ORPHA:3242
Renpenning syndrome
Synonyms: X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renpenning syndrome | X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type |
| fr | Syndrome de Renpenning | Déficience intellectuelle liée à l'X par mutation de PQBP1 · Déficience intellectuelle liée à l'X type Renpenning |
| de | Renpenning-Syndrom | Intelligenzminderung, X-chromosomale, Typ Renpenning · X-chromosomale Intelligenzminderung mit PQBP1-Genmutation |
| es | Síndrome de Renpenning | Discapacidad intelectual ligada al cromosoma X por mutaciones en el gen PQBP1 · Discapacidad intelectual ligada al cromosoma X tipo Renpenning |
| it | Sindrome di Renpenning | Disabilità intellettiva legata all'X da mutazione di PQBP1 · Disabilità intellettiva legata all'X, tipo Renpenning |
| nl | Syndroom van Renpenning | X-gebonden intellectuele achterstand door PQBP1-mutaties · X-gebonden intellectuele achterstand, Renpenning-type |
| pt | Síndrome Renpenning | Perturbação do desenvolvimento intelectual ligada ao X por mutações PQBP1 · Perturbação do desenvolvimento intelectual ligada ao X, tipo Renpenning |
| pl | Zespół Renpenninga | Niepełnosprawność intelektualna sprzężona z chromosomem X spowodowana mutacjami PQBP1 · Niepełnosprawność intelektualna sprzężona z chromosomem X, typu Renpenninga |
| cs | Renpenningův syndrom | X-vázaná mentální retardace způsobená mutacemi v PQBP1 genu · X-vázaná mentální retardace, Renpenningův typ |
| uk | Синдром Ренпеннінга | Х-зчеплена розумова відсталість внаслідок мутацій PQBP1 · Х-зчеплена розумова відсталість, тип Ренпеннінга |
| zh | X-连锁精神发育迟缓综合征 | PQBP1突变所致X-连锁智力障碍 |
| tr | Renpenning sendromu | X'e bağlı zihinsel yetersizlik, Renpenning tipi · PQBP1 mutasyonlara bağlı X'e bağlı zihinsel yetersizlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309500 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010653 | E | validated | |
| UMLS | C0796135 | E | validated | |
| GARD | 9509 | 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 (2):
- 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
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Genes
0 direct · 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| PQBP1 | ORPHA:93945X-linked intellectual disability, Porteous type | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 | |
| PQBP1 | ORPHA:93946Hamel cerebro-palato-cardiac syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 | |
| PQBP1 | ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall type | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 | |
| PQBP1 | ORPHA:93950X-linked intellectual disability, Sutherland-Haan type | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 64 cases | Worldwide | Case(s) | Validated | 20950397[PMID]_16493439[PMID]_17033686[PMID]_11950858[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
42 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004326 | Cachexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0003510 | Severe short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0001596 | Alopecia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000047 | Hypospadias | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000275 | Narrow face | |
| HP:0000448 | Prominent nose | |
| HP:0100830 | Round ear | |
| HP:0000322 | Short philtrum | |
| HP:0000274 | Small face | |
| HP:0000912 | Sprengel anomaly | |
| HP:0045074 | Thin eyebrow | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0003328 | Abnormal hairshaft morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0002023 | Anal atresia | |
| HP:0010761 | Broad columella | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000819 | Diabetes mellitus | |
| HP:0030853 | Heterotaxy | |
| HP:0008499 | High hypermetropia | |
| HP:0002705 | High, narrow palate | |
| HP:0000612 | Iris coloboma | |
| HP:0001387 | Joint stiffness | |
| HP:0001572 | Macrodontia | |
| HP:0000160 | Narrow mouth | |
| HP:0000767 | Pectus excavatum | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3242
- This record as JSON: /data/d/3242.json