IllnessUrea cyle disorders, hyperammonemia; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Hyperammonemia comprising 7 core/guideline-curated and altogether 44 curated genes according to the clinical signs
ID
HP8989
Number of genes
42
Accredited laboratory test
Examined sequence length
18,6 kb (Core-/Core-canditate-Genes)
70,0 kb (Extended panel: incl. additional genes)
70,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ACADM | 1266 | AR | |
ACADVL | 1968 | AR | |
ARG1 | 969 | AR | |
ASL | 1395 | AR | |
ASS1 | 1239 | AR | |
CPS1 | 4503 | AR | |
NAGS | 1605 | AR | |
OAT | 1320 | AR | |
OTC | 1065 | XLR | |
SERAC1 | 1965 | AR | |
SLC25A15 | 906 | AR | |
TMEM70 | 324 | AR | |
ALDH18A1 | 2388 | AR | |
AUH | 1020 | AR | |
BCKDHA | 1338 | AR | |
BCKDHB | 1179 | AR | |
CA5A | 918 | AR | |
CPT1A | 2322 | AR | |
CPT2 | 1977 | AR | |
DBT | 1449 | AR | |
ETFA | 1002 | AR | |
ETFB | 768 | AR | |
ETFDH | 1854 | AR | |
GLUD1 | 1677 | AD | |
HADHA | 2292 | AR | |
HADHB | 1425 | AR | |
HLCS | 2181 | AR | |
HMGCL | 978 | AR | |
IVD | 1182 | AR | |
MLYCD | 1482 | AR | |
MMAA | 1257 | AR | |
MMAB | 753 | AR | |
MMUT | 2253 | AR | |
PC | 3537 | AR | |
PCCA | 2187 | AR | |
PCCB | 1620 | AR | |
POLG | 3720 | AR | |
PYGM | 2529 | AR | |
SLC22A5 | 1674 | AR | |
SLC25A13 | 2031 | AR | |
SLC25A20 | 906 | AR | |
SLC7A7 | 1536 | AR |
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
E72.2
Bioinformatics and clinical interpretation
No text defined