Details of Disease | DrugMAP

General Information of Disease (ID: DISI3TP6)

Disease Name	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Synonyms	Saul-Wilson syndrome; microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS; microcephalic osteodysplastic dysplasia
Definition	A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.
Disease Hierarchy	DISZ93BO: Primordial dwarfism and slender bone disorder DISVKAZS: Bone development disease DIS3HIWD: Autosomal dominant disease DISI3TP6: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease Identifiers	MONDO ID MONDO_0019407 UMLS CUI C1300285 OMIM ID 618150 MedGen ID 722057 Orphanet ID 85172

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COG4	OT6U94UE	Strong	Autosomal dominant	[1]
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References

1	A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.