Autosomal recessive brachyolmia
Synonyms: Brachyolmia, Hobaek/Toledo type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive brachyolmia | Brachyolmia, Hobaek/Toledo type |
| fr | Brachyolmie autosomique récessive | Brachyolmie type Hobaek/Toledo |
| de | Brachyolmie, autosomal-rezessive | Brachyolmie Typ Hobaek/Toledo |
| es | Braquiolmia autosómica recesiva | Braquiolmia tipo Hobaek/Toledo |
| it | Brachiolmia autosomica recessiva | Brachiolmia autosomica recessiva, tipo Hobaek/Toledo |
| nl | Autosomaal recessieve brachyolmie | Brachyolmie, Hobaek/Toledo-type |
| pt | Braquiolmia, forma recessiva | |
| pl | Brachyolmia, typ recesywny | Autosomalna recesywna brachyolmia, typ Hobaek/Toledo |
| cs | Brachyolmie, recesivní typ | Autozomálně recesivní brachyolmie, Hobaek/Toledo typ |
| uk | Аутосомно-рецесивна брахіолмія | Брахіолмія, тип Хобек/Толедо |
| zh | 常染色体隐性遗传血吸虫病 | Hobaek/Toledo型血吸虫病 |
| tr | Otozomal resesif brakiyolmi | Brakiyolmi, Hobaek/Toledo tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271530 | BTNT | validated | |
| OMIM | 271630 | BTNT | validated | |
| ICD-10 | Q76.3 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0018662 | E | validated | |
| UMLS | C4760908 | 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 (1):
- ORPHA:1293Brachyolmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:93301Brachyolmia type 1, Hobaek type moved to · inactive
- ORPHA:93303Brachyolmia type 1, Toledo type moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAPSS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8604 | ENSG00000198682 | 603005 | 10q23.2-q23.31 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | 22791835[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | Dr Gen NISHIMURA[EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/448242
- This record as JSON: /data/d/448242.json