Details of Disease | DrugMAP

General Information of Disease (ID: DISCLVHK)

Disease Name	Multiple epiphyseal dysplasia, Al-Gazali type
Synonyms	macrocephaly with multiple epiphyseal dysplasia and distinctive facies; AGBK; Mmedf; AL-Gazali-BAKALINOVA syndrome; Al-Gazali-Bakalinova syndrome; multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
Definition	Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.
Disease Hierarchy	DISF9ZRZ: KIF7-related ciliopathy DIS5FZLR: Multiple epiphyseal dysplasia DISCLVHK: Multiple epiphyseal dysplasia, Al-Gazali type
Disease Identifiers	MONDO ID MONDO_0011778 MESH ID C564621 UMLS CUI C1846722 OMIM ID 607131 MedGen ID 335505 Orphanet ID 166024

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
KIF7	OT1J6NAW	Supportive	Autosomal recessive	[1]
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References

1	A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis. 2012 May 15;7:27. doi: 10.1186/1750-1172-7-27.