KEGG DISEASE: Mandibulofacial dysostosis with alopecia

KEGG

DISEASE: Mandibulofacial dysostosis with alopecia

Entry

H02126                      Disease

Name

Mandibulofacial dysostosis with alopecia

Description

Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.

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
    H02126  Mandibulofacial dysostosis with alopecia
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H02126  Mandibulofacial dysostosis with alopecia

Pathway

Calcium signaling pathway

Neuroactive ligand-receptor interaction

cAMP signaling pathway

Network

nt06325 Hormone/cytokine signaling

Gene

EDNRA [HSA:1909] [KO:K04197]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Cushman LJ, Torres-Martinez W, Weaver DD

Title

Johnson-McMillin syndrome: report of a new case with novel features.

Journal

Birth Defects Res A Clin Mol Teratol 73:638-41 (2005)
DOI:10.1002/bdra.20178

Reference

PMID:25772936 (EDNRA)

Authors

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschke P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J

Title

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Journal

Am J Hum Genet 96:519-31 (2015)
DOI:10.1016/j.ajhg.2015.01.015

LinkDB

» Japanese version

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