ORPHA:33445
Neuroectodermal melanolysosomal disease
Synonyms: Elejalde neuroectodermal melanolysosomal disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuroectodermal melanolysosomal disease | Elejalde neuroectodermal melanolysosomal disease |
| fr | Maladie neuroectodermique mélanolysosomale | Maladie neuroectodermique mélanolysosomale d'Elejalde |
| de | Neuroektodermale melanolysosomale Krankheit | Elejalde-Krankheit |
| es | Enfermedad neuroectodérmica melanolisosomal | Enfermedad neuroectodérmica melanolisosomal de Elejalde |
| it | Malattia neuroectodermica melanolisosomiale | Malattia neuroectodermica melanolisosomiale di Elejalde |
| nl | Neuro-ectodermale melanolysosomale ziekte | Neuro-ectodermale melanolysosomale ziekte van Elejalde |
| pt | Doença melanolisossomal neuroectodérmica | Doença melano-lisossomal neuroectodérmica Elejalde |
| pl | Neuroektodermalna choroba melanolizosomalna | Choroba Elejalde |
| cs | Neuroektodermální melanolysosomální onemocnění | Elejaldova choroba |
| uk | Нейроектодермальна меланолізосомальна хвороба | Нейроектодермальна меланолізосомальна хвороба Елейнда |
| zh | 神经外胚层黑色素溶酶体病 | Elejalde病 |
| tr | Nöroektodermal melanolizozomal hastalık | Elejalde hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256710 | E | validated | |
| ICD-10 | L81.4 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0009742 | E | validated | |
| MeSH | C536203 | E | validated | |
| UMLS | C1860157 | 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 (7):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO5A | Disease-causing germline mutation(s) in | Assessed | HGNC:7602 | ENSG00000197535 | 160777 | 15q21.2 | myosin VA |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 474620[PMID]_10052404[PMID]_11170073[PMID]_17710870[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
29 annotations · validated 2017-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001263 | Global developmental delay | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002216 | Premature graying of hair | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000545 | Myopia | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0008059 | Aplasia/Hypoplasia of the macula | |
| HP:0001251 | Ataxia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0001276 | Hypertonia | |
| HP:0007754 | Macular dystrophy | |
| HP:0003552 | Muscle stiffness | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0012157 | Subcortical cerebral atrophy | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33445
- This record as JSON: /data/d/33445.json