IIAE9
MCID: ENC070
MIFTS: 21

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 56
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 9 56 6
Iiae9 56 73
Encephalopathy, Acute, Infection-Induced, 9 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
encephalopathy, acute, infection-induced 9:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



Summaries for Encephalopathy, Acute, Infection-Induced 9

OMIM : 56 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 phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 73 Encephalopathy, acute, infection-induced, 9: An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy.

Related Diseases for Encephalopathy, Acute, Infection-Induced 9

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

Human phenotypes related to Encephalopathy, Acute, Infection-Induced 9:

31 (showing 15, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 spasticity 31 HP:0001257
3 failure to thrive 31 HP:0001508
4 ataxia 31 HP:0001251
5 developmental regression 31 HP:0002376
6 global developmental delay 31 HP:0001263
7 feeding difficulties 31 HP:0011968
8 microcephaly 31 HP:0000252
9 gastroesophageal reflux 31 HP:0002020
10 myoclonus 31 HP:0001336
11 generalized hypotonia 31 HP:0001290
12 respiratory distress 31 HP:0002098
13 hyponatremia 31 HP:0002902
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
ataxia
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:

(showing 2, show less)
# Title Authors PMID Year
1
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. 56 6
31178128 2019
2
NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 56 6
30758658 2019

Variations for Encephalopathy, Acute, Infection-Induced 9

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

6 (showing 4, show less) ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP214 NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)SNV Likely pathogenic,risk factor 545116 rs143595616 9:134002977-134002977 9:131127590-131127590
2 NUP214 NM_005085.4(NUP214):c.461A>G (p.Asp154Gly)SNV risk factor 634922 rs1564175808 9:134004733-134004733 9:131129346-131129346
3 NUP214 NM_005085.4(NUP214):c.1159C>T (p.Pro387Ser)SNV risk factor 634924 rs563025075 9:134015962-134015962 9:131140575-131140575
4 NUP214 NM_005085.4(NUP214):c.1574del (p.Pro525fs)deletion risk factor 634925 rs1210153519 9:134019942-134019942 9:131144555-131144555

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Acute, Infection-Induced 9:

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 NUP214 p.Arg38Cys VAR_082629
2 NUP214 p.Pro387Ser VAR_082631

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

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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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