PedAM

Pediatric Disease Annotations & Medicines


	mevalonic aciduria

Disease ID	161
Disease	mevalonic aciduria
Definition	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.
Synonym	deficiency of mevalonate kinase deficiency of mevalonate kinase (disorder) hids hyperimmunoglobulin d with periodic fever syndrome kinase deficiencies, mevalonate kinase deficiency, mevalonate mevalonate kinase deficiencies mevalonate kinase deficiency mevalonate kinase deficiency [disease/finding]
Orphanet	ORPHANET:309025 ORPHANET:29
OMIM	OMIM:610377 OMIM:260920
DOID	DOID:0050452
UMLS	C0342731
MeSH	D054078
SNOMED-CT	SNOMEDCT_US_2016_09_01:124327008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0035021 \| recurrent fever \| 1 C0342731 \| mevalonate kinase deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MVK \| 4598 \| CTD_human;ORPHANET;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4598 \| MVK \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 7132 \| TNFRSF1A \| DISEASES 282808 \| RAB40AL \| DISEASES 4210 \| MEFV \| DISEASES 2222 \| FDFT1 \| DISEASES 4598 \| MVK \| DISEASES 7374 \| UNG \| DISEASES 3557 \| IL1RN \| DISEASES 26525 \| IL36RN \| DISEASES 6307 \| MSMO1 \| DISEASES 23417 \| MLYCD \| DISEASES 10483 \| SEC23B \| DISEASES 3553 \| IL1B \| DISEASES 7879 \| RAB7A \| DISEASES 3930 \| LBR \| DISEASES 3606 \| IL18 \| DISEASES 2895 \| GRID2 \| DISEASES 5147 \| PDE6D \| DISEASES 3156 \| HMGCR \| DISEASES 3242 \| HPD \| DISEASES 64127 \| NOD2 \| DISEASES 3159 \| HMGA1 \| DISEASES 91662 \| NLRP12 \| DISEASES 9364 \| RAB28 \| DISEASES 340061 \| TMEM173 \| DISEASES 6011 \| GRK1 \| DISEASES 114548 \| NLRP3 \| DISEASES 79092 \| CARD14 \| DISEASES 1798 \| DPAGT1 \| DISEASES 10533 \| ATG7 \| DISEASES 2224 \| FDPS \| DISEASES 1121 \| CHM \| DISEASES 1644 \| DDC \| DISEASES 23567 \| ZNF346 \| DISEASES 58484 \| NLRC4 \| DISEASES 1718 \| DHCR24 \| DISEASES 51552 \| RAB14 \| DISEASES 3155 \| HMGCL \| DISEASES 7133 \| TNFRSF1B \| DISEASES 6103 \| RPGR \| DISEASES 23746 \| AIPL1 \| DISEASES 3652 \| IPP \| DISEASES 5861 \| RAB1A \| DISEASES 7124 \| TNF \| DISEASES 10165 \| SLC25A13 \| DISEASES 387 \| RHOA \| DISEASES 834 \| CASP1 \| DISEASES 10682 \| EBP \| DISEASES 4043 \| LRPAP1 \| DISEASES 9051 \| PSTPIP1 \| DISEASES 22861 \| NLRP1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) MVK \| 12q24.11

Disease ID	161
Disease	mevalonic aciduria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0000268 \| Dolichocephaly HP:0000592 \| Blue sclerae HP:0001251 \| Ataxia HP:0000494 \| Downslanted palpebral fissures HP:0004322 \| Short stature HP:0001744 \| Splenomegaly HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0002120 \| Cerebral cortical atrophy HP:0001250 \| Seizures HP:0002750 \| Delayed skeletal maturation HP:0001263 \| Global developmental delay HP:0000518 \| Cataract HP:0000239 \| Large fontanelles HP:0000325 \| Triangular face HP:0001252 \| Muscular hypotonia HP:0000368 \| Low-set, posteriorly rotated ears
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001945 \| Fever \| 1

Disease ID	161
Disease	mevalonic aciduria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0086543 \| cataracts
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104895295	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK;MMAB	12	109574881	A	C
rs104895297	17213252	4598	MVK	umls:C0342731	BeFree	Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD.	0.247795869	2007	MVK	12	109581427	C	T
rs104895301	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109586098	G	A
rs104895304	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109591275	T	C
rs104895308	18941711	4598	MVK	umls:C1959626	BeFree	The patient had extremely elevated levels of mevalonic aciduria and had homozygosity as a novel mutation in the MVK gene (G326R).	0.363800186	2009	MVK	12	109595118	G	A
rs104895317	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109595142	G	A
rs104895319	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109595070	G	A
rs104895319	20194276	4598	MVK	umls:C1959626	BeFree	Genomic sequencing of the MVK gene revealed compound heterozygosity for a missense mutation previously described in MA (V310M) and a novel missense mutation (Y116H).	0.363800186	2010	MVK	12	109595070	G	A
rs104895322	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK;MMAB	12	109574894	-	T
rs104895334	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK;MMAB	12	109574838	CTACTGGTGTCTGCTCCGG	-
rs104895373	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109581440	-	C
rs104895382	20194276	4598	MVK	umls:C1959626	BeFree	Genomic sequencing of the MVK gene revealed compound heterozygosity for a missense mutation previously described in MA (V310M) and a novel missense mutation (Y116H).	0.363800186	2010	MVK	12	109579921	T	C
rs121917789	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109595044	A	C,G
rs28934896	1377680	4598	MVK	umls:C1959626	UNIPROT	Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.	0.363800186	1992	NA	NA	NA	NA	NA
rs28934897	NA	4598	MVK	umls:C1959626	CLINVAR	NA	0.363800186	NA	MVK	12	109596515	G	A
rs28934897	17213252	4598	MVK	umls:C0342731	BeFree	Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD.	0.247795869	2007	MVK	12	109596515	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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