ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Synonyms: Martsolf-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | Martsolf-like syndrome |
| fr | Trouble neurologique létal infantile avec cataracte et atteinte cardiaque associé à ITPA | Syndrome de Martsolf-like |
| de | ITPA-assoziierte letale infantile neurologische Störung mit Katarakt und kardialer Beteiligung | Martsolf-ähnliches-Syndrom |
| es | Trastorno neurológico con cataratas y afectación cardíaca letal infantil asociado al gen ITPA | Síndrome similar a Martsolf |
| it | Encefalopatia correlata a ITPA | |
| nl | ITPA-gerelateerde letale infantiele neurologische stoornis met cataract en cardiale betrokkenheid | Martsolf-achtig syndroom |
| pt | Doença neurológica com catarata e envolvimento cardíaco letal da infância ITPA-relacionada | Síndrome Martsolf-like |
| pl | Encefalopatia związana z ITPA | = en |
| cs | ITPA-vázaná encefalopatie | = en |
| uk | Летальний інфантильний неврологічний розлад, повязаний з ITPA, з катарактою та ураженням серця | Синдром Марцольфа |
| zh | ITPA相关的致命性婴儿期神经系统疾病伴白内障和心脏疾病 | 马尔索夫样综合征 |
| tr | Katarakt ve kalp tutulumu ile seyreden ITPA-ilişkili letal infantil nörolojik bozukluk | Martsolf-ilişkili sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616647 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | KB0Y | NTBT | attributed | validated |
| MONDO | 0014719 | E | validated | |
| UMLS | C4225256 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITPA | Disease-causing germline mutation(s) in | Assessed | HGNC:6176 | ENSG00000125877 | 147520 | 20p13 | inosine triphosphatase | 26224535[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26224535[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26224535[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457375
- This record as JSON: /data/d/457375.json