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IllnessUrea cyle disorders, hyperammonemia; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hyperammonemia containing 7 guideline-curated core genes and altogether 44 curated genes according to the clinical signs

ID
HP8989
Number of loci
Locus typeCount
Gen 43
Accredited laboratory test
Examined sequence length
18,6 kb (Core-/Core-canditate-Genes)
71,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACADM1266NM_000016.6AR
ACADVL1968NM_000018.4AR
ARG1969NM_000045.4AR
ASL1395NM_000048.4AR
ASS11239NM_000050.4AR
CPS14503NM_001122633.3AR
NAGS1605NM_153006.3AR
OAT1320NM_000274.4AR
OTC1065NM_000531.6XLR
SERAC11965NM_032861.4AR
SLC25A15906NM_014252.4AR
TMEM70324NM_001040613.3AR
ALDH18A12388NM_002860.4AR
AUH1020NM_001698.3AR
BCKDHA1338NM_000709.4AR
BCKDHB1179NM_000056.5AR
CA5A918NM_001739.2AR
CPT1A2322NM_001876.4AR
CPT21977NM_000098.3AR
DBT1449NM_001918.5AR
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
GALT1140NM_000155.4AR
GLUD11677NM_005271.5AD
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
HLCS2181NM_000411.8AR
HMGCL978NM_000191.3AR
IVD1182NM_001159508.3AR
MLYCD1482NM_012213.3AR
MMAA1257NM_172250.3AR
MMAB753NM_052845.4AR
MMUT2253NM_000255.4AR
PC3537NM_000920.4AR
PCCA2187NM_000282.4AR
PCCB1620NM_000532.5AR
POLG3720NM_002693.3AR
PYGM2529NM_005609.4AR
SLC22A51674NM_003060.4AR
SLC25A132031NM_001160210.2AR
SLC25A20906NM_000387.6AR
SLC7A71536NM_001126105.3AR

Informations about the disease

Synonyms
  • Alias: Hyperammonemia
  • Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
  • Argininemia (ARG1)
  • Argininosuccinic aciduria (ASL)
  • CPT II deficiency, infantile (CPT2)
  • CPT II deficiency, lethal neonatal (CPT2)
  • CPT II deficiency, myopathic, stress-induced (CPT2)
  • CPT deficiency, hepatic, type IA (CPT1A)
  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
  • Citrullinemia (ASS1)
  • Citrullinemia, adult-onset type II (SLC25A13)Citrullinemia, type II, neonatal-onset (SLC25A13)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Fatty liver, acute, of pregnancy (HADHA)
  • Galactosemia (GALT)
  • Glutaric acidemia IIA (ETFA)
  • Glutaric acidemia IIB (ETFB)
  • Glutaric acidemia IIC (ETFDH)
  • Gyrate atrophy of choroid and retina with or without ornithinemia (OAT)
  • HELLP syndrome, maternal, of pregnancy (HADHA)
  • HMG-CoA lyase deficiency (HMGCL)
  • Holocarboxylase synthetase deficiency (HLCS)
  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
  • Isovaleric acidemia (IVD)
  • LCHAD deficiency (HADHA)
  • Lysinuric protein intolerance (SLC7A7)
  • Malonyl-CoA decarboxylase deficiency (MLYCD)
  • Maple syrup urine disease, type II (DBT)
  • Maple syrup urine disease, type Ia (BCKDHA)
  • Maple syrup urine disease, type Ib (BCKDHB)
  • McArdle disease (PYGM)
  • Methylmalonic aciduria, mut(0) type (MMUT)
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
  • Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Mitochondrial trifunctional protein deficiency (HADHA)
  • N-acetylglutamate synthase deficiency (NAGS)
  • Ornithine transcarbamylase deficiency (OTC)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Propionicacidemia (PCCA, PCCB)
  • Pyruvate carboxylase deficiency (PC)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia 9B, AR ALD18A1)
  • Trifunctional protein deficiency (HADHB)
  • Tyrosinemia, type I (FAH)
  • VLCAD deficiency (ACADVL)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined