Familial Hirschsprung Disease

Gene: PIGV

Comment on list classification: Kept rating as Red based on Erwin's expert review. Hirschsprung's disease is a variable feature of MIM:239300 and further information is needed on the Horn et al. variants before including on a diagnostic panel. Added 'watchlist' tag to be informed of additional cases.

Created: 18 Oct 2017, 9:01 a.m.

Horn et al 2014 (PMID:24129430) investigated 16 individuals diagnosed with hyperphosphatasia-mental retardation syndrome (HPMRS) from Germany, Croatia and Pakistani-origin. Homozygous or compound heterozygous variants in PIGV were found in 9 affected individuals from 8 familie- the most frequent variant was c.1022C>A with
c.176T>G, c.53G>A, c.905T>C, and c.1405C>T also being identified. In 5 of the 9 patients, Hirschsprung disease was diagnosed.

Created: 3 Aug 2017, 2:57 p.m.

Horn et al (PMID:21739589) report a patient (patient 1) with Hyperphosphatasia-mental retardation syndrome and Hirschsprung disease. The patient had compound heterozygous variants c.467G>A and c.1022C>A.

Created: 3 Aug 2017, 2:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia-mental retardation syndrome (MIM:239300) and Hirschsprung disease

Publications

• 21739589

Red List (low evidence)