KEGG DISEASE: Nivelon-Nivelon-Mabille syndrome

KEGG

DISEASE: Nivelon-Nivelon-Mabille syndrome

Entry

H02479                      Disease

Name

Nivelon-Nivelon-Mabille syndrome

Description

Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.

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
    H02479  Nivelon-Nivelon-Mabille syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H02479  Nivelon-Nivelon-Mabille syndrome

Pathway

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

HHAT [HSA:55733] [KO:K24678]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS

Title

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Journal

Am J Med Genet A 179:1053-1057 (2019)
DOI:10.1002/ajmg.a.61133

Reference

Authors

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stevant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jegou B, Trainor PA, Resh MD, Antonarakis SE, Nef S

Title

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Journal

PLoS Genet 10:e1004340 (2014)
DOI:10.1371/journal.pgen.1004340

LinkDB

» Japanese version

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