A15 NM_014252.4(SLC25A15): c.*2071C> T single nucleotide variant Uncertain significance rs757326840 13:41385874-41385874 13:40811738-40811738
57 SLC25A15 NM_014252.4(SLC25A15): c.*871T> C single nucleotide variant Uncertain significance rs767132355 13:41384674-41384674 13:40810538-40810538
58 SLC25A15 NM_014252.4(SLC25A15): c.*1737G> A single nucleotide variant Uncertain significance rs574269155 13:41385540-41385540 13:40811404-40811404
59 SLC25A15 NM_014252.4(SLC25A15): c.*1641G> T single nucleotide variant Likely benign rs149457069 13:41385444-41385444 13:40811308-40811308
60 SLC25A15 NM_014252.4(SLC25A15): c.*1626A> G single nucleotide variant Likely benign rs59670947 13:41385429-41385429 13:40811293-40811293
61 SLC25A15 NM_014252.4(SLC25A15): c.*1494A> G single nucleotide variant Likely benign rs113342797 13:41385297-41385297 13:40811161-40811161
62 SLC25A15 NM_014252.4(SLC25A15): c.*1945G> A single nucleotide variant Likely benign rs114817943 13:41385748-41385748 13:40811612-40811612
63 SLC25A15 NM_014252.3(SLC25A15): c.-259G> C single nucleotide variant Likely benign rs191621874 13:41363610-41363610 13:40789474-40789474
64 SLC25A15 NM_014252.4(SLC25A15): c.*929G> C single nucleotide variant Likely benign rs17061602 13:41384732-41384732 13:40810596-40810596
65 SLC25A15 NM_014252.4(SLC25A15): c.*2097T> A single nucleotide variant Likely benign rs17592947 13:41385900-41385900 13:40811764-40811764
66 SLC25A15 NM_014252.4(SLC25A15): c.*684C> T single nucleotide variant Likely benign rs111782657 13:41384487-41384487 13:40810351-40810351
67 SLC25A15 NM_014252.4(SLC25A15): c.*610G> T single nucleotide variant Likely benign rs7320743 13:41384413-41384413 13:40810277-40810277
68 SLC25A15 NM_014252.4(SLC25A15): c.789G> A (p.Thr263=) single nucleotide variant Likely benign rs144478411 13:41383686-41383686 13:40809550-40809550
69 SLC25A15 NM_014252.4(SLC25A15): c.*898C> T single nucleotide variant Likely benign rs12585190 13:41384701-41384701 13:40810565-40810565
70 SLC25A15 NM_014252.4(SLC25A15): c.*48T> A single nucleotide variant Likely benign rs145530626 13:41383851-41383851 13:40809715-40809715
71 SLC25A15 NM_014252.4(SLC25A15): c.*159C> G single nucleotide variant Likely benign rs9577153 13:41383962-41383962 13:40809826-40809826
72 SLC25A15 NM_014252.4(SLC25A15): c.*1829_*1833AAAAG[2] short repeat Likely benign rs201178711 13:41385642-41385646 13:40811506-40811510
73 SLC25A15 NM_014252.4(SLC25A15): c.*420T> G single nucleotide variant Likely benign rs75842883 13:41384223-41384223 13:40810087-40810087
74 SLC25A15 NM_014252.4(SLC25A15): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs9577152 13:41379272-41379272 13:40805136-40805136
75 SLC25A15 NM_014252.4(SLC25A15): c.117G> A (p.Thr39=) single nucleotide variant Benign/Likely benign rs41396747 13:41373254-41373254 13:40799118-40799118
76 SLC25A15 NM_014252.4(SLC25A15): c.760A> T (p.Ile254Leu) single nucleotide variant Benign rs17849654 13:41382711-41382711 13:40808575-40808575
77 SLC25A15 NM_014252.4(SLC25A15): c.*2328G> T single nucleotide variant Benign rs9577154 13:41386131-41386131 13:40811995-40811995
78 SLC25A15 NM_014252.4(SLC25A15): c.*515A> G single nucleotide variant Benign rs7322603 13:41384318-41384318 13:40810182-40810182
79 SLC25A15 NM_014252.4(SLC25A15): c.*1855C> A single nucleotide variant Benign rs9566580 13:41385658-41385658 13:40811522-40811522
80 SLC25A15 NM_014252.4(SLC25A15): c.*353A> G single nucleotide variant Benign rs9549293 13:41384156-41384156 13:40810020-40810020
81 SLC25A15 NM_014252.4(SLC25A15): c.*579C> T single nucleotide variant Benign rs7321976 13:41384382-41384382 13:40810246-40810246
82 SLC25A15 NM_014252.3(SLC25A15): c.-274T> C single nucleotide variant Benign rs7997189 13:41363595-41363595 13:40789459-40789459

UniProtKB/Swiss-Prot genetic disease variations for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

74 (showing 14, show less)
# Symbol AA change Variation ID SNP ID
1 SLC25A15 p.Gly27Glu VAR_012757 rs120899402
2 SLC25A15 p.Gly27Arg VAR_012758 rs104894430
3 SLC25A15 p.Pro126Arg VAR_012759
4 SLC25A15 p.Glu180Lys VAR_012760 rs104894424
5 SLC25A15 p.Gly190Asp VAR_012762 rs202247804
6 SLC25A15 p.Arg275Gln VAR_012764 rs104894431
7 SLC25A15 p.Met37Arg VAR_058948 rs121908533
8 SLC25A15 p.Leu71Gln VAR_058950 rs121908534
9 SLC25A15 p.Gly113Cys VAR_058951 rs199894905
10 SLC25A15 p.Phe188Leu VAR_058952 rs141028076
11 SLC25A15 p.Gly216Ser VAR_058953 rs141716760
12 SLC25A15 p.Thr272Ile VAR_058954 rs121908535
13 SLC25A15 p.Met273Lys VAR_058955 rs202247808
14 SLC25A15 p.Leu283Phe VAR_058956 rs202247809

Expression for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Search GEO for disease gene expression data for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Pathways for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Pathways related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome according to GeneCards Suite gene sharing:

(showing 8, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SLC6A8 SLC25A2 SLC25A15 OTC OAT NAGS
2
Show member pathways
13.38 SLC6A8 SLC25A2 SLC25A15 OTC OAT NAGS
3
Show member pathways
11.98 OTC NAGS CPS1 ASS1 ALDH18A1
4 11.51 OTC OAT CPS1 ASS1 ALDH18A1
5
Show member pathways
11.05 OAT ALDH18A1
6 10.96 CPS1 ASS1
7
Show member pathways
10.67 OTC NAGS CPS1 ASS1
8
Show member pathways
10.48 OTC OAT NAGS CPS1 ASS1 ALDH18A1

GO Terms for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Cellular components related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 OTC OAT NAGS CPS1
2 mitochondrial inner membrane GO:0005743 9.43 SLC25A29 SLC25A2 SLC25A15 OTC CPS1 ALDH18A1
3 mitochondrion GO:0005739 9.32 SLC25A29 SLC25A2 SLC25A15 OTC OAT NAGS

Biological processes related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome according to GeneCards Suite gene sharing:

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.67 OTC CPS1 ASS1
2 cellular amino acid biosynthetic process GO:0008652 9.62 OTC OAT ASS1 ALDH18A1
3 response to zinc ion GO:0010043 9.61 OTC CPS1 ASS1
4 response to amino acid GO:0043200 9.57 CPS1 ASS1
5 response to steroid hormone GO:0048545 9.56 CPS1 ASS1
6 cellular response to glucagon stimulus GO:0071377 9.55 CPS1 ASS1
7 glutamate metabolic process GO:0006536 9.54 NAGS ALDH18A1
8 midgut development GO:0007494 9.54 OTC CPS1 ASS1
9 response to growth hormone GO:0060416 9.52 CPS1 ASS1
10 response to amine GO:0014075 9.51 CPS1 ASS1
11 L-proline biosynthetic process GO:0055129 9.48 OAT ALDH18A1
12 cellular response to oleic acid GO:0071400 9.46 CPS1 ASS1
13 citrulline biosynthetic process GO:0019240 9.43 OTC CPS1 ALDH18A1
14 anion homeostasis GO:0055081 9.4 OTC CPS1
15 mitochondrial L-ornithine transmembrane transport GO:1990575 9.33 SLC25A29 SLC25A2 SLC25A15
16 arginine biosynthetic process GO:0006526 9.26 OTC NAGS CPS1 ASS1
17 urea cycle GO:0000050 9.1 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1

Molecular functions related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.33 LIG3 CPS1 ASS1
2 amino acid binding GO:0016597 8.96 OTC ASS1
3 L-ornithine transmembrane transporter activity GO:0000064 8.62 SLC25A2 SLC25A15

Sources for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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