ORPHA:2377
Laurence-Moon syndrome
Synonyms: LMS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laurence-Moon syndrome | LMS |
| fr | Syndrome de Laurence-Moon | |
| de | Laurence-Moon-Syndrom | = en |
| es | Síndrome de Laurence-Moon | |
| it | Sindrome di Laurence-Moon | = en |
| nl | Syndroom van Laurence-Moon | = en |
| pt | Síndrome Laurence-Moon | = en |
| pl | Zespół Laurence'a i Moona | = en |
| cs | Laurenceův-Moonův syndrom | Laurence-Moonův syndrom |
| uk | Синдром Лоуренса-Муна | = en |
| zh | 劳伦斯-穆恩综合征 | |
| tr | Laurence-Moon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | inclusion | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0009514 | E | validated | |
| MeSH | D007849 | E | validated | |
| UMLS | C0023138 | E | validated | |
| GARD | 12635 | E | validated | |
| MedDRA | 10056710 | 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 (5):
- 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 - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156183Retinal ciliopathy due to mutation in Bardet-Biedl gene
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16268 | ENSG00000032444 | 603197 | 19p13.2 | patatin like domain 6, lysophospholipase | 25480986[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009896 | Abnormality of the antitragus | |
| HP:0006101 | Finger syndactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0001249 | Intellectual disability | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001251 | Ataxia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0000286 | Epicanthus | |
| HP:0000612 | Iris coloboma | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000486 | Strabismus | |
| HP:0005978 | Type II diabetes mellitus | |
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/2377
- This record as JSON: /data/d/2377.json