Steatocystoma multiplex - natal teeth

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 3184
OMIM Id: 184510
ICD-10:
UMLs: C1866650
MeSH: C537487
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Genetic sebaceus gland anomaly
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Sebaceous gland anomaly
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Frequent [Orphanet] 78 / 7739
2
 (HPO:0000695) Natal tooth 42 / 7739
3
 (HPO:0001597) Abnormality of the nail 115 / 7739
4
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
5
 (HPO:0012035) Steatocystoma multiplex 4 / 7739
6
 (HPO:0004540) Congenital, generalized hypertrichosis Occasional [Orphanet] 11 / 7739
7
 (HPO:0100838) Recurrent cutaneous abscess formation Frequent [Orphanet] 15 / 7739
8
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
9
 (OMIM) Normal nails 15 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
12
 (OMIM) Steatocystomas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM King and Lee (1987) described a 5-generation Chinese family in which at least 21 individuals had generalized multiple steatocystomas (184500) and natal teeth. There were no manifestations to suggest pachyonychia congenita-2 (PC2; 167210), which is also accompanied by ...