KEGG   DISEASE: Intellectual developmental disorder with short stature
Entry
H02346                      Disease                                
Name
Intellectual developmental disorder with short stature
  Subgroup
IDD with short stature, facial anomalies, and speech defects (IDDSFAS)
IDD with abnormal behavior, microcephaly, and short stature (IDDABS)
IDD with short stature and behavioral abnormalities (IDDSSBA)
IDD with short stature and variable skeletal anomalies (IDDSSA)
  Supergrp
Syndromic intellectual developmental disorder [DS:H02463]
Description
Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short stature. Several underlying genetic causes of these diseases have been identified.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02346  Intellectual developmental disorder with short stature
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02346  Intellectual developmental disorder with short stature
Related
pathway
hsa04710  Circadian rhythm
hsa04144  Endocytosis
hsa04140  Autophagy - animal
Gene
(IDDSFAS) FBXL3 [HSA:26224] [KO:K10269]
(IDDABS) PUS7 [HSA:54517] [KO:K06176]
(IDDSSBA) IQSEC1 [HSA:9922] [KO:K12495]
(IDDSSA) WIPI2 [HSA:26100] [KO:K17908]
Other DBs
ICD-11: LD90.Y
ICD-10: Q89.8
OMIM: 606220 618342 618687 618453
Reference
  Authors
Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
  Title
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
  Journal
Hum Mol Genet 28:972-979 (2019)
DOI:10.1093/hmg/ddy406
Reference
  Authors
Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM
  Title
The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.
  Journal
Science 316:897-900 (2007)
DOI:10.1126/science.1141138
Reference
  Authors
de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S
  Title
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
  Journal
Am J Hum Genet 103:1045-1052 (2018)
DOI:10.1016/j.ajhg.2018.10.026
Reference
  Authors
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE
  Title
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
  Journal
Am J Hum Genet 105:907-920 (2019)
DOI:10.1016/j.ajhg.2019.09.013
Reference
  Authors
Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J
  Title
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.
  Journal
Brain 142:1242-1254 (2019)
DOI:10.1093/brain/awz075
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