KEGG   DISEASE: Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
Entry
H00993                      Disease                                
Name
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I);
Taybi-Linder syndrome
Description
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis.
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
    H00993  Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
Gene
RNU4ATAC [HSA:100151683] [KO:K26388]
Comment
See also H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II).
Other DBs
ICD-11: LD20.2
MeSH: C537577
OMIM: 210710
Reference
PMID:21474761
  Authors
Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL
  Title
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
  Journal
Science 332:240-3 (2011)
DOI:10.1126/science.1202205
Reference
PMID:9800907
  Authors
Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N
  Title
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
  Journal
Am J Med Genet 80:16-24 (1998)
DOI:10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5
Reference
PMID:21990275
  Authors
Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
  Title
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
  Journal
Am J Med Genet A 155A:2885-96 (2011)
DOI:10.1002/ajmg.a.34299
Reference
PMID:15372530
  Authors
Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V
  Title
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.
  Journal
Am J Med Genet A 130A:181-90 (2004)
DOI:10.1002/ajmg.a.30079
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