Entry - 200170 - ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT - OMIM

 
ICD+
200170

ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT


Clinical Synopsis
 

Skin
- Acanthosis nigricans
Neuro
- Muscle cramps
Endo
- Insulin resistance
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

Flier et al. (1980) described a brother and sister with insulin resistance, acanthosis nigricans, severe muscle cramps, large puffy hands, and enlarged kidneys. The sister had polycystic ovaries with virilization. Following dilantin treatment, the cramps improved dramatically and in the male insulin resistance decreased. The sibship contained 11 children of whom 1 other may have been affected.


▼ REFERENCES

  1. Flier, J. S., Young, J. B., Landsberg, L. Familial insulin resistance with acanthosis nigricans, acral hypertrophy, and muscle cramps. New Eng. J. Med. 303: 970-973, 1980. [PubMed: 6997748, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
mimadm : 11/12/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/18/1986

200170

ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT


ORPHA: 90301;   DO: 3138;  



TEXT

Flier et al. (1980) described a brother and sister with insulin resistance, acanthosis nigricans, severe muscle cramps, large puffy hands, and enlarged kidneys. The sister had polycystic ovaries with virilization. Following dilantin treatment, the cramps improved dramatically and in the male insulin resistance decreased. The sibship contained 11 children of whom 1 other may have been affected.


REFERENCES

  1. Flier, J. S., Young, J. B., Landsberg, L. Familial insulin resistance with acanthosis nigricans, acral hypertrophy, and muscle cramps. New Eng. J. Med. 303: 970-973, 1980. [PubMed: 6997748] [Full Text: https://doi.org/10.1056/NEJM198010233031704]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
mimadm : 11/12/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/18/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 4, 2024