ORPHA:619979
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | |
| fr | Syndrome de retard du développement-immunodéficience-leucoencéphalopathie-hypohomocystéinémie | |
| de | Entwicklungsverzögerung-Immundefekt-Leukoenzephalopathie-Hypohomocysteinämie-Syndrom | |
| es | Síndrome de retraso del desarrollo-inmunodeficiencia-leucoencefalopatía-hipohomocisteinemia | |
| it | Sindrome da ritardo dello sviluppo, immunodeficienza, leucoencefalopatia e ipo-omocisteinemia | |
| nl | Ontwikkelingsachterstand - immuundeficiëntie - leuko-encefalopathie - hypohomocysteïnemie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento-imunodeficiência-leucoencefalopatia-hipohomocistinémia | |
| pl | Zespół opóźnienia rozwoju-niedoboru odporności-leukoencefalopatii-hipohomocysteinemii | |
| cs | Syndrom zahrnující opožděný vývoj, imunodeficienci, leukoencefalopatii a hypohomocysteinémii | |
| uk | Синдром затримки розвитку-імунодефіциту-лейкоенцефалопатії-гіпогомоцистеїнемії |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617744 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.5 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | attributed | validated |
| MONDO | 0850071 | E | validated | |
| UMLS | C5681830 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFE2L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7782 | ENSG00000116044 | 600492 | 2q31.2 | NFE2 like bZIP transcription factor 2 | 31953710[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 29018201[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29018201[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619979
- This record as JSON: /data/d/619979.json