Details of Disease | DrugMAP

General Information of Disease (ID: DISI2L8K)

Disease Name	Renal-hepatic-pancreatic dysplasia 2
Synonyms	RHPD2; renal-hepatic-pancreatic dysplasia type 2; renal-hepatic-pancreatic dysplasia 2; renal-hepatic-pancreatic dysplasia caused by mutation in NEK8; NEK8 renal-hepatic-pancreatic dysplasia
Definition	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.
Disease Hierarchy	DIS3L6GZ: Renal-hepatic-pancreatic dysplasia DISI2L8K: Renal-hepatic-pancreatic dysplasia 2
Disease Identifiers	MONDO ID MONDO_0014174 UMLS CUI C3809434 OMIM ID 615415 MedGen ID 815764

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
NEK8	TT8AH9I	Strong	Biomarker	[1]
NEK8	TT8AH9I	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEK8	OT8AD4JC	Definitive	Autosomal recessive	[2]
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References

1	Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.