Details of Disease | DrugMAP

General Information of Disease (ID: DIS133XO)

Disease Name	Spondyloepiphyseal dysplasia, kondo-fu type
Synonyms	SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF; Sed With Elevated Blood Lysosomal Enzymes
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DIS133XO: Spondyloepiphyseal dysplasia, kondo-fu type
Disease Identifiers	MONDO ID MONDO_0032721 UMLS CUI C5193071 OMIM ID 618392 MedGen ID 1683128

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
MBTPS1	TTNSM2I	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MBTPS1	OTV0FQMT	Strong	Autosomal recessive	[1]
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References

1	Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 Jul 26;3(14):e121596. doi: 10.1172/jci.insight.121596. eCollection 2018 Jul 26.