ORPHA:2850
Alopecia-intellectual disability syndrome
Synonyms: Perniola-Krajewska-Carnevale syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia-intellectual disability syndrome | Perniola-Krajewska-Carnevale syndrome |
| fr | Syndrome de Perniola-Krajewska-Carnevale | Syndrome d'alopécie-déficience intellectuelle |
| de | Alopezie-Intelligenzminderung-Syndrom | Perniola-Krajewska-Carnevale-Syndrom |
| es | Síndrome de alopecia-discapacidad intelectual | Síndrome de Perniola-Krajewska-Carnevale |
| it | Sindrome alopecia-disabilità intellettiva | Sindrome di Perniola-Krajewska-Carnevale |
| nl | Alopecie - intellectuele achterstand-syndroom | Syndroom van Perniola-Krajewska-Carnevale |
| pt | Síndrome de alopecia-perturbação do desenvolvimento intelectual | Síndrome Perniola-Krajewska-Carnevale |
| pl | Zespół łysienie - niepełnosprawność intelektualna | Zespół Perniola, Krajewskiej i Carnevale |
| cs | Syndrom zahrnující alopecii a mentální retardaci | Perniolův-Krajewské-Carnevaleův syndrom · Perniola-Krajewska-Carnevaleův syndrom |
| uk | Синдром алопеції та інтелектуальної недостатності | Синдром Перніоли-Краєвської-Карневале |
| zh | 脱发-智力障碍综合征 | Perniola-Krajewska-Carnevale综合征 |
| tr | Alopesi-zihinsel yetersizlik sendromu | Perniola-Krajewska-Carnevale sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203650 | E | validated | |
| OMIM | 610422 | BTNT | validated | |
| OMIM | 613930 | BTNT | validated | |
| OMIM | 618840 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008756 | E | validated | |
| MeSH | C536660 | E | validated | |
| UMLS | C2931280 | E | validated | |
| GARD | 612 | 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:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2574Moynahan syndrome moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AHSG | Disease-causing germline mutation(s) in | Assessed | HGNC:349 | ENSG00000145192 | 138680 | 3q27.3 | alpha 2-HS glycoprotein | 28054173[PMID] |
| ITGB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6161 | ENSG00000115221 | 147558 | 2q24.2 | integrin subunit beta 6 | 26695873[PMID] |
| LSS | Disease-causing germline mutation(s) in | Assessed | HGNC:6708 | ENSG00000160285 | 600909 | 21q22.3 | lanosterol synthase | 30723320[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28054173[PMID] |
| Cases/families | 15 families | Worldwide | Family(ies) | Validated | 18616779[PMID]_28054173[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.
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HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0002353 | EEG abnormality | |
| HP:0001510 | Growth delay | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0008064 | Ichthyosis | |
| HP:0000613 | Photophobia | |
| HP:0001250 | Seizure | |
| HP:0200012 | Short corpus callosum | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| HP:0001171 | Split hand | |
| Occasional (29-5%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0001371 | Flexion contracture | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000400 | Macrotia | |
| HP:0002650 | Scoliosis | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2850
- This record as JSON: /data/d/2850.json