Aicardi-goutieres syndrome 9

Preferred Label : Aicardi-goutieres syndrome 9;

Symbol : AGS9;

Type : Phenotype, molecular basis known;

Prefixed ID : #619487;

Details

Origin ID

619487;

UMLS CUI

C5561966;

Genes related to phenotype
- Rna, u7 small nuclear, 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Acute pancreatitis [HPO term]
- Anemia [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral calcification [HPO term]
- Chilblains [HPO term]
- Chorioretinal atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Diffuse leukoencephalopathy [HPO term]
- Dilation of lateral ventricles [HPO term]
- Dry skin [HPO term]
- Dystonia [HPO term]
- Edema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Glomerular sclerosis [HPO term]
- Hemolytic anemia [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hypertension [HPO term]
- Hypertonia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypothyroidism [HPO term]
- Increased blood pressure [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Left ventricular hypertrophy [HPO term]
- Lower limb hypertonia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Osteoporosis [HPO term]
- Pericardial effusion [HPO term]
- Pericarditis [HPO term]
- Peripheral neuropathy [HPO term]
- Poikiloderma [HPO term]
- Portal hypertension [HPO term]
- Proteinuria [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Sensory neuropathy [HPO term]
- Sleep disturbance [HPO term]
- Spastic diplegia [HPO term]
- Spastic tetraparesis [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened glomerular basement membrane [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients