DISEASE: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Entry
H02391 Disease
Name
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02391 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M
Title
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrotter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hubner C, Kaindl AM
Title
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
