Neurocutaneous melanocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NCM Neurocutaneous melanosis |
| Number of Symptoms | 38 |
| OrphanetNr: | 2481 |
| OMIM Id: |
249400
|
| ICD-10: |
D22 |
| UMLs: |
C0544862 |
| MeSH: |
C537387 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1.25 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inherited nervous system cancer-predisposing syndrome
-Rare neurologic disease Rare nevus -Rare oncologic disease -Rare skin disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Occasional [Orphanet] rare [HPO:skoehler] | 79 / 7739 | |||
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(HPO:0001965) | Abnormality of the scalp | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0002858) | Meningioma | rare [HPO:skoehler] | 22 / 7739 | |||
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(HPO:0200022) | Choroid plexus papilloma | rare [HPO:skoehler] | 2 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0006824) | Cranial nerve paralysis | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001263) | Global developmental delay | rare [HPO:skoehler] | 853 / 7739 | |||
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(HPO:0002435) | Meningocele | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0005603) | Numerous congenital melanocytic nevi | 1 / 7739 | ||||
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(HPO:0000995) | Melanocytic nevus | Very frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000953) | Hyperpigmentation of the skin | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002170) | Intracranial hemorrhage | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0002861) | Melanoma | Occasional [Orphanet] | 18 / 7739 | |||
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(OMIM) | Melanosis of pia-arachnoid | 1 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(OMIM) | Leptomeningeal melanoma | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(OMIM) | Giant pigmented nevi, often in lumbosacral distribution | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(HPO:0100702) | Arachnoid cyst | rare [HPO:skoehler] | 15 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | rare [HPO:skoehler] | 278 / 7739 | |||
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(HPO:0003396) | Syringomyelia | Occasional [Orphanet] rare [HPO:skoehler] | 16 / 7739 | |||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0002308) | Arnold-Chiari malformation | Occasional [Orphanet] | 42 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|