HHH SYNDROME
MCID: HYP774
MIFTS: 55

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 56 24 52 25 58 73 36 29 6
Hhh Syndrome 56 12 74 24 52 25 58 73 54 71
Ornithine Translocase Deficiency 56 12 52 25 58 15
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 56 25 13 39
Triple H Syndrome 25 58
Hhhs 56 52
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 12
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome 74
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome 25
Mitochondrial Ornithine Transporter Deficiency 24
Ornithine Translocase Deficiency Syndrome 52
Ornithine Carrier Deficiency 58
Hhh Syndrome; Hhhs; Hhh 56
Ornt1 Deficiency 58
Hhh 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Miscellaneous:
phenotypic variability
onset in first months or years of life
increased prevalence in the french-canadian population

Inheritance:
autosomal recessive


HPO:

31
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 415 Definition A rare, genetic 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 coagulation defects or other chronic liver dysfunction. Epidemiology More 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 description Age 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. Etiology The 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, between infancy to adulthood. Diagnostic methods Diagnosis 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 as is the presence of homocitrulline in urine. Molecular genetic testing confirms diagnosis. Differential diagnosis Differential diagnosis includes other urea cycle disorders as well as lysinuric protein intolerance. Hyperinsulinism-hyperammonemia syndrome, pyruvate carboxylase deficiency and secondary causes of hyperammonemia should also be considered. Antenatal diagnosis Prenatal diagnosis is possible in families with a known disease causing mutation on both alleles . Genetic counseling The pattern of inheritance is autosomal recessive ; where both parents are unaffected carriers , there is a 25% risk of inheriting the disease. Management and treatment Treatment involves the adherence to a low protein diet along with citrulline or arginine supplementation. In resistant cases, sodium benzoate and/or sodium or glycerol 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. Prognosis With 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 gyrate atrophy of choroid and retina and spastic paraparesis, 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 : 36 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 : 73 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 : 74 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 66, show less)
# Related Disease Score Top Affiliating Genes
1 gyrate atrophy of choroid and retina 30.7 SLC25A15 OAT
2 spastic paraparesis 30.5 SLC25A15 ALDH18A1
3 lysinuric protein intolerance 30.4 OTC NAGS ASS1 ASL
4 carbonic anhydrase va deficiency, hyperammonemia due to 29.1 SLC25A20 SLC25A15 SLC25A13 OTC NAGS CPS1
5 urea cycle disorder 28.9 SLC25A2 SLC25A15 SLC25A13 OTC NAGS CPS1
6 argininemia 27.7 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
7 ornithinemia 11.2
8 autosomal recessive disease 10.8
9 ocular motor apraxia 10.7
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 10.3
21 postpartum psychosis 10.3 OTC ASS1
22 acyl-coa dehydrogenase deficiency 10.2 OTC ASS1
23 citrullinemia, type ii, adult-onset 10.2 SLC25A13 ASS1
24 helix syndrome 10.2
25 sleep apnea 10.2
26 hereditary spastic paraplegia 10.2
27 inherited metabolic disorder 10.2
28 encephalopathy 10.2
29 cerebral creatine deficiency syndrome 10.1 OTC OAT
30 3-methylcrotonyl-coa carboxylase deficiency 10.1 SLC25A20 SLC25A13
31 acyl-coa dehydrogenase, very long-chain, deficiency of 10.1 SLC25A20 SLC25A13
32 tyrosinemia, type i 10.0 SLC25A13 OTC NAGS
33 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 SLC25A20 SLC25A13
34 maple syrup urine disease 10.0 SLC25A13 OTC NAGS
35 heart disease 10.0
36 congestive heart failure 10.0
37 hyperthyroidism 10.0
38 meningitis 10.0
39 diastolic heart failure 10.0
40 tuberculous meningitis 10.0
41 carnitine deficiency, systemic primary 10.0 SLC25A20 SLC25A13
42 branchiootic syndrome 1 10.0
43 polyneuropathy 10.0
44 liver disease 10.0
45 dystonia 10.0
46 peripheral nervous system disease 10.0
47 neuropathy 10.0
48 tremor 10.0
49 rare peripheral neuropathy 10.0
50 cerebral creatine deficiency syndrome 3 9.9 OAT ASL
51 reye syndrome 9.9 OTC OAT ASS1
52 multiple carboxylase deficiency 9.8 SLC25A13 OTC
53 alopecia universalis congenita 9.8
54 amnestic disorder 9.8
55 anterograde amnesia 9.8
56 alopecia 9.8
57 pyrimidine metabolic disorder 9.7 OTC NAGS ASS1 ASL
58 isovaleric acidemia 9.7 NAGS CPS1
59 methylmalonic acidemia 9.7 OTC NAGS CPS1
60 amino acid metabolic disorder 9.3 SLC25A15 SLC25A13 OTC NAGS ASS1 ASL
61 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 8.9 SLC25A15 OTC NAGS CPS1 ASS1 ASL
62 propionic acidemia 8.9 SLC25A13 OTC NAGS CPS1 ASS1 ASL
63 orotic aciduria 8.7 OTC OAT NAGS CPS1 ASS1 ASL
64 ornithine transcarbamylase deficiency, hyperammonemia due to 8.7 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
65 citrullinemia, classic 8.7 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
66 argininosuccinic aciduria 8.7 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1

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:

58 31 (showing 48, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
2 neurodevelopmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0012758
3 hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001987
4 hyperornithinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012026
5 abnormal circulating citrulline concentration 31 hallmark (90%) HP:0011965
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
9 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
10 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
11 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
12 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
13 hepatitis 58 31 frequent (33%) Frequent (79-30%) HP:0012115
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
16 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
17 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
18 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
19 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
20 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
21 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
22 poor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002370
23 oroticaciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003218
24 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
25 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
26 protein avoidance 58 31 frequent (33%) Frequent (79-30%) HP:0002038
27 episodic vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002572
28 acute encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0006846
29 generalized myoclonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002123
30 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
31 spastic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002064
32 abnormality of the coagulation cascade 58 31 occasional (7.5%) Occasional (29-5%) HP:0003256
33 respiratory alkalosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001950
34 multifocal cerebral white matter abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0007052
35 hepatic failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001399
36 chorioretinal atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000533
37 chorioretinal hypopigmentation 58 31 very rare (1%) Very rare (<4-1%) HP:0040030
38 decreased liver function 58 31 Frequent (79-30%) HP:0001410
39 seizures 58 Occasional (29-5%)
40 hyperreflexia 58 Very frequent (99-80%)
41 global developmental delay 31 HP:0001263
42 decreased nerve conduction velocity 31 HP:0000762
43 acute hepatitis 31 HP:0200119
44 hypopigmentation of the fundus 31 HP:0007894
45 spastic paraparesis 31 HP:0002313
46 abnormality of citrulline metabolism 58 Very frequent (99-80%)
47 morphological abnormality of the pyramidal tract 31 HP:0002062
48 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.7 ALDH18A1 ASL ASS1 CA5A CPS1 NAGS
2 renal/urinary system MP:0005367 9.1 ASL OAT OTC SLC25A13 SLC25A15 SLC25A20

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:

40
Liver, Brain, Testes, Cerebellum, Skin

Publications for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Articles related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

(showing 114, 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. 24 61 54 56 6
19242930 2009
2
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. 61 56 6 24 54
16940241 2006
3
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. 56 24 6 54 61
11355015 2001
4
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. 56 6 24 61 54
10369256 1999
5
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 6 56 61 24
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. 56 24 54 61
19287344 2009
7
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. 24 56 61 54
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. 54 24 56 61
12948741 2003
9
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 61 6 56
3407856 1988
10
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 24 56
2222247 1990
11
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. 56 24
3106719 1987
12
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. 24 56
5782534 1969
13
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 6 61
22649802 2012
14
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. 61 24 54
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. 24 54 61
14759633 2004
16
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 61 54 24
10805333 2000
17
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. 56 61
1469525 1992
18
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis. 56 61
1438066 1992
19
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. 61 56
3116497 1987
20
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). 61 56
3960284 1986
21
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet. 61 56
3091924 1986
22
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 61 56
4080446 1985
23
A longitudinal study of urea cycle disorders. 56
25135652 2014
24
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 24 61
23430880 2012
25
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 61 24
21059345 2011
26
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. 24 61
20574716 2010
27
Diseases caused by defects of mitochondrial carriers: a review. 61 24
18406340 2008
28
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. 24 61
18376250 2008
29
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. 61 24
16601889 2006
30
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. 56
1432421 1992
31
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 56
2929667 1989
32
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. 56
3670619 1987
33
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 56
3580547 1987
34
The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. 56
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. 56
6422153 1983
36
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria. 56
6120052 1982
37
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. 56
166348 1975
38
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. 56
4825593 1974
39
Management of ornithine transcarbamylase deficiency in pregnancy. 24
20458665 2010
40
Current concepts in the pathogenesis of urea cycle disorders. 24
20227314 2010
41
Astrocytes: biology and pathology. 24
20012068 2010
42
Brain imaging in urea cycle disorders. 24
20207564 2010
43
Neurologic damage and neurocognitive dysfunction in urea cycle disorders. 24
18708004 2008
44
Treatment with sodium benzoate leads to malformation of zebrafish larvae. 24
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. 24
17517827 2007
46
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. 61 54
16376511 2006
47
The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. 24
16256388 2005
48
Lysinuric protein intolerance: mechanisms of pathophysiology. 24
15050971 2004
49
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. 24
12807890 2003
50
A novel mutation, P126R, in a Japanese patient with HHH syndrome. 61 54
11814739 2002
51
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. 61 54
11712419 2001
52
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 54 61
11668643 2001
53
A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate. 24
10691008 2000
54
Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. 24
9218780 1997
55
[Studies on effects of sodium benzoate on fetuses and offspring of Wistar rats (author's transl)]. 24
750043 1978
56
Chronic liver involvement in urea cycle disorders. 61
31260111 2019
57
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. 61
30734935 2019
58
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia. 61
31443672 2019
59
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. 61
30827756 2019
60
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature. 61
31240152 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. 61
30853934 2019
62
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. 61
30187369 2019
63
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. 61
30243302 2018
64
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 61
30058227 2018
65
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 61
29094226 2018
66
[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. 61
28592010 2017
67
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. 61
28062886 2016
68
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. 61
27161368 2016
69
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. 61
27663197 2016
70
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 61
27215558 2016
71
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. 61
26589310 2016
72
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. 61
25772141 2015
73
Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant. 61
25818551 2015
74
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 61
25874378 2015
75
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. 61
25411929 2015
76
Mitochondrial transporters of the SLC25 family and associated diseases: a review. 61
24797559 2014
77
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein. 61
24721342 2014
78
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. 61
23247599 2013
79
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. 61
23806752 2013
80
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. 61
23829977 2013
81
Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry. 61
23456691 2013
82
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task. 61
22699997 2012
83
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. 61
22798168 2012
84
Creatine metabolism in urea cycle defects. 61
22644604 2012
85
Long-term follow-up of four patients affected by HHH syndrome. 61
22465082 2012
86
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. 61
22292090 2012
87
Retinal risks of high-dose ornithine supplements: a review. 61
21767450 2011
88
Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry. 61
20209505 2010
89
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. 61
20077096 2010
90
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. 61
19683047 2009
91
Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats. 61
19616520 2009
92
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry. 61
17053917 2006
93
The mitochondrial transporter family (SLC25): physiological and pathological implications. 61
14598172 2004
94
HHH syndrome associated with callosal agenesis and disordered neuronal migration. 61
11409836 2001
95
[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. 61
11462710 2001
96
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. 61
11764411 2001
97
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. 61
9329423 1997
98
Persistent hyperammonemia in two related Morgan weanlings. 61
9298483 1997
99
Capillary electrophoresis for clinical problem solving: analysis of urinary diagnostic metabolites and serum proteins. 61
8876439 1996
100
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. 61
8739474 1996
101
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. 61
8838382 1995
102
Prenatal exclusion of the HHH syndrome. 61
7644438 1995
103
[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. 61
1291165 1992
104
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). 61
2288388 1990
105
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. 61
2501580 1989
106
[Anesthesia for a patient with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome]. 61
3367506 1988
107
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. 61
3652557 1987
108
Glycogen storage disease type IB: a new model of genetic disorders involving the transport system of intracellular membrane. 61
2988521 1985
109
Gamma-glutamylornithine excretion in patients with hyperornithinemia. 61
6547887 1984
110
The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient. 61
6429444 1984
111
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. 61
6441860 1984
112
Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction. 61
6409607 1983
113
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. 61
7055977 1982
114
Stressed power motivation, sympathetic activation, immune function, and illness. 61
7391555 1980

Variations for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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

6 (showing 82, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A15 NM_014252.4(SLC25A15):c.553_555TTC[3] (p.Phe188del)short repeat Pathogenic 5992 rs202247803 13:41381539-41381541 13:40807403-40807405
2 SLC25A15 NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)SNV Pathogenic 5993 rs104894424 13:41381515-41381515 13:40807379-40807379
3 SLC25A15 NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)SNV Pathogenic 5994 rs104894429 13:41381512-41381512 13:40807376-40807376
4 SLC25A15 NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)SNV Pathogenic 5995 rs104894430 13:41373216-41373216 13:40799080-40799080
5 SLC25A15 NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)SNV Pathogenic 5996 rs104894431 13:41383721-41383721 13:40809585-40809585
6 SLC25A15 NM_014252.4(SLC25A15):c.110T>G (p.Met37Arg)SNV Pathogenic 5997 rs121908533 13:41373247-41373247 13:40799111-40799111
7 SLC25A15 NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)SNV Pathogenic 5998 rs121908534 13:41373349-41373349 13:40799213-40799213
8 SLC25A15 NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)SNV Pathogenic 5999 rs121908535 13:41383712-41383712 13:40809576-40809576
9 SLC25A15 NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)SNV Pathogenic 6000 rs121908536 13:41373232-41373232 13:40799096-40799096
10 SLC25A15 NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)SNV Pathogenic 38397 rs199894905 13:41379276-41379276 13:40805140-40805140
11 SLC25A15 NM_014252.4(SLC25A15):c.44C>A (p.Ala15Glu)SNV Pathogenic 38398 rs202247806 13:41367406-41367406 13:40793270-40793270
12 SLC25A15 NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)SNV Pathogenic 38399 rs141028076 13:41381541-41381541 13:40807405-40807405
13 SLC25A15 NM_014252.4(SLC25A15):c.569G>A (p.Gly190Asp)SNV Pathogenic 38400 rs202247804 13:41381546-41381546 13:40807410-40807410
14 SLC25A15 NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)SNV Pathogenic 38401 rs202247805 13:41382609-41382609 13:40808473-40808473
15 SLC25A15 NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys)SNV Pathogenic 38402 rs202247808 13:41383715-41383715 13:40809579-40809579
16 SLC25A15 NM_014252.4(SLC25A15):c.847C>T (p.Leu283Phe)SNV Pathogenic 38404 rs202247809 13:41383744-41383744 13:40809608-40809608
17 SLC25A15 NM_014252.4(SLC25A15):c.446del (p.Ser149fs)deletion Pathogenic 567983 rs1566123619 13:41379385-41379385 13:40805249-40805249
18 SLC25A15 NC_000013.10:g.(?_41301957)_(41385023_?)deldeletion Pathogenic 583427 13:41301957-41385023 13:40727821-40810887
19 SLC25A15 NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)SNV Pathogenic 656435 13:41381491-41381491 13:40807355-40807355
20 SLC25A15 NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter)SNV Pathogenic 650947 13:41381498-41381498 13:40807362-40807362
21 SLC25A15 NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)SNV Likely pathogenic 38403 rs202247807 13:41383720-41383720 13:40809584-40809584
22 SLC25A15 NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)SNV Conflicting interpretations of pathogenicity 203939 rs34615430 13:41373319-41373319 13:40799183-40799183
23 SLC25A15 NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)SNV Conflicting interpretations of pathogenicity 312176 rs765380976 13:41373362-41373362 13:40799226-40799226
24 SLC25A15 NM_014252.4(SLC25A15):c.-67A>TSNV Conflicting interpretations of pathogenicity 312174 rs112276566 13:41367296-41367296 13:40793160-40793160
25 SLC25A15 NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser)SNV Uncertain significance 312181 rs151239794 13:41381542-41381542 13:40807406-40807406
26 SLC25A15 NM_014252.4(SLC25A15):c.*217G>ASNV Uncertain significance 312186 rs886050241 13:41384020-41384020 13:40809884-40809884
27 SLC25A15 NM_014252.4(SLC25A15):c.*1595G>ASNV Uncertain significance 312202 rs886050245 13:41385398-41385398 13:40811262-40811262
28 SLC25A15 NM_014252.4(SLC25A15):c.*1982A>CSNV Uncertain significance 312211 rs886050247 13:41385785-41385785 13:40811649-40811649
29 SLC25A15 NM_014252.4(SLC25A15):c.*2105A>TSNV Uncertain significance 312214 rs886050248 13:41385908-41385908 13:40811772-40811772
30 SLC25A15 NM_014252.4(SLC25A15):c.*2190T>CSNV Uncertain significance 312215 rs117823875 13:41385993-41385993 13:40811857-40811857
31 SLC25A15 NM_014252.4(SLC25A15):c.*2264C>TSNV Uncertain significance 312216 rs544170849 13:41386067-41386067 13:40811931-40811931
32 SLC25A15 NM_014252.3(SLC25A15):c.-320G>CSNV Uncertain significance 312166 rs12372842 13:41363549-41363549 13:40789413-40789413
33 SLC25A15 NM_014252.3(SLC25A15):c.-304C>GSNV Uncertain significance 312167 rs886050236 13:41363565-41363565 13:40789429-40789429
34 SLC25A15 NM_014252.4(SLC25A15):c.-41G>ASNV Uncertain significance 312175 rs375382325 13:41367322-41367322 13:40793186-40793186
35 SLC25A15 NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)SNV Uncertain significance 312179 rs35434090 13:41379284-41379284 13:40805148-40805148
36 SLC25A15 NM_014252.4(SLC25A15):c.*58G>TSNV Uncertain significance 312184 rs17090557 13:41383861-41383861 13:40809725-40809725
37 SLC25A15 NM_014252.4(SLC25A15):c.*1345G>CSNV Uncertain significance 312199 rs886050243 13:41385148-41385148 13:40811012-40811012
38 SLC25A15 NM_014252.4(SLC25A15):c.*1721C>TSNV Uncertain significance 312206 rs536553279 13:41385524-41385524 13:40811388-40811388
39 SLC25A15 NM_014252.4(SLC25A15):c.*1737G>ASNV Uncertain significance 312207 rs574269155 13:41385540-41385540 13:40811404-40811404
40 SLC25A15 NM_014252.4(SLC25A15):c.*2071C>TSNV Uncertain significance 312212 rs757326840 13:41385874-41385874 13:40811738-40811738
41 SLC25A15 NM_014252.3(SLC25A15):c.-245C>TSNV Uncertain significance 312171 rs886050237 13:41363624-41363624 13:40789488-40789488
42 SLC25A15 NM_014252.3(SLC25A15):c.-167G>ASNV Uncertain significance 312172 rs886050238 13:41363702-41363702 13:40789566-40789566
43 SLC25A15 NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)SNV Uncertain significance 312177 rs369201060 13:41373415-41373415 13:40799279-40799279
44 SLC25A15 NM_014252.4(SLC25A15):c.343T>G (p.Phe115Val)SNV Uncertain significance 312178 rs886050240 13:41379282-41379282 13:40805146-40805146
45 SLC25A15 NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=)SNV Uncertain significance 312180 rs374352017 13:41381529-41381529 13:40807393-40807393
46 SLC25A15 NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu)SNV Uncertain significance 312182 rs139034961 13:41382583-41382583 13:40808447-40808447
47 SLC25A15 NM_014252.4(SLC25A15):c.*1485T>ASNV Uncertain significance 312200 rs886050244 13:41385288-41385288 13:40811152-40811152
48 SLC25A15 NM_014252.4(SLC25A15):c.*1682C>TSNV Uncertain significance 312205 rs557871939 13:41385485-41385485 13:40811349-40811349
49 SLC25A15 NM_014252.4(SLC25A15):c.*871T>CSNV Uncertain significance 312195 rs767132355 13:41384674-41384674 13:40810538-40810538
50 SLC25A15 NM_014252.4(SLC25A15):c.*2373T>CSNV Uncertain significance 312218 rs886050249 13:41386176-41386176 13:40812040-40812040
51 SLC25A15 NM_014252.4(SLC25A15):c.*2494G>ASNV Uncertain significance 312219 rs886050250 13:41386297-41386297 13:40812161-40812161
52 SLC25A15 NM_014252.4(SLC25A15):c.-101C>GSNV Uncertain significance 312173 rs886050239 13:41363768-41363768 13:40789632-40789632
53 SLC25A15 NM_014252.4(SLC25A15):c.*639G>ASNV Uncertain significance 312192 rs192586176 13:41384442-41384442 13:40810306-40810306
54 SLC25A15 NM_014252.4(SLC25A15):c.*640C>TSNV Uncertain significance 312193 rs763688411 13:41384443-41384443 13:40810307-40810307
55 SLC25A15 NM_014252.4(SLC25A15):c.*1319G>CSNV Uncertain significance 312198 rs886050242 13:41385122-41385122 13:40810986-40810986
56 SLC25A15 NM_014252.4(SLC25A15):c.862G>A (p.Glu288Lys)SNV Uncertain significance 645654 13:41383759-41383759 13:40809623-40809623
57 SLC25A15 NM_014252.3(SLC25A15):c.-273C>GSNV Uncertain significance 312169 rs541415883 13:41363596-41363596 13:40789460-40789460
58 SLC25A15 NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met)SNV Uncertain significance 547845 rs201902280 13:41379319-41379319 13:40805183-40805183
59 SLC25A15 NM_014252.4(SLC25A15):c.*1494A>GSNV Likely benign 312201 rs113342797 13:41385297-41385297 13:40811161-40811161
60 SLC25A15 NM_014252.4(SLC25A15):c.*1626A>GSNV Likely benign 312203 rs59670947 13:41385429-41385429 13:40811293-40811293
61 SLC25A15 NM_014252.4(SLC25A15):c.*1641G>TSNV Likely benign 312204 rs149457069 13:41385444-41385444 13:40811308-40811308
62 SLC25A15 NM_014252.4(SLC25A15):c.*684C>TSNV Likely benign 312194 rs111782657 13:41384487-41384487 13:40810351-40810351
63 SLC25A15 NM_014252.4(SLC25A15):c.*610G>TSNV Likely benign 312191 rs7320743 13:41384413-41384413 13:40810277-40810277
64 SLC25A15 NM_014252.4(SLC25A15):c.*420T>GSNV Likely benign 312188 rs75842883 13:41384223-41384223 13:40810087-40810087
65 SLC25A15 NM_014252.4(SLC25A15):c.789G>A (p.Thr263=)SNV Likely benign 391381 rs144478411 13:41383686-41383686 13:40809550-40809550
66 SLC25A15 NM_014252.4(SLC25A15):c.*929G>CSNV Likely benign 312197 rs17061602 13:41384732-41384732 13:40810596-40810596
67 SLC25A15 NM_014252.4(SLC25A15):c.*2097T>ASNV Likely benign 312213 rs17592947 13:41385900-41385900 13:40811764-40811764
68 SLC25A15 NM_014252.4(SLC25A15):c.*48T>ASNV Likely benign 312183 rs145530626 13:41383851-41383851 13:40809715-40809715
69 SLC25A15 NM_014252.4(SLC25A15):c.*159C>GSNV Likely benign 312185 rs9577153 13:41383962-41383962 13:40809826-40809826
70 SLC25A15 NM_014252.3(SLC25A15):c.-259G>CSNV Likely benign 312170 rs191621874 13:41363610-41363610 13:40789474-40789474
71 SLC25A15 NM_014252.4(SLC25A15):c.*1945G>ASNV Likely benign 312210 rs114817943 13:41385748-41385748 13:40811612-40811612
72 SLC25A15 NM_014252.4(SLC25A15):c.*1829_*1833AAAAG[2]short repeat Likely benign 312208 rs201178711 13:41385642-41385646 13:40811506-40811510
73 SLC25A15 NM_014252.4(SLC25A15):c.*898C>TSNV Likely benign 312196 rs12585190 13:41384701-41384701 13:40810565-40810565
74 SLC25A15 NM_014252.4(SLC25A15):c.117G>A (p.Thr39=)SNV Benign/Likely benign 139125 rs41396747 13:41373254-41373254 13:40799118-40799118
75 SLC25A15 NM_014252.4(SLC25A15):c.333C>T (p.Ala111=)SNV Benign/Likely benign 139126 rs9577152 13:41379272-41379272 13:40805136-40805136
76 SLC25A15 NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu)SNV Benign 139127 rs17849654 13:41382711-41382711 13:40808575-40808575
77 SLC25A15 NM_014252.4(SLC25A15):c.*515A>GSNV Benign 312189 rs7322603 13:41384318-41384318 13:40810182-40810182
78 SLC25A15 NM_014252.3(SLC25A15):c.-274T>CSNV Benign 312168 rs7997189 13:41363595-41363595 13:40789459-40789459
79 SLC25A15 NM_014252.4(SLC25A15):c.*1855C>ASNV Benign 312209 rs9566580 13:41385658-41385658 13:40811522-40811522
80 SLC25A15 NM_014252.4(SLC25A15):c.*353A>GSNV Benign 312187 rs9549293 13:41384156-41384156 13:40810020-40810020
81 SLC25A15 NM_014252.4(SLC25A15):c.*579C>TSNV Benign 312190 rs7321976 13:41384382-41384382 13:40810246-40810246
82 SLC25A15 NM_014252.4(SLC25A15):c.*2328G>TSNV Benign 312217 rs9577154 13:41386131-41386131 13:40811995-40811995

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

73 (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 11, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 SLC25A20 SLC25A2 SLC25A15 SLC25A13 OTC OAT
2
Show member pathways
13.46 SLC25A2 SLC25A15 OTC OAT NAGS CPS1
3
Show member pathways
11.96 OTC NAGS CPS1 ASS1 ASL ALDH18A1
4 11.61 OTC OAT CPS1 ASS1 ALDH18A1
5
Show member pathways
11.11 OAT ALDH18A1
6 11.1 CPS1 ASS1 ASL
7
Show member pathways
10.94 CPS1 CA5A
8
Show member pathways
10.77 OTC NAGS CPS1 ASS1 ASL
9
Show member pathways
10.57 ASS1 ASL
10
Show member pathways
10.55 OTC OAT NAGS CPS1 ASS1 ASL
11
Show member pathways
10.43 OAT 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 inner membrane GO:0005743 9.61 SLC25A29 SLC25A22 SLC25A20 SLC25A2 SLC25A15 SLC25A13
2 mitochondrial matrix GO:0005759 9.55 OTC OAT NAGS CPS1 CA5A
3 mitochondrion GO:0005739 9.44 SLC25A29 SLC25A22 SLC25A20 SLC25A2 SLC25A15 SLC25A13

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

(showing 23, show less)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.73 OTC CPS1 ASS1
2 response to amino acid GO:0043200 9.61 CPS1 ASS1
3 response to steroid hormone GO:0048545 9.61 CPS1 ASS1
4 response to zinc ion GO:0010043 9.61 OTC CPS1 ASS1
5 cellular response to glucagon stimulus GO:0071377 9.6 CPS1 ASS1
6 L-glutamate transmembrane transport GO:0015813 9.59 SLC25A22 SLC25A13
7 response to growth hormone GO:0060416 9.58 CPS1 ASS1
8 glutamate metabolic process GO:0006536 9.58 NAGS ALDH18A1
9 response to amine GO:0014075 9.57 CPS1 ASS1
10 aspartate transmembrane transport GO:0015810 9.55 SLC25A22 SLC25A13
11 cellular amino acid biosynthetic process GO:0008652 9.55 OTC OAT ASS1 ASL ALDH18A1
12 L-proline biosynthetic process GO:0055129 9.54 OAT ALDH18A1
13 midgut development GO:0007494 9.54 OTC CPS1 ASS1
14 L-aspartate transmembrane transport GO:0070778 9.52 SLC25A22 SLC25A13
15 acyl carnitine transmembrane transport GO:1902616 9.51 SLC25A29 SLC25A20
16 citrulline biosynthetic process GO:0019240 9.5 OTC CPS1 ALDH18A1
17 malate-aspartate shuttle GO:0043490 9.49 SLC25A22 SLC25A13
18 cellular response to oleic acid GO:0071400 9.48 CPS1 ASS1
19 arginine biosynthetic process via ornithine GO:0042450 9.46 OTC ASL
20 mitochondrial L-ornithine transmembrane transport GO:1990575 9.43 SLC25A29 SLC25A2 SLC25A15
21 anion homeostasis GO:0055081 9.4 OTC CPS1
22 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
23 urea cycle GO:0000050 9.17 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.54 SLC25A29 SLC25A22 SLC25A13
2 amino acid binding GO:0016597 9.32 OTC ASS1
3 L-glutamate transmembrane transporter activity GO:0005313 9.26 SLC25A22 SLC25A13
4 L-aspartate transmembrane transporter activity GO:0015183 9.16 SLC25A22 SLC25A13
5 acyl carnitine transmembrane transporter activity GO:0015227 8.96 SLC25A29 SLC25A20
6 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....