Details of Disease | DrugMAP

General Information of Disease (ID: DISL732V)

Disease Name	Acroosteolysis dominant type
Synonyms	HJCYS; acroosteolysis with osteoporosis and changes in skull and mandible; serpentine fibula polycystic kidney syndrome; Hajdu-Cheney syndrome; serpentine fibula-polycystic kidneys syndrome; Hajdu Cheney Syndrome; acrodentoosteodysplasia; Cheney syndrome; Arthrodentoosteodysplasia; serpentine fibula-polycystic kidney syndrome
Definition	A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
Disease Hierarchy	DIS8X0N2: Disappearing bone disease DIS3HIWD: Autosomal dominant disease DIS8I9FS: Hereditary disorder of connective tissue DIS77ACK: Rheumatic disorder DIS6DR19: Acroosteolysis DISL732V: Acroosteolysis dominant type
Disease Identifiers	MONDO ID MONDO_0007057 MESH ID D031845 UMLS CUI C0917715 OMIM ID 102500 MedGen ID 182961 Orphanet ID 955 SNOMED CT ID 63122002

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
NOTCH2	TT82FVD	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPX	OT14T7Q1	Strong	Genetic Variation	[2]
NOTCH2	OTQ3Y9PA	Definitive	Autosomal dominant	[1]
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References

1	Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.
2	A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.Eur J Hum Genet. 2009 May;17(5):565-72. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5.