Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Synonyms: HPDL-related Leigh-like encephalopathy · HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome | HPDL-related Leigh-like encephalopathy · HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome |
| fr | Syndrome de neurodégénération infantile-spasticité progressive-déficience intellectuelle-lésions de la substance blanche | Encéphalopathie de type Leigh liée à HPDL · Syndrome de neurodégénération infantile-spasticité progressive-déficience intellectuelle-lésions de la substance blanche lié à HPDL |
| de | Infantile Neurodegeneration-progressive Spastik-Intelligenzminderung-Läsionen der weißen Substanz-Syndrom | HPDL-assoziierte Leigh-ähnliche Enzephalopathie · HPDL-assoziierte infantile Neurodegeneration mit progressiver Spastik, Intelligenzminderung und Läsionen der weißen Substanz |
| es | Síndrome infantil de neurodegeneración-espasticidad progresiva-discapacidad intelectual-lesiones de la sustancia blanca | Encefalopatía similar a Leigh asociada a HPDL · Encefalopatía similar a Leigh asociada al gen HPDL · Síndrome infantil de neurodegeneración-espasticidad progresiva-discapacidad intelectual-lesiones de la sustancia blanca asociado a HPDL · Síndrome infantil de neurodegeneración-espasticidad progresiva-discapacidad intelectual-lesiones de la sustancia blanca asociado al gen HPDL |
| it | Sindrome degenerazione neurologica infantile-spasticità progressiva-disabilità intellettiva-lesioni della sostanza bianca | Encefalopatia simil-Leigh correlata a HPDL · Sindrome degenerazione neurologica infantile-spasticità progressiva-disabilità intellettiva-lesioni della sostanza bianca correlata a HPDL |
| nl | Infantiele neurodegeneratie - progressieve spasticiteit - intellectuele achterstand - laesies van witte stof-syndroom | HPDL-gerelateerd infantiele neurodegeneratie - progressieve spasticiteit - intellectuele achterstand - laesies van witte stof-syndroom · HPDL-gerelateerde Leigh-achtige encefalopathie |
| pt | Síndrome de neurodegeneração infantil-espasticidade progressiva-perturbação do desenvolvimento intelectual-lesões da substância branca | Encefalopatia Leigh-like HPDL-relacionada · Síndrome de neurodegeneração infantil-espasticidade progressiva-perturbação do desenvolvimento intelectual-lesões da substância branca HPDL-relacionada |
| pl | Zespół niemowlęcej neurodegeneracji - postępującej spastyczności - niepełnosprawności intelektualnej ze zmianami w istocie białej | = en |
| cs | Syndrom zahrnující neurodegeneraci, progresivní spasticitu, mentální retardaci a léze bílé hmoty projevující se v dětském věku | = en |
| uk | Інфантильний синдром нейродегенерації-прогресуючої спастичності-інтелектуальної недостатності-ураження білої речовини | HPDL-повязаний синдром дитячої нейродегенерації-прогресуючої спастичності-інтелектуальної недостатності- ураження білої речовини · Лі-подібна енцефалопатія, повязана з HPDL |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619026 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0033613 | E | validated | |
| UMLS | C5816791 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPDL | Disease-causing germline mutation(s) in | Assessed | HGNC:28242 | ENSG00000186603 | 618994 | 1p34.1 | 4-hydroxyphenylpyruvate dioxygenase like | 33188300[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 35985664[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35985664[PMID]_ORPHANET |
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/641353
- This record as JSON: /data/d/641353.json