Infantile-onset multisystem neurologic, endocrine, and pancreatic disease

Definition:

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual disability, microcephaly, progressive ataxia, sensorineural deafness, peripheral neuropathy, exocrine pancreas insufficiency, and hypothyroidism. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling.

References:

[1]. Hao Hu, et al. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. [Content Brief]

[2]. Rajech Sharkia, et al. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Am J Med Genet A. 2017 Apr;173(4):1051-1055. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.