Acanthosis nigricans

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 924
OMIM Id: 100600
ICD-10: L83
UMLs: C0000889
MeSH: D000052
MedDRA: 10000350
Snomed: 402599005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal dominant
Autosomal dominant inheritance
[Omim]
Age of onset: Variable
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
2
(HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
3
(HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 75 / 7739
4
(HPO:0000956) Acanthosis nigricans 54 / 7739
5
(HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
6
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
7
(HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
8
(OMIM) Thick hyperpigmented flexural area skin 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
11
(OMIM) Benign acanthosis nigricans 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Acanthosis nigricans consists of thickening and hyperpigmentation of the skin of the entire body but especially in flexural areas. In an affected mother and daughter reported by Tasjian and Jarratt (1984), skin lesions were first noted in infancy. ...