Familial acute necrotizing encephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO
ADANE
ANE
IIAE3
Recurrent acute necrotizing encephalopathy
Number of Symptoms 28
OrphanetNr: 88619
OMIM Id: 608033
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001259) Coma 65 / 7739
2
 (HPO:0001276) Hypertonia 317 / 7739
3
 (HPO:0002922) Increased CSF protein 27 / 7739
4
 (HPO:0002445) Tetraplegia rare [HPO:skoehler] 26 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0001298) Encephalopathy 72 / 7739
7
 (HPO:0002510) Spastic tetraplegia 54 / 7739
8
 (HPO:0001892) Abnormal bleeding 85 / 7739
9
 (HPO:0002181) Cerebral edema 19 / 7739
10
 (HPO:0002090) Pneumonia 59 / 7739
11
 (OMIM) Often an infecting organism cannot be identified 1 / 7739
12
 (OMIM) Extensor posturing 1 / 7739
13
 (OMIM) Gaze deviation 1 / 7739
14
 (OMIM) Spastic quadriplegia, residual mild-to-severe (in some patients) 1 / 7739
15
 (OMIM) Usually precipitated by viral infection (influenza A, influenza B, parainfluenza II, and Mycoplasma pneumoniae) 1 / 7739
16
 (OMIM) Encephalopathy, acute, sudden-onset after febrile illness 1 / 7739
17
 (OMIM) T2-weighted MRI shows hyperintensities in the thalamus, basal ganglia, and brainstem during acute illness (may later resolve) 1 / 7739
18
 (OMIM) Mental retardation, residual mild-to-severe (in some patients) 1 / 7739
19
 (HPO:0002171) Gliosis 48 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (OMIM) External capsule and claustrum may be involved 1 / 7739
22
 (HPO:0003829) Incomplete penetrance 85 / 7739
23
 (OMIM) Cellular necrosis 1 / 7739
24
 (OMIM) Variable outcome after acute illness 1 / 7739
25
 (OMIM) Altered breathing patterns during acute episodes 1 / 7739
26
 (OMIM) Altered breathing patterns 1 / 7739
27
 (OMIM) Increased CSF protein during acute illness 1 / 7739
28
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Neilson et al. (2003) reported a large family in which 11 individuals over 3 generations were affected with an autosomal dominant form of acute necrotizing encephalopathy (ADANE) following febrile illnesses. The family had originally been reported by Eiben ...
Molecular genetics OMIM In affected members of 10 unrelated families with acute necrotizing encephalopathy, including the family reported by Neilson et al. (2003, 2004), Neilson et al. (2009) identified a heterozygous mutation in the RANBP2 gene (T585M; 601181.0001). Haplotype analysis did ...