ORPHA:2028
Juvenile hyaline fibromatosis
Synonyms: Murray-Puretic-Drescher syndrome · Puretic syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile hyaline fibromatosis | Murray-Puretic-Drescher syndrome · Puretic syndrome |
| fr | Fibromatose hyaline juvénile | Syndrome de Murray-Puretic-Drescher · Syndrome de Puretic |
| de | Fibromatose, hyaline juvenile | Murray-Puretic-Drescher-Syndrom · Puretic-Syndrom |
| es | Fibromatosis hialina juvenil | Síndrome de Murray-Puretic-Drescher |
| it | Fibromatosi ialina giovanile | Sindrome di Murray-Puretic-Drescher · Sindrome di Puretic |
| nl | Juveniele hyaliene fibromatose | Syndroom van Murray-Puretic-Drescher · Syndroom van Puretic |
| pt | Juvenile hyaline fibromatosis | Síndrome Puretic |
| pl | Włókniakowatość hialinowa młodzieńcza | Zespół Murray, Puretica i Dreschera · Zespół Puretica |
| cs | Juvenilní hyalinní fibromatóza | Murrayův-Pureticův-Drescherův syndrom · Pureticův syndrom · Murray-Puretic-Drescherův syndrom |
| uk | Ювенільний гіаліновий фіброматоз | Синдром Мюррея-Пюре-Дрешера · Пуритативний синдром |
| zh | 幼年性透明性纤维瘤病 | Murray-Puretic-Drescher综合征 |
| tr | Jüvenil hiyalin fibromatozu | Puretic sendromu · Murray-Puretic-Drescher sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228600 | NTBT | validated | |
| ICD-10 | M72.8 | NTBT | attributed | validated |
| ICD-11 | EE6Y | NTBT | index | validated |
| MONDO | 0016071 | E | validated | |
| MeSH | D057770 | E | validated | |
| UMLS | C2745948 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:498474Hyaline fibromatosis syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANTXR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21732 | ENSG00000163297 | 608041 | 4q21.21 | ANTXR cell adhesion molecule 2 | 14508707[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | DOI: 10.1016/j.jdds.2014.06.003[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI: 10.1016/j.jdds.2014.06.003[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0001595 | Abnormality of the hair | |
| HP:0200034 | Papule | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0001522 | Death in infancy | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001387 | Joint stiffness | |
| HP:0002797 | Osteolysis | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2028
- This record as JSON: /data/d/2028.json