loading...| Preferred Name |
Mevalonate Kinase Deficiency |
|
| Synonyms |
Hyper-IgD Syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054078 |
|
| altLabel |
Hyper-IgD Syndrome Mevalonicacidurias Hyper IgD Syndrome Kinase Deficiencies, Mevalonate Kinase Deficiency, Mevalonate Hyper-IgD Syndromes Periodic Fever, Dutch Type Mevalonic Aciduria Aciduria, Mevalonic Hyper IgD Syndromes Mevalonicaciduria Hyperimmunoglobulinemia D Mevalonate Kinase Deficiencies Hyperimmunoglobulinemia D And Periodic Fever Syndrome Syndrome, Hyper-IgD |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0398691 C0342731 C1959626 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20080101 |
|
| HN |
2008 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2008 |
|
| MDA |
20070709 |
|
| MMR |
20150608 |
|
| MN |
C10.228.140.163.100.593 C16.320.565.189.593 C15.378.147.542.319 C18.452.648.663.430 C18.452.648.189.593 C16.320.382.750 C16.320.565.663.430 C20.683.460.319 C18.452.132.100.593 |
|
| notation |
D054078 |
|
| prefLabel |
Mevalonate Kinase Deficiency |
|
| TERMUI |
T735344 T812355 T680490 T680485 T680486 T680491 T846071 T680484 |
|
| TH |
OMIM (2013) NLM (2008) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D018901 http://purl.bioontology.org/ontology/MESH/D006942 |