ORPHA:2128
Isolated hemihyperplasia
Synonyms: Hemi 3 syndrome · Hemicorporal hypertrophy · Isolated hemihypertrophy
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated hemihyperplasia | Hemi 3 syndrome · Hemicorporal hypertrophy · Isolated hemihypertrophy |
| fr | Hémihyperplasie isolée | Hypertrophie hémicorporelle · Hémihypertrophie isolée · Syndrome hémi 3 |
| de | Hemihyperplasie, isolierte | Hemi 3-Syndrom · Hemihypertrophie, isolierte |
| es | Hemihiperplasia aislada | Hemihipertrofia aislada · Hipertrofia hemicorporal · Síndrome hemi 3 |
| it | Emi-iperplasia isolata | Emi-ipertrofia isolata · Ipertrofia dell'emicorpo · Sindrome emi 3 |
| nl | Geïsoleerde hemihyperplasie | Geïsoleerde hemihypertrofie · Hemi 3-syndroom · Hemicorporale hypertrofie |
| pt | Hemihiperplasia isolada | Síndrome Hemi 3 |
| pl | Izolowany przerost połowiczy | Izolowana hemihipertrofia · Przerost połowy ciała · Zespół Hemi 3 |
| cs | Izolovaná hemihyperplázie | Hemi-3-syndrom · Hemikorporální hypertrofie · Izolovaná hemihypertrofie |
| uk | Ізольована гемігіперплазія | Синдром Hemi 3 · Гемокорпоральна гіпертрофія · Ізольована гемігіпертрофія |
| zh | 孤立型偏侧发育过度 | 孤立型偏身肥大症 |
| tr | İzole hemihiperplazi | Hemi 3 sendromu · Hemicorporal hipertrofi · İzole hemihipertrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235000 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0009331 | E | validated | |
| MeSH | C565524 | E | validated | |
| UMLS | C1856184 | E | validated | |
| GARD | 2630 | E | validated | |
| MedDRA | 10019463 | 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:156207Macroglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H19 | Disease-causing germline mutation(s) in | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 15651076[PMID]_16532391[PMID]_18159214[PMID] |
| IGF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5466 | ENSG00000167244 | 147470 | 11p15.5 | insulin like growth factor 2 | 18159214[PMID] |
| KCNQ1OT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6295 | ENSG00000269821 | 604115 | 11p15.5 | KCNQ1 opposite strand/antisense transcript 1 | 15651076[PMID]_16770802[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 30645194[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 30645194[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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001555 | Asymmetry of the thorax | |
| HP:0001528 | Hemihypertrophy | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000324 | Facial asymmetry | |
| HP:0001256 | Intellectual disability, mild | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000023 | Inguinal hernia | |
| HP:0002475 | Myelomeningocele | |
| HP:0002667 | Nephroblastoma | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2128
- This record as JSON: /data/d/2128.json