Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Cellosaurus Disease Terminology
ALMS1 Gene
Cellosaurus Terminology
Syndrome
Rare Non-Neoplastic Disorder
Alstrom Syndrome
A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure.
Alstrom Syndrome
Alstrom Syndrome
Alström Syndrome
An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals.
C0268425
C84549
Cellosaurus
Disease or Syndrome
NICHD
NICHD Terminology