ORPHA:726703
Polydactyly-macrocephaly syndrome
Synonyms: MAX-related polydactyly-macrocephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polydactyly-macrocephaly syndrome | MAX-related polydactyly-macrocephaly syndrome |
| fr | Syndrome de polydactylie-macrocéphalie | Syndrome de polydactylie-macrocéphalie associé à MAX |
| de | Polydaktylie-Makrozephalie-Syndrom | MAX-assoziiertes Polydaktylie-Makrozephalie-Syndrom |
| es | Síndrome de polidactilia-macrocefalia | Síndrome de polidactilia-macrocefalia asociado al gen MAX |
| it | Sindrome polidattilia-macrocefalia | Sindrome polidattilia-macrocefalia correlata a MAX |
| nl | Polydactylie - macrocefalie-syndroom | MAX-gerelateerd polydactylie - macrocefalie-syndroom |
| pt | Polydactyly-Macrocephaly Syndrome | |
| pl | Polydactyly-macrocephaly syndrome | = en |
| cs | Polydactyly-macrocephaly syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620712 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAX | Disease-causing germline mutation(s) in | Assessed | HGNC:6913 | ENSG00000125952 | 154950 | 14q23.3 | MYC associated transcriptional regulator X | 38141607[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 38141607[PMID]_40799178[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38141607[PMID]_40799178[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.
6
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/726703
- This record as JSON: /data/d/726703.json