IIAE9
MCID: ENC070
MIFTS: 16

Encephalopathy, Acute, Infection-Induced 9 (IIAE9)

Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Acute, Infection-Induced 9

MalaCards integrated aliases for Encephalopathy, Acute, Infection-Induced 9:

Name: Encephalopathy, Acute, Infection-Induced 9 57
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 9 57 6
Iiae9 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
neurodegeneration triggered by febrile illness


Classifications:



External Ids:

Summaries for Encephalopathy, Acute, Infection-Induced 9

OMIM : 57 Susceptibility to acute infection-induced encephalopathy-9 (IIAE9) is an autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness. Patients present in the first months or years of life, often after normal or only mildly delayed early development. Some patients may have partial recovery between episodes, such as transient ataxia, but the overall disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy (summary by Fichtman et al., 2019). For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. (618426)

MalaCards based summary : Encephalopathy, Acute, Infection-Induced 9, is also known as encephalopathy, acute, infection-induced, susceptibility to, 9. An important gene associated with Encephalopathy, Acute, Infection-Induced 9 is NUP214 (Nucleoporin 214).

Related Diseases for Encephalopathy, Acute, Infection-Induced 9

Symptoms & Phenotypes for Encephalopathy, Acute, Infection-Induced 9

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
global developmental delay
cerebellar atrophy
cerebral atrophy
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Respiratory:
breathing difficulties

Growth Other:
failure to thrive
poor overall growth

Muscle Soft Tissue:
hypertonia
hypotonia

Laboratory Abnormalities:
hyponatremia

Clinical features from OMIM:

618426

Drugs & Therapeutics for Encephalopathy, Acute, Infection-Induced 9

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Acute, Infection-Induced 9

Genetic Tests for Encephalopathy, Acute, Infection-Induced 9

Anatomical Context for Encephalopathy, Acute, Infection-Induced 9

Publications for Encephalopathy, Acute, Infection-Induced 9

Articles related to Encephalopathy, Acute, Infection-Induced 9:

# Title Authors PMID Year
1
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. 8 71
31178128 2019
2
NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 8 71
30758658 2019

Variations for Encephalopathy, Acute, Infection-Induced 9

ClinVar genetic disease variations for Encephalopathy, Acute, Infection-Induced 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NUP214 NM_005085.4(NUP214): c.112C> T (p.Arg38Cys) single nucleotide variant Likely pathogenic,risk factor 9:134002977-134002977 9:131127590-131127590
2 NUP214 NM_005085.4(NUP214): c.461A> G (p.Asp154Gly) single nucleotide variant risk factor 9:134004733-134004733 9:131129346-131129346
3 NUP214 NM_005085.4(NUP214): c.1159C> T (p.Pro387Ser) single nucleotide variant risk factor 9:134015962-134015962 9:131140575-131140575
4 NUP214 NM_005085.4(NUP214): c.1574del (p.Pro525fs) deletion risk factor 9:134019946-134019946 9:131144559-131144559

Expression for Encephalopathy, Acute, Infection-Induced 9

Search GEO for disease gene expression data for Encephalopathy, Acute, Infection-Induced 9.

Pathways for Encephalopathy, Acute, Infection-Induced 9

GO Terms for Encephalopathy, Acute, Infection-Induced 9

Sources for Encephalopathy, Acute, Infection-Induced 9

3 CDC
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10 dbSNP
11 DGIdb
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18 ExPASy
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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