Mosaic neurofibromatosis type 1
Synonyms: MNF1 · Mosaic NF1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic neurofibromatosis type 1 | MNF1 · Mosaic NF1 |
| fr | Neurofibromatose type 1 mosaïque | Neurofibromatose 1 mosaïque · NF1 mosaïque |
| de | Mosaik-Neurofibromatose Typ 1 | MNF1 · Mosaik-NF1 |
| es | Neurofibromatosis tipo 1 en mosaico | MNF1 · NF1 en mosaico |
| it | Neurofibromatosi in mosaico tipo 1 | MNF1 · NF1 in mosaico |
| nl | Mozaïek neurofibromatose type 1 | MNF1 · Mozaïek NF1 |
| pt | Neurofibromatose em mosaico tipo 1 | MNF1 · NF1 em mosaico |
| pl | Mozaikowa postać neurofibromatozy typu 1 | = en |
| cs | Mozaiková neurofibromatóza, typ 1 | = en |
| uk | Мозаїчний нейрофіброматоз, тип 1 | MNF1 · Мозаїчний NF1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD2D.1Y | NTBT | attributed | validated |
| MONDO | 0859763 | E | validated | |
| UMLS | C5782097 | 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:634518Neurofibromatosis/schwannomatosis
rare genetic diseases; rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 34012067[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 20301288[PMID]_29215653[PMID] |
| Point prevalence | 1-5 / 10 000 | 24.4618 / 100 000 | Finland | Value and class | Validated | 29215653[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/634461
- This record as JSON: /data/d/634461.json