Hyperimmunoglobulin D with periodic fever
- Synonyms
- Hyper IgD Syndrome; Hyperimmunoglobulinemia D; Hyperimmunoglobulinemia D and periodic fever syndrome; Hyperimmunoglobulinemia D with periodic fever; Periodic fever Dutch type
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (64 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Oral ulcer
Oral ulcer
- MedGen UID: 57699
- Concept ID: C0149745
- Finding: Disease or Syndrome
Abnormality of head or neck
- Oral ulcer
- Abnormality of metabolism/homeostasis
- Elevated erythrocyte sedimentation rate
Elevated erythrocyte sedimentation rate
- MedGen UID: 57727
- Concept ID: C0151632
- Finding: Finding
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Elevated erythrocyte sedimentation rate
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
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
- Chronic diarrhea
- Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- 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
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Night blindness
- 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
- Chronic oral candidiasis
Chronic oral candidiasis
- MedGen UID: 870166
- Concept ID: C4024599
- Finding: Disease or Syndrome
Abnormality of the immune system
- Increased circulating IgA level
Increased circulating IgA level
- MedGen UID: 66800
- Concept ID: C0239984
- 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
- Lymphadenitis
Lymphadenitis
- MedGen UID: 7410
- Concept ID: C0024205
- 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
- Molluscum contagiosum
Molluscum contagiosum
- MedGen UID: 10081
- Concept ID: C0026393
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutrophilia
Neutrophilia
- MedGen UID: 57729
- Concept ID: C0151683
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Serositis
Serositis
- MedGen UID: 20711
- Concept ID: C0036749
- Finding: Pathologic Function
Abnormality of the immune system
- Skin rash
Skin rash
- MedGen UID: 1830322
- Concept ID: C5779628
- Finding: Sign or Symptom
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Chronic oral candidiasis
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthritis
- Abnormality of the nervous system
- Febrile seizure (within the age range of 3 months to 6 years)
Febrile seizure (within the age range of 3 months to 6 years)
- MedGen UID: 3232
- Concept ID: C0009952
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Febrile seizure (within the age range of 3 months to 6 years)
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Chills
Chills
- MedGen UID: 43211
- Concept ID: C0085593
- Finding: Sign or Symptom
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Ear malformation
- Vertigo
Vertigo
- MedGen UID: 53006
- Concept ID: C0042571
- Finding: Sign or Symptom
Ear malformation
- Vertigo
- Neoplasm
- Kidney angiomyolipoma
Kidney angiomyolipoma
- MedGen UID: 69146
- Concept ID: C0241961
- Finding: Neoplastic Process
Neoplasm
- Kidney angiomyolipoma
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