KEGG   DISEASE: Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Entry
H00991                      Disease                                

Name
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Description
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
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
    H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Gene
PCNT [HSA:5116] [KO:K16481]
Comment
MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.
See also H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I).
Other DBs
ICD-11: LD20.2
ICD-10: Q87.1
MeSH: C565898
OMIM: 210720
Reference
  Authors
Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI
  Title
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
  Journal
Am J Med Genet A 130A:55-72 (2004)
DOI:10.1002/ajmg.a.30203
Reference
PMID:9800908
  Authors
Majewski F, Goecke TO
  Title
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
  Journal
Reference
  Authors
Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
  Title
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
  Journal
J Med Genet 47:797-802 (2010)
DOI:10.1136/jmg.2009.067298
Reference
  Authors
Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G
  Title
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
  Journal
Am J Med Genet A 149A:2452-6 (2009)
DOI:10.1002/ajmg.a.33035

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Ontology (2)   
   KEGG BRITE (2)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
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