HHH SYNDROME
MCID: HYP774
MIFTS: 48

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH SYNDROME)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal 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 75 37 29 6
Hhh Syndrome 57 12 76 24 53 25 59 75 55 73
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 76
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
Inheritance:
autosomal recessive

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


HPO:

32
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


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: 415Disease definitionHyperornithinemia-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 urea cycle disorder and ornithinemia, and has symptoms including seizures, clonus and abnormal pyramidal signs. An important gene associated with Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome is SLC25A15 (Solute Carrier Family 25 Member 15), and among its related pathways/superpathways are Viral mRNA Translation and Carbon metabolism. Affiliated tissues include liver, testes and brain, and related phenotypes are intellectual disability and failure to thrive

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 to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

UniProtKB/Swiss-Prot : 75 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 : 76 Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)... more...

Description from OMIM: 238970
GeneReviews: NBK97260

Related Diseases for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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

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:
episodic vomiting
protein avoidance

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

Human phenotypes related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 frequent (33%) HP:0001249
2 failure to thrive 32 HP:0001508
3 clonus 32 HP:0002169
4 global developmental delay 32 HP:0001263
5 hepatomegaly 32 HP:0002240
6 decreased liver function 32 HP:0001410
7 generalized myoclonic seizures 32 HP:0002123
8 decreased nerve conduction velocity 32 HP:0000762
9 specific learning disability 32 HP:0001328
10 cerebral cortical atrophy 32 HP:0002120
11 coma 32 HP:0001259
12 acute hepatitis 32 HP:0200119
13 hypopigmentation of the fundus 32 HP:0007894
14 hyperammonemia 32 HP:0001987
15 lethargy 32 HP:0001254
16 generalized hypotonia 32 HP:0001290
17 poor coordination 32 HP:0002370
18 confusion 32 HP:0001289
19 impaired vibratory sensation 32 HP:0002495
20 spastic paraparesis 32 HP:0002313
21 episodic vomiting 32 HP:0002572
22 acute encephalopathy 32 HP:0006846
23 chorioretinal atrophy 32 very rare (1%) HP:0000533
24 morphological abnormality of the pyramidal tract 32 HP:0002062
25 protein avoidance 32 HP:0002038
26 hyperornithinemia 32 HP:0012026
27 abnormal pyramidal sign 32 HP:0007256

UMLS symptoms related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:


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

Drugs & Therapeutics for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Search Clinical Trials , 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, Testes, Brain, Cerebellum, Retina

Publications for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Articles related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

(show all 46)
# Title Authors Year
1
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 30058227 )
2018
2
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. ( 30243302 )
2018
3
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. ( 26589310 )
2016
4
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. ( 27161368 )
2016
5
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. ( 28062886 )
2016
6
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. ( 25411929 )
2015
7
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 25874378 )
2015
8
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. ( 25772141 )
2015
9
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein. ( 24721342 )
2014
10
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. ( 23806752 )
2013
11
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. ( 23247599 )
2013
12
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. ( 22292090 )
2012
13
Long-term follow-up of four patients affected by HHH syndrome. ( 22465082 )
2012
14
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. ( 22798168 )
2012
15
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 21059345 )
2011
16
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. ( 20574716 )
2010
17
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. ( 19287344 )
2009
18
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. ( 19242930 )
2009
19
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. ( 19683047 )
2009
20
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. ( 18376250 )
2008
21
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. ( 17825324 )
2008
22
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. ( 16376511 )
2006
23
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. ( 16940241 )
2006
24
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. ( 16601889 )
2006
25
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry. ( 17053917 )
2006
26
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. ( 12948741 )
2003
27
A novel mutation, P126R, in a Japanese patient with HHH syndrome. ( 11814739 )
2002
28
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. ( 11712419 )
2001
29
Clinical and molecular findings in hyperornithinemia-hyperammonemia- homocitrullinuria syndrome. ( 11552031 )
2001
30
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. ( 11355015 )
2001
31
HHH syndrome associated with callosal agenesis and disordered neuronal migration. ( 11409836 )
2001
32
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. ( 11764411 )
2001
33
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. ( 9329423 )
1997
34
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. ( 8739474 )
1996
35
Prenatal exclusion of the HHH syndrome. ( 7644438 )
1995
36
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( 8838382 )
1995
37
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome ( 22649802 )
1993
38
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis. ( 1438066 )
1992
39
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. ( 1469525 )
1992
40
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). ( 2288388 )
1990
41
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 3407856 )
1988
42
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( 3116497 )
1987
43
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. ( 3652557 )
1987
44
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( 3960284 )
1986
45
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 4080446 )
1985
46
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. ( 6441860 )
1984

Variations for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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

75 (show all 14)
# 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

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

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A15 NM_014252.3(SLC25A15): c.562_564delTTC (p.Phe188del) deletion Pathogenic rs202247803 GRCh37 Chromosome 13, 41381539: 41381541
2 SLC25A15 NM_014252.3(SLC25A15): c.562_564delTTC (p.Phe188del) deletion Pathogenic rs202247803 GRCh38 Chromosome 13, 40807403: 40807405
3 SLC25A15 NM_014252.3(SLC25A15): c.538G> A (p.Glu180Lys) single nucleotide variant Pathogenic rs104894424 GRCh37 Chromosome 13, 41381515: 41381515
4 SLC25A15 NM_014252.3(SLC25A15): c.538G> A (p.Glu180Lys) single nucleotide variant Pathogenic rs104894424 GRCh38 Chromosome 13, 40807379: 40807379
5 SLC25A15 NM_014252.3(SLC25A15): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs104894429 GRCh37 Chromosome 13, 41381512: 41381512
6 SLC25A15 NM_014252.3(SLC25A15): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs104894429 GRCh38 Chromosome 13, 40807376: 40807376
7 SLC25A15 NM_014252.3(SLC25A15): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic rs104894430 GRCh37 Chromosome 13, 41373216: 41373216
8 SLC25A15 NM_014252.3(SLC25A15): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic rs104894430 GRCh38 Chromosome 13, 40799080: 40799080
9 SLC25A15 NM_014252.3(SLC25A15): c.824G> A (p.Arg275Gln) single nucleotide variant Pathogenic rs104894431 GRCh37 Chromosome 13, 41383721: 41383721
10 SLC25A15 NM_014252.3(SLC25A15): c.824G> A (p.Arg275Gln) single nucleotide variant Pathogenic rs104894431 GRCh38 Chromosome 13, 40809585: 40809585
11 SLC25A15 NM_014252.3(SLC25A15): c.110T> G (p.Met37Arg) single nucleotide variant Pathogenic rs121908533 GRCh37 Chromosome 13, 41373247: 41373247
12 SLC25A15 NM_014252.3(SLC25A15): c.110T> G (p.Met37Arg) single nucleotide variant Pathogenic rs121908533 GRCh38 Chromosome 13, 40799111: 40799111
13 SLC25A15 NM_014252.3(SLC25A15): c.212T> A (p.Leu71Gln) single nucleotide variant Pathogenic rs121908534 GRCh37 Chromosome 13, 41373349: 41373349
14 SLC25A15 NM_014252.3(SLC25A15): c.212T> A (p.Leu71Gln) single nucleotide variant Pathogenic rs121908534 GRCh38 Chromosome 13, 40799213: 40799213
15 SLC25A15 NM_014252.3(SLC25A15): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs121908535 GRCh37 Chromosome 13, 41383712: 41383712
16 SLC25A15 NM_014252.3(SLC25A15): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs121908535 GRCh38 Chromosome 13, 40809576: 40809576
17 SLC25A15 NM_014252.3(SLC25A15): c.95C> G (p.Thr32Arg) single nucleotide variant Pathogenic rs121908536 GRCh37 Chromosome 13, 41373232: 41373232
18 SLC25A15 NM_014252.3(SLC25A15): c.95C> G (p.Thr32Arg) single nucleotide variant Pathogenic rs121908536 GRCh38 Chromosome 13, 40799096: 40799096
19 SLC25A15 NM_014252.3(SLC25A15): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs199894905 GRCh37 Chromosome 13, 41379276: 41379276
20 SLC25A15 NM_014252.3(SLC25A15): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs199894905 GRCh38 Chromosome 13, 40805140: 40805140
21 SLC25A15 NM_014252.3(SLC25A15): c.44C> A (p.Ala15Glu) single nucleotide variant Pathogenic rs202247806 GRCh37 Chromosome 13, 41367406: 41367406
22 SLC25A15 NM_014252.3(SLC25A15): c.44C> A (p.Ala15Glu) single nucleotide variant Pathogenic rs202247806 GRCh38 Chromosome 13, 40793270: 40793270
23 SLC25A15 NM_014252.3(SLC25A15): c.564C> G (p.Phe188Leu) single nucleotide variant Pathogenic rs141028076 GRCh37 Chromosome 13, 41381541: 41381541
24 SLC25A15 NM_014252.3(SLC25A15): c.564C> G (p.Phe188Leu) single nucleotide variant Pathogenic rs141028076 GRCh38 Chromosome 13, 40807405: 40807405
25 SLC25A15 NM_014252.3(SLC25A15): c.569G> A (p.Gly190Asp) single nucleotide variant Pathogenic rs202247804 GRCh37 Chromosome 13, 41381546: 41381546
26 SLC25A15 NM_014252.3(SLC25A15): c.569G> A (p.Gly190Asp) single nucleotide variant Pathogenic rs202247804 GRCh38 Chromosome 13, 40807410: 40807410
27 SLC25A15 NM_014252.3(SLC25A15): c.658G> A (p.Gly220Arg) single nucleotide variant Pathogenic rs202247805 GRCh37 Chromosome 13, 41382609: 41382609
28 SLC25A15 NM_014252.3(SLC25A15): c.658G> A (p.Gly220Arg) single nucleotide variant Pathogenic rs202247805 GRCh38 Chromosome 13, 40808473: 40808473
29 SLC25A15 NM_014252.3(SLC25A15): c.818T> A (p.Met273Lys) single nucleotide variant Pathogenic rs202247808 GRCh37 Chromosome 13, 41383715: 41383715
30 SLC25A15 NM_014252.3(SLC25A15): c.818T> A (p.Met273Lys) single nucleotide variant Pathogenic rs202247808 GRCh38 Chromosome 13, 40809579: 40809579
31 SLC25A15 NM_014252.3(SLC25A15): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs202247807 GRCh37 Chromosome 13, 41383720: 41383720
32 SLC25A15 NM_014252.3(SLC25A15): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs202247807 GRCh38 Chromosome 13, 40809584: 40809584
33 SLC25A15 NM_014252.3(SLC25A15): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs202247809 GRCh37 Chromosome 13, 41383744: 41383744
34 SLC25A15 NM_014252.3(SLC25A15): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs202247809 GRCh38 Chromosome 13, 40809608: 40809608
35 SLC25A15 NM_014252.3(SLC25A15): c.117G> A (p.Thr39=) single nucleotide variant Benign/Likely benign rs41396747 GRCh37 Chromosome 13, 41373254: 41373254
36 SLC25A15 NM_014252.3(SLC25A15): c.117G> A (p.Thr39=) single nucleotide variant Benign/Likely benign rs41396747 GRCh38 Chromosome 13, 40799118: 40799118
37 SLC25A15 NM_014252.3(SLC25A15): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs9577152 GRCh37 Chromosome 13, 41379272: 41379272
38 SLC25A15 NM_014252.3(SLC25A15): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs9577152 GRCh38 Chromosome 13, 40805136: 40805136
39 SLC25A15 NM_014252.3(SLC25A15): c.760A> T (p.Ile254Leu) single nucleotide variant Benign rs17849654 GRCh37 Chromosome 13, 41382711: 41382711
40 SLC25A15 NM_014252.3(SLC25A15): c.760A> T (p.Ile254Leu) single nucleotide variant Benign rs17849654 GRCh38 Chromosome 13, 40808575: 40808575
41 SLC25A15 NM_014252.3(SLC25A15): c.182G> A (p.Arg61His) single nucleotide variant Conflicting interpretations of pathogenicity rs34615430 GRCh38 Chromosome 13, 40799183: 40799183
42 SLC25A15 NM_014252.3(SLC25A15): c.182G> A (p.Arg61His) single nucleotide variant Conflicting interpretations of pathogenicity rs34615430 GRCh37 Chromosome 13, 41373319: 41373319
43 SLC25A15 NM_014252.3(SLC25A15): c.-274T> C single nucleotide variant Benign rs7997189 GRCh37 Chromosome 13, 41363595: 41363595
44 SLC25A15 NM_014252.3(SLC25A15): c.-274T> C single nucleotide variant Benign rs7997189 GRCh38 Chromosome 13, 40789459: 40789459
45 SLC25A15 NM_014252.3(SLC25A15): c.-101C> G single nucleotide variant Uncertain significance rs886050239 GRCh37 Chromosome 13, 41363768: 41363768
46 SLC25A15 NM_014252.3(SLC25A15): c.-101C> G single nucleotide variant Uncertain significance rs886050239 GRCh38 Chromosome 13, 40789632: 40789632
47 SLC25A15 NM_014252.3(SLC25A15): c.225C> T (p.Ile75=) single nucleotide variant Conflicting interpretations of pathogenicity rs765380976 GRCh38 Chromosome 13, 40799226: 40799226
48 SLC25A15 NM_014252.3(SLC25A15): c.225C> T (p.Ile75=) single nucleotide variant Conflicting interpretations of pathogenicity rs765380976 GRCh37 Chromosome 13, 41373362: 41373362
49 SLC25A15 NM_014252.3(SLC25A15): c.*420T> G single nucleotide variant Likely benign rs75842883 GRCh38 Chromosome 13, 40810087: 40810087
50 SLC25A15 NM_014252.3(SLC25A15): c.*420T> G single nucleotide variant Likely benign rs75842883 GRCh37 Chromosome 13, 41384223: 41384223

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 AASS CPS1 NAGS OAT OTC SLC25A15
2
Show member pathways
11.82 CPS1 NAGS OTC
3 11.39 CPS1 OAT OTC
4
Show member pathways
10.55 CPS1 NAGS OTC
5
Show member pathways
10.3 CPS1 NAGS OAT OTC

GO Terms for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.55 CPS1 OTC SLC25A15 SLC25A2 SLC25A29
2 mitochondrial matrix GO:0005759 9.35 AASS CPS1 NAGS OAT OTC
3 mitochondrion GO:0005739 9.32 AASS CLIC1 CPS1 LIG3 NAGS OAT

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

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.43 OAT OTC
2 response to zinc ion GO:0010043 9.4 CPS1 OTC
3 midgut development GO:0007494 9.37 CPS1 OTC
4 arginine biosynthetic process GO:0006526 9.33 CPS1 NAGS OTC
5 citrulline biosynthetic process GO:0019240 9.32 CPS1 OTC
6 anion homeostasis GO:0055081 9.26 CPS1 OTC
7 mitochondrial L-ornithine transmembrane transport GO:1990575 9.13 SLC25A15 SLC25A2 SLC25A29
8 urea cycle GO:0000050 9.02 CPS1 NAGS OTC SLC25A15 SLC25A2

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

# Name GO ID Score Top Affiliating Genes
1 L-ornithine transmembrane transporter activity GO:0000064 8.62 SLC25A15 SLC25A2

Sources for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

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