AmyCo

Basic Information

Disease Name:

Mevalonate Kinase Deficiency

Alternative Names:

Hyper IgD Syndrome
Hyper-IgD Syndrome
Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Mevalonic Aciduria
Mevalonicaciduria
Periodic Fever, Dutch Type
HIDS
Hyperimmunoglobulinemia D syndrome
Hyperimmunoglobinemia D with recurrent fever
MEVA

MeSH Description:

Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and mevalonic acid accumulates. It is characterized by a range of symptoms, including dysmorphic facies, psychomotor retardation, cataract, hepatosplenomegaly, cerebellar ataxia, elevated immunoglobulin D, and recurrent febrile crises with fever; lymphadenopathy; arthralgia; edema; and rash.

Type:

Clinical condition associated with amyloidosis

ICD-10 Classification

Other

Tissue:

Kidney, Spleen, Liver

Associated Amyloidosis:

AA Amyloidosis

Precursor Proteins:

Primary Name:	Serum amyloid A-1 protein
Gene Name:	SAA1
Alternative Protein Names:	Serum amyloid A-1 protein (SAA) [Cleaved into: Amyloid protein A (Amyloid fibril protein AA); Serum amyloid protein A(2-104); Serum amyloid protein A(3-104); Serum amyloid protein A(2-103); Serum amyloid protein A(2-102); Serum amyloid protein A(4-101)]
ISA Nomenclature:	AA
Protein Length:	122
Precursor Protein Sequence:	MKLLTGLVFCSLVLGVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGVWAAEAISDARENIQRFFGHGAEDSLADQAANEWGRSGKDPNHFRPAGLPEKY
UniProt AC:	P0DJI8
UniProt ID:	SAA1_HUMAN
AmyPro:	AP00005

Primary Name:	Serum amyloid A-2 protein
Gene Name:	SAA2
Alternative Protein Names:	Serum amyloid A-2 protein (SAA2)
ISA Nomenclature:	AA
Protein Length:	122
Precursor Protein Sequence:	MKLLTGLVFCSLVLSVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGAWAAEVISNARENIQRLTGRGAEDSLADQAANKWGRSGRDPNHFRPAGLPEKY
UniProt AC:	P0DJI9
UniProt ID:	SAA2_HUMAN
AmyPro:

Co-deposited Proteins:

No information available

MeSH:
ICD:
OMIM:
PubMed:

Protein Information

Protein Information