Carney complex

Summary
Synonym
  • Carney Complex, Type 1
  • Carney Complex, Type 2
  • Carney Syndrome
  • Carney complex variant
  • LAMB Syndrome
  • NAME Syndrome
Definition
A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0050471
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5573 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 54 in total
HPO ID HPO Term
HP:0000798 Oligozoospermia
HP:0000138 Ovarian cyst
HP:0000866 Euthyroid multinodular goiter
HP:0000053 Macroorchidism
HP:0000826 Precocious puberty
HP:0000708 Atypical behavior
HP:0000008 Abnormal morphology of female internal genitalia
HP:0000771 Gynecomastia
HP:0000845 Elevated circulating growth hormone concentration
HP:0000098 Tall stature
Displaying 1 entry
Gene ID Gene Symbol Description
50940 PDE11A phosphodiesterase 11A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024