Details of Disease | DrugMAP

General Information of Disease (ID: DIS25LK9)

Disease Name	Microcephalic primordial dwarfism due to RTTN deficiency
Definition	Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.
Disease Hierarchy	DISZ93BO: Primordial dwarfism and slender bone disorder DIS6SVEE: Syndromic disease DIS25LK9: Microcephalic primordial dwarfism due to RTTN deficiency
Disease Identifiers	MONDO ID MONDO_0018764 UMLS CUI C3553831 OMIM ID 614833 MedGen ID 766745 Orphanet ID 468631 SNOMED CT ID 1187195007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FIG4	OT501PY9	Definitive	Genetic Variation	[1]
RTTN	OT5PB986	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9.
2	RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19.