Mevalonic aciduria
- Synonyms
- Mevalonicaciduria
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (57 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Normocytic hypoplastic anemia
Normocytic hypoplastic anemia
- MedGen UID: 372147
- Concept ID: C1835875
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
- Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
Elevated circulating C-reactive protein concentration
- MedGen UID: 892906
- Concept ID: C4023452
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated erythrocyte sedimentation rate
Elevated erythrocyte sedimentation rate
- MedGen UID: 57727
- Concept ID: C0151632
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate dehydrogenase concentration
Increased circulating lactate dehydrogenase concentration
- MedGen UID: 1377250
- Concept ID: C4477095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Edema
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Fluctuating hepatomegaly
Fluctuating hepatomegaly
- MedGen UID: 372149
- Concept ID: C1835881
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Diarrhea
- Abnormality of the eye
- Attenuation of retinal blood vessels
Attenuation of retinal blood vessels
- MedGen UID: 480605
- Concept ID: C3278975
- Finding: Finding
Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Nuclear cataract
Nuclear cataract
- MedGen UID: 140274
- Concept ID: C0392557
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Attenuation of retinal blood vessels
- Abnormality of the genitourinary system
- Elevated urine mevalonic acid level
Elevated urine mevalonic acid level
- MedGen UID: 1712812
- Concept ID: C5397655
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urine mevalonic acid level
- Abnormality of the immune system
- Fluctuating splenomegaly
Fluctuating splenomegaly
- MedGen UID: 322770
- Concept ID: C1835882
- Finding: Finding
Abnormality of the immune system
- Increased circulating IgD level
Increased circulating IgD level
- MedGen UID: 372146
- Concept ID: C1835869
- Finding: Finding
Abnormality of the immune system
- Leukocytosis
Leukocytosis
- MedGen UID: 9736
- Concept ID: C0023518
- Finding: Disease or Syndrome
Abnormality of the immune system
- Lymphadenopathy
Lymphadenopathy
- MedGen UID: 96929
- Concept ID: C0497156
- Finding: Disease or Syndrome
Abnormality of the immune system
- Morbilliform rash
Morbilliform rash
- MedGen UID: 115972
- Concept ID: C0234918
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Skin rash
Skin rash
- MedGen UID: 1830322
- Concept ID: C5779628
- Finding: Sign or Symptom
Abnormality of the immune system
- Fluctuating splenomegaly
- Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
- Abnormality of the nervous system
- Agenesis of cerebellar vermis
Agenesis of cerebellar vermis
- MedGen UID: 1768774
- Concept ID: C5437781
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Progressive cerebellar ataxia
Progressive cerebellar ataxia
- MedGen UID: 140727
- Concept ID: C0393525
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Agenesis of cerebellar vermis
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive in infancy
Failure to thrive in infancy
- MedGen UID: 358083
- Concept ID: C1867873
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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