Details of Disease | DrugMAP

General Information of Disease (ID: DISWB92Q)

Disease Name	Hyperimmunoglobulinemia D with periodic fever
Synonyms	hyperimmunoglobulinemia D and periodic fever syndrome; hyper IgD syndrome; periodic fever, Dutch type; periodic fever Dutch type; hyperimmunoglobulinemia D syndrome; HIDS; hyper-IgD syndrome; partial mevalonate kinase deficiency; hyperimmunoglobinemia D with recurrent fever
Definition	Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Disease Hierarchy	DISAEGPH: Immune system disorder DISSTRVK: Mevalonate kinase deficiency DISWB92Q: Hyperimmunoglobulinemia D with periodic fever
Disease Identifiers	MONDO ID MONDO_0009849 MESH ID D054078 UMLS CUI C0398691 OMIM ID 260920 MedGen ID 140768 Orphanet ID 343 SNOMED CT ID 403834003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MVK	TT5DFHW	Limited	Genetic Variation	[1]
FDFT1	TTFQEO5	Strong	Biomarker	[2]
HMGCR	TTPADOQ	Definitive	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MVK	DEAO92K	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEFV	OTRJ6S6K	moderate	Biomarker	[5]
MVK	OTHJCUKT	Definitive	Autosomal recessive	[4]
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References

1	Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):86-89. Epub 2018 Nov 9.
2	Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
3	Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem. 2003 Feb 21;278(8):5736-43.
4	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
5	Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement.Curr Opin Rheumatol. 2018 Sep;30(5):506-513. doi: 10.1097/BOR.0000000000000532.