Laurence-Moon syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 35 |
| OrphanetNr: | 2377 |
| OMIM Id: |
245800
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0023138 |
| MeSH: |
D007849 |
| MedDRA: |
10056710 |
| Snomed: |
232059000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome with hypogonadotropic hypogonadism -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000046) | Scrotal hypoplasia | 54 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 232 / 7739 | |||
|
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(HPO:0000047) | Hypospadias | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Occasional [Orphanet] | 222 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000580) | Pigmentary retinopathy | 49 / 7739 | ||||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0001139) | Choroideremia | 7 / 7739 | ||||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
|
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
|
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(HPO:0009896) | Abnormality of the antitragus | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | 54 / 7739 | ||||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Occasional [Orphanet] | 162 / 7739 | |||
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(HPO:0002612) | Congenital hepatic fibrosis | Occasional [Orphanet] | 16 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | No obesity | 2 / 7739 | ||||
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(OMIM) | No polydactyly | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|