Ain-Naz type of dysostosis multiplex (DMAN) is a severe inherited skeletal dysplasia which resembles GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 cause DMAN. Recently, LYSET has been discovered as a key regulator of the M6P pathway. LYSET is a Golgi-localized transmembrane protein important for the retention of the GNPT complex in the Golgi apparatus. GNPT is the enzyme that catalyzes the transfer of M6P.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H02729 Ain-Naz type of dysostosis multiplex
Ain NU, Muhammad N, Dianatpour M, Baroncelli M, Iqbal M, Fard MAF, Bukhari I, Ahmed S, Hajipour M, Tabatabaie Z, Foroutan H, Nilsson O, Faghihi MA, Makitie O, Naz S
Title
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
