ORPHA:33108
Lethal multiple pterygium syndrome
Synonyms: LMPS · Autosomal recessive lethal multiple pterygium syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal multiple pterygium syndrome | LMPS · Autosomal recessive lethal multiple pterygium syndrome |
| fr | Forme létale du syndrome des ptérygiums multiples | Forme létale autosomique récessive du syndrome des ptérygiums multiples · LMPS |
| de | Multiples Pterygium-Syndrom, letales | LMPS · Multiples Pterygium-Syndrom, autosomal-rezessives |
| es | Síndrome de pterigium múltiple letal | LMPS · Síndrome de pterigium múltiple letal autosómico recesivo |
| it | Sindrome letale da pterigi multipli | LMPS · Sindrome letale degli pterigi multipli, autosomica recessiva |
| nl | Letaal multipele pterygium-syndroom | Autosomaal recessief letaal multipele pterygium-syndroom · LMPS |
| pt | Síndrome de pterígio múltiplo letal | |
| pl | Śmiertelny zespół mnogich płetwistości | Autosomalny recesywny śmiertelny zespół mnogich płetwistości · LMPS |
| cs | Letální syndrom mnohočetných pterygií | LMPS · Autozomálně recesivní letální syndrom mnohočetných pterygií |
| uk | Летальний синдром множинних птеригіумів | Аутосомно-рецесивний летальний синдром множинної птеригії · LMPS |
| zh | 致死性多发性翼状胬肉综合征 | 常染色体隐性遗传致死性多发性翼状胬肉综合征 |
| tr | Lethal çoklu piterjiyum sendromu | LMPS · Otozomal çekinik letal çoklu piterjiyum sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253290 | BTNT | validated | |
| OMIM | 619334 | BTNT | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD26.40 | NTBT | index | validated |
| MONDO | 0009668 | E | validated | |
| UMLS | C1854678 | E | validated | |
| GARD | 3834 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:294060Multiple pterygium syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAPSN | Candidate gene tested in | Not yet assessed | HGNC:9863 | ENSG00000165917 | 601592 | 11p11.2 | receptor associated protein of the synapse | |
| CHRNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1955 | ENSG00000138435 | 100690 | 2q31.1 | cholinergic receptor nicotinic alpha 1 subunit | 18252226[PMID] |
| CHRND | Disease-causing germline mutation(s) in | Assessed | HGNC:1965 | ENSG00000135902 | 100720 | 2q37.1 | cholinergic receptor nicotinic delta subunit | 18252226[PMID] |
| CHRNG | Disease-causing germline mutation(s) in | Assessed | HGNC:1967 | ENSG00000196811 | 100730 | 2q37.1 | cholinergic receptor nicotinic gamma subunit | 16826531[PMID] |
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin | 28336317[PMID] |
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 26932181[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33108
- This record as JSON: /data/d/33108.json