Details of Disease

General Information of Disease (ID: DISHUS57)

Disease Name Microcephalic osteodysplastic primordial dwarfism type II
Synonyms
microcephalic osteodysplastic primordial dwarfism with tooth abnormalities; microcephalic osteodysplastic primordial dwarfism type 2; Mopd 2; osteodysplastic primordial dwarfism type 2; microcephalic osteodysplastic primordial dwarfism, type 2; microcephalic osteodysplastic primordial dwarfism, type II; MOPD II; osteodysplastic primordial dwarfism, type 2; MOPD2; MOPD type II; Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II
Definition
A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DIS9SPWW: Osteochondrodysplasia
DISYOKTG: Mendelian neurodevelopmental disorder
DISTBNWY: Microcephalic osteodysplastic primordial dwarfism
DISHUS57: Microcephalic osteodysplastic primordial dwarfism type II
Disease Identifiers
MONDO ID
MONDO_0008872
MESH ID
C565898
UMLS CUI
C0432246
OMIM ID
210720
MedGen ID
96587
Orphanet ID
2637
SNOMED CT ID
1208348002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CENPE TTZD5QR Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCNT OTW4Z65J Definitive Autosomal recessive [2]
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References

1 Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.