MCID: HYP774
MIFTS: 47

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic 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 hyperlysinemia, type i, and has symptoms including clonus, lethargy and muscle spasticity. 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

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.

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.

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.

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 26)
# 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 abnormal pyramidal signs 32 HP:0007256
5 global developmental delay 32 HP:0001263
6 hepatomegaly 32 HP:0002240
7 decreased liver function 32 HP:0001410
8 generalized myoclonic seizures 32 HP:0002123
9 decreased nerve conduction velocity 32 HP:0000762
10 specific learning disability 32 HP:0001328
11 cerebral cortical atrophy 32 HP:0002120
12 coma 32 HP:0001259
13 acute hepatitis 32 HP:0200119
14 hypopigmentation of the fundus 32 HP:0007894
15 hyperammonemia 32 HP:0001987
16 lethargy 32 HP:0001254
17 poor coordination 32 HP:0002370
18 generalized hypotonia 32 HP:0001290
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

UMLS symptoms related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:


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

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

Publications for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Articles related to Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome:

(show all 27)
# Title Authors Year
1
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. ( 25411929 )
2015
2
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 25874378 )
2015
3
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. ( 23806752 )
2013
4
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. ( 22292090 )
2012
5
Long-term follow-up of four patients affected by HHH syndrome. ( 22465082 )
2012
6
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. ( 22798168 )
2012
7
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 21059345 )
2011
8
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. ( 20574716 )
2010
9
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
10
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. ( 19242930 )
2009
11
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. ( 19683047 )
2009
12
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. ( 18376250 )
2008
13
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. ( 17825324 )
2008
14
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. ( 16376511 )
2006
15
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. ( 16940241 )
2006
16
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. ( 16601889 )
2006
17
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
18
A novel mutation, P126R, in a Japanese patient with HHH syndrome. ( 11814739 )
2002
19
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. ( 11712419 )
2001
20
Clinical and molecular findings in hyperornithinemia-hyperammonemia- homocitrullinuria syndrome. ( 11552031 )
2001
21
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. ( 11355015 )
2001
22
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. ( 9329423 )
1997
23
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome ( 22649802 )
1993
24
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 3407856 )
1988
25
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( 3116497 )
1987
26
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. ( 3652557 )
1987
27
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 4080446 )
1985

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
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
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 146)
# 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.182G> A (p.Arg61His) single nucleotide variant Conflicting interpretations of pathogenicity rs34615430 GRCh38 Chromosome 13, 40799183: 40799183
36 SLC25A15 NM_014252.3(SLC25A15): c.182G> A (p.Arg61His) single nucleotide variant Conflicting interpretations of pathogenicity rs34615430 GRCh37 Chromosome 13, 41373319: 41373319
37 SLC25A15 NM_014252.3(SLC25A15): c.-274T> C single nucleotide variant Benign rs7997189 GRCh37 Chromosome 13, 41363595: 41363595
38 SLC25A15 NM_014252.3(SLC25A15): c.-274T> C single nucleotide variant Benign rs7997189 GRCh38 Chromosome 13, 40789459: 40789459
39 SLC25A15 NM_014252.3(SLC25A15): c.-101C> G single nucleotide variant Uncertain significance rs886050239 GRCh37 Chromosome 13, 41363768: 41363768
40 SLC25A15 NM_014252.3(SLC25A15): c.-101C> G single nucleotide variant Uncertain significance rs886050239 GRCh38 Chromosome 13, 40789632: 40789632
41 SLC25A15 NM_014252.3(SLC25A15): c.225C> T (p.Ile75=) single nucleotide variant Conflicting interpretations of pathogenicity rs765380976 GRCh38 Chromosome 13, 40799226: 40799226
42 SLC25A15 NM_014252.3(SLC25A15): c.225C> T (p.Ile75=) single nucleotide variant Conflicting interpretations of pathogenicity rs765380976 GRCh37 Chromosome 13, 41373362: 41373362
43 SLC25A15 NM_014252.3(SLC25A15): c.*420T> G single nucleotide variant Likely benign rs75842883 GRCh38 Chromosome 13, 40810087: 40810087
44 SLC25A15 NM_014252.3(SLC25A15): c.*420T> G single nucleotide variant Likely benign rs75842883 GRCh37 Chromosome 13, 41384223: 41384223
45 SLC25A15 NM_014252.3(SLC25A15): c.*515A> G single nucleotide variant Benign rs7322603 GRCh38 Chromosome 13, 40810182: 40810182
46 SLC25A15 NM_014252.3(SLC25A15): c.*515A> G single nucleotide variant Benign rs7322603 GRCh37 Chromosome 13, 41384318: 41384318
47 SLC25A15 NM_014252.3(SLC25A15): c.*610G> T single nucleotide variant Likely benign rs7320743 GRCh38 Chromosome 13, 40810277: 40810277
48 SLC25A15 NM_014252.3(SLC25A15): c.*610G> T single nucleotide variant Likely benign rs7320743 GRCh37 Chromosome 13, 41384413: 41384413
49 SLC25A15 NM_014252.3(SLC25A15): c.*639G> A single nucleotide variant Uncertain significance rs192586176 GRCh38 Chromosome 13, 40810306: 40810306
50 SLC25A15 NM_014252.3(SLC25A15): c.*639G> A single nucleotide variant Uncertain significance rs192586176 GRCh37 Chromosome 13, 41384442: 41384442

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
13.26 AASS CPS1 NAGS OAT OTC SLC25A15
2
Show member pathways
11.82 CPS1 NAGS OTC
3 11.29 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial transport GO:0006839 9.61 SLC25A15 SLC25A2 SLC25A29
2 cellular amino acid biosynthetic process GO:0008652 9.49 OAT OTC
3 response to zinc ion GO:0010043 9.48 CPS1 OTC
4 midgut development GO:0007494 9.46 CPS1 OTC
5 citrulline biosynthetic process GO:0019240 9.4 CPS1 OTC
6 primary metabolic process GO:0044238 9.37 CPS1 OTC
7 carnitine transport GO:0015879 9.33 SLC25A15 SLC25A2 SLC25A29
8 anion homeostasis GO:0055081 9.32 CPS1 OTC
9 mitochondrial L-ornithine transmembrane transport GO:1990575 9.26 SLC25A15 SLC25A29
10 arginine biosynthetic process GO:0006526 9.13 CPS1 NAGS OTC
11 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 transmembrane transporter activity GO:0022857 9.43 SLC25A15 SLC25A2 SLC25A29
2 L-ornithine transmembrane transporter activity GO:0000064 9.16 SLC25A15 SLC25A2
3 carnitine transmembrane transporter activity GO:0015226 8.96 SLC25A15 SLC25A2
4 carnitine:acyl carnitine antiporter activity GO:0005476 8.62 SLC25A15 SLC25A2

Sources for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....