KEGG DISEASE: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

KEGG

DISEASE: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Entry

H02383                      Disease

Name

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Description

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).

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
    H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Gene

AMMECR1 [HSA:9949] [KO:K24611]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S

Title

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Journal

J Med Genet 54:269-277 (2017)
DOI:10.1136/jmedgenet-2016-104100

Reference

Authors

Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N

Title

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Journal

Gene 606:47-52 (2017)
DOI:10.1016/j.gene.2017.01.001

LinkDB

» Japanese version

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