KEGG DISEASE: Macrocephaly, acquired, with impaired intellectual development

DISEASE: Macrocephaly, acquired, with impaired intellectual development

Entry

H02652                      Disease

Name

Macrocephaly, acquired, with impaired intellectual development

Description

Macrocephaly, acquired, with impaired intellectual development (MACID) is a novel syndrome characterized by intellectual disability with macrocephaly, motor delay, hypotonia, behavioral abnormalities, and variable structural brain anomalies. Recently, haploinsufficiency of NFIB has been shown to cause this disease. NFIB is a NFI family member that play an important role in development of multiple organ systems including the brain.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02652  Macrocephaly, acquired, with impaired intellectual development

Gene

NFIB [HSA:4781] [KO:K09169]

Other DBs

ICD-11:

LD20.Y

OMIM:

618286

Reference

PMID:30388402

Authors

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attie-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gerard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Riviere JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ

Title

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Journal

Am J Hum Genet 103:752-768 (2018)
DOI:10.1016/j.ajhg.2018.10.006

Reference

PMID:36321570

Authors

Marinella G, Conti E, Buchignani B, Sgherri G, Pasquariello R, Giordano F, Cristofani P, Battini R, Battaglia A

Title

Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Journal

Am J Med Genet A 191:540-545 (2023)
DOI:10.1002/ajmg.a.63018

LinkDB

» Japanese version

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