U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

MedGen UID:
348051
•Concept ID:
C1860215
•
Disease or Syndrome
Synonyms: Acanthosis nigricans with muscle cramps and acral enlargement; Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
 
Monarch Initiative: MONDO:0008696
OMIM®: 200170
Orphanet: ORPHA90301

Definition

This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. [from ORDO]

Clinical features

From HPO
Muscle spasm
MedGen UID:
52431
•Concept ID:
C0037763
•
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
See: Feature record | Search on this feature
Insulin resistance
MedGen UID:
43904
•Concept ID:
C0021655
•
Pathologic Function
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
See: Feature record | Search on this feature
Acanthosis nigricans
MedGen UID:
54
•Concept ID:
C0000889
•
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Follow this link to review classifications for Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome in Orphanet.

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...