Björnstad syndrome
Synonyms: Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome · Crandall syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder, caused by complex III deficiency, characterized by congenital sensorineural hearing loss and pili torti. Hypogonadism and intellectual disability were occasionally reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Björnstad syndrome | Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome · Crandall syndrome |
| fr | Syndrome de Björnstad | Syndrome de surdité-pili torti-hypogonadisme · Syndrome de Crandall |
| de | Björnstad-Syndrom | Hörverlust-Pili-torti-Hypogonadismus-Syndrom · Crandall-Syndrom · Schwerhörigkeit-Pili torti-Hypogonadismus-Syndrom |
| es | Síndrome de Björnstadt | Síndrome de hipoacusia-pili torti-hipogonadismo · Síndrome de sordera-pili torti-hipogonadismo · Síndrome de Crandall |
| it | Sindrome di Björnstad | |
| nl | Syndroom van Björnstad | Doofheid - pili torti - hypogonadisme-syndroom · Gehoorverlies - pili torti - hypogonadisme-syndroom · Syndroom van Crandall |
| pt | Síndrome Björnstadt | |
| pl | Zespół Björnstada | Głuchota - włosy skręcone - hipogonadyzm |
| cs | Björnstadův syndrom | Syndrom zahrnující hluchotu, spirálovitě stočené vlasy a hypogonadismus |
| uk | Синдром Бьорнстада | Синдром глухоти-pili torti-гіпогонадизму · Синдром приглухуватості-pili torti-гіпогонадизму |
| zh | Bj÷rnstad综合征 | 听力丧失-眩晕-性腺功能减退综合征 |
| tr | Björnstad sendromu | Sağırlık-pili torti-hipogonadizm sendromu · İşitme kaybı-pili torti-hipogonadizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262000 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | EC21.1 | NTBT | index | validated |
| MONDO | 0009872 | E | validated | |
| MeSH | C537633 | E | validated | |
| UMLS | C0266006 | E | validated | |
| GARD | 22 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:202Crandall syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:1020 | ENSG00000074582 | 603647 | 2q35 | BCS1 ubiquinol-cytochrome c reductase complex chaperone | 17314340[PMID]_24172246[PMID]_24236502[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 11807445[PMID] | |
| 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.
HPO phenotypes
12 annotations · validated 2017-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002299 | Brittle hair | |
| HP:0003777 | Pili torti | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002231 | Sparse body hair | |
| Frequent (79-30%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0002213 | Fine hair | |
| HP:0008736 | Hypoplasia of penis | |
| Occasional (29-5%) | ||
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 10694305[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/123
- This record as JSON: /data/d/123.json