Details of Disease | DrugMAP

General Information of Disease (ID: DISJRFBW)

Disease Name	Arthrogryposis-like syndrome
Synonyms	arthrogryposis like disorder; Kuskokwim syndrome; Kuskokwim disease
Definition	Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Disease Hierarchy	DISMCQP6: Arthrogryposis multiplex congenita DISJRFBW: Arthrogryposis-like syndrome
Disease Identifiers	MONDO ID MONDO_0015241 MESH ID C538124 UMLS CUI C1859709 MedGen ID 349229 Orphanet ID 1149 SNOMED CT ID 702447002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	TT4P8O2	Supportive	Autosomal recessive	[1]
FKBP10	TT4P8O2	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	OTYKLW1K	Supportive	Autosomal recessive	[1]
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References

1	Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.