Nevus comedonicus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 64754
OMIM Id:
ICD-10: Q82.5
UMLs: C0265987
MeSH:
MedDRA:
Snomed: 35962006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin tumor
 -Rare genetic disease
Rare nevus
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
3
 (HPO:0100780) Conjunctival hamartoma Very frequent [Orphanet] 4 / 7739
4
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
5
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
6
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
7
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
8
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
9
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
10
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
11
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
12
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
13
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
14
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
15
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
16
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: