Aicardi-Goutieres syndrome 1
- Synonyms
- CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; PSEUDOTOXOPLASMOSIS SYNDROME
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Yanick J Crow
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (61 available)
Clinical features
Help- 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
- Thrombocytopenia
- 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
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Vasculitis
Vasculitis
- MedGen UID: 12054
- Concept ID: C0042384
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Gastric polyposis
Gastric polyposis
- MedGen UID: 68629
- Concept ID: C0236048
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the endocrine system
- Diabetes insipidus
Diabetes insipidus
- MedGen UID: 8349
- Concept ID: C0011848
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Diabetes insipidus
- Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
- Abnormality of the immune system
- Antiphospholipid antibody positivity
Antiphospholipid antibody positivity
- MedGen UID: 866404
- Concept ID: C4019436
- Finding: Finding
Abnormality of the immune system
- Chilblains
Chilblains
- MedGen UID: 886
- Concept ID: C0008058
- Finding: Injury or Poisoning
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Antiphospholipid antibody positivity
- Abnormality of the integument
- Acrocyanosis
Acrocyanosis
- MedGen UID: 65138
- Concept ID: C0221347
- Finding: Finding
Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Petechiae
Petechiae
- MedGen UID: 10680
- Concept ID: C0031256
- Finding: Disease or Syndrome
Abnormality of the integument
- Purpura
Purpura
- MedGen UID: 19584
- Concept ID: C0034150
- Finding: Disease or Syndrome
Abnormality of the integument
- Acrocyanosis
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Basal ganglia calcification
Basal ganglia calcification
- MedGen UID: 234651
- Concept ID: C1389280
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Cerebellar calcifications
Cerebellar calcifications
- MedGen UID: 338697
- Concept ID: C1851431
- Finding: Finding
Abnormality of the musculoskeletal system
- Intracerebral periventricular calcifications
Intracerebral periventricular calcifications
- MedGen UID: 373287
- Concept ID: C1837246
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive microcephaly
Progressive microcephaly
- MedGen UID: 340542
- Concept ID: C1850456
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Abnormal pyramidal tract morphology
Abnormal pyramidal tract morphology
- MedGen UID: 892809
- Concept ID: C4021761
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Abnormality of extrapyramidal motor function
Abnormality of extrapyramidal motor function
- MedGen UID: 115941
- Concept ID: C0234133
- Finding: Sign or Symptom
Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- CNS demyelination
CNS demyelination
- MedGen UID: 137898
- Concept ID: C0338474
- Finding: Disease or Syndrome
Abnormality of the nervous system
- CSF lymphocytic pleiocytosis
CSF lymphocytic pleiocytosis
- MedGen UID: 140894
- Concept ID: C0427877
- Finding: Laboratory or Test Result
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chronic CSF lymphocytosis
Chronic CSF lymphocytosis
- MedGen UID: 869799
- Concept ID: C4024229
- Finding: Finding
Abnormality of the nervous system
- Deep white matter hypodensities
Deep white matter hypodensities
- MedGen UID: 347347
- Concept ID: C1856979
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Increased CSF interferon alpha
Increased CSF interferon alpha
- MedGen UID: 341667
- Concept ID: C1856983
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, profound
Intellectual disability, profound
- MedGen UID: 892508
- Concept ID: C3161330
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Leukoencephalopathy
Leukoencephalopathy
- MedGen UID: 78722
- Concept ID: C0270612
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Progressive encephalopathy
Progressive encephalopathy
- MedGen UID: 333129
- Concept ID: C1838578
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Self-mutilation
Self-mutilation
- MedGen UID: 19925
- Concept ID: C0036601
- Finding: Injury or Poisoning
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal pyramidal tract morphology
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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