Hyaline fibromatosis syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, protein-losing enteropathy, increased susceptibility to infections, and severe failure to thrive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyaline fibromatosis syndrome | |
| fr | Fibromatose hyaline | |
| de | Hyaline Fibromatose-Syndrom | |
| es | Síndrome de fibromatosis hialina | |
| it | Fibromatosi ialina | |
| nl | Hyaliene fibromatose syndroom | |
| pt | Síndrome de fibromatose hialina | |
| pl | Zespół fibromatozy hialinowej | |
| cs | Hyalinní fibromatóza | |
| uk | Синдром гіалінового фіброматозу | |
| zh | 透明质纤维瘤病综合征 | |
| tr | Hiyalin fibromatoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EE6Y | NTBT | attributed | validated |
| MONDO | 0009229 | E | validated | |
| UMLS | C5574677 | 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 (2):
- ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ANTXR2 | ORPHA:2028Juvenile hyaline fibromatosis | Disease-causing germline mutation(s) in | Assessed | HGNC:21732 | ENSG00000163297 | 608041 | 4q21.21 | ANTXR cell adhesion molecule 2 | 14508707[PMID] |
| ANTXR2 | ORPHA:2176Infantile systemic hyalinosis | Disease-causing germline mutation(s) in | Assessed | HGNC:21732 | ENSG00000163297 | 608041 | 4q21.21 | ANTXR cell adhesion molecule 2 | 14508707[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 25186005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25186005[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/498474
- This record as JSON: /data/d/498474.json