ORPHA:88618
S-adenosylhomocysteine hydrolase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already <i>in utero</i> or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | S-adenosylhomocysteine hydrolase deficiency | |
| fr | Déficit en S-adénosylhomocystéine hydrolase | |
| de | S-Adenosylhomocystein-Hydrolase-Defizienz | |
| es | Deficiencia de S-adenosilhomocisteína hidrolasa | |
| it | Deficit di S-adenosilomocisteina idrolasi | |
| nl | Deficiëntie van S-adenosylhomocysteïnehydrolase | |
| pt | Deficiência de S-adenosil-homocisteína hidrolase | |
| pl | Niedobó hydrolazy S-adenozylohomocysteiny | Hipermetioninemia spowodowana niedoborem hydrolazy S-adenozylolhomocysteiny |
| cs | Psychomotorická retardace způsobená deficitem S-adenosylhomocystein hydrolázy | Hypermethioninemie způsobená deficitem S-adenosylhomocystein hydrolázy |
| uk | Дефіцит S-аденозилгомоцистеїн гідролази | |
| zh | s-腺苷半胱氨酸水解酶缺乏所致精神运动迟缓 | S-腺苷高半胱氨酸水解酶所致高蛋氨酸血症 |
| tr | S-adenosilhomosistein hidrolaz eksikliğine bağlı psikomotor gecikme | S-adenozilhomosistein hidrolaz eksikliğine bağlı hipermetiyoninemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613752 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0013404 | E | validated | |
| UMLS | C3151058 | E | validated | |
| GARD | 13177 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AHCY | Disease-causing germline mutation(s) in | Assessed | HGNC:343 | ENSG00000101444 | 180960 | 20q11.22 | adenosylhomocysteinase | 16435181[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 2380820[PMID]_15024124[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2380820[PMID]_15024124[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2019-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010919 | Abnormality of homocysteine metabolism | |
| HP:0010901 | Abnormality of methionine metabolism | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0003073 | Hypoalbuminemia | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000708 | Atypical behavior | |
| HP:0003429 | CNS hypomyelination | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0012448 | Delayed myelination | |
| HP:0002376 | Developmental regression | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0011996 | Elevated coagulation factor V activity | |
| HP:0000565 | Esotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001789 | Hydrops fetalis | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0003560 | Muscular dystrophy | |
| HP:0002421 | Poor head control | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0008169 | Reduced factor VII activity | |
| HP:0000736 | Short attention span | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0003235 | Hypermethioninemia | |
| HP:0000252 | Microcephaly | |
| HP:0001324 | Muscle weakness | |
| HP:0001763 | Pes planus | |
| HP:0002878 | Respiratory failure | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002119 | Ventriculomegaly | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 2380820[PMID]_28168361[PMID]_27671891[PMID]_26527160[PMID]_15024124[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88618
- This record as JSON: /data/d/88618.json