EIEE73
MCID: EPL238
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 73 (EIEE73)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 73

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 73:

Name: Epileptic Encephalopathy, Early Infantile, 73 58 6
Eiee73 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
three unrelated patients have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618379

Summaries for Epileptic Encephalopathy, Early Infantile, 73

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 73, is also known as eiee73. An important gene associated with Epileptic Encephalopathy, Early Infantile, 73 is RNF13 (Ring Finger Protein 13). Affiliated tissues include bone, liver and eye.

Description from OMIM: 618379

Related Diseases for Epileptic Encephalopathy, Early Infantile, 73

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 73

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Muscle Soft Tissue:
inguinal hernia
hypertonia
hypotonia

Skeletal Limbs:
hip dysplasia

Neurologic Central Nervous System:
epileptic encephalopathy
restlessness
delayed myelination
thin corpus callosum
inability to hold head
more
Skeletal:
delayed bone age
contractures

Abdomen Gastrointestinal:
tube feeding

Laboratory Abnormalities:
increased alpha-fetoprotein in maternal serum (1 patient)

Skeletal Spine:
scoliosis

Head And Neck Eyes:
cataract
cortical visual impairment
no tracking
no fixation

Head And Neck Nose:
short nose
narrow nasal bridge

Head And Neck Face:
narrow forehead
midface hypoplasia
small chin

Head And Neck Ears:
sensorineural deafness

Head And Neck Head:
microcephaly (-2 to -5.5 sd)

Clinical features from OMIM:

618379

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 73

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 73

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 73

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 73

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 73:

42
Bone, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 73

Articles related to Epileptic Encephalopathy, Early Infantile, 73:

# Title Authors Year
1
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. ( 30595371 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 73

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 73:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF13 NM_007282.4(RNF13): c.932T> C (p.Leu311Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 149960890: 149960890
2 RNF13 NM_007282.4(RNF13): c.932T> C (p.Leu311Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 149678677: 149678677
3 RNF13 NM_007282.4(RNF13): c.935T> C (p.Leu312Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 149678680: 149678680
4 RNF13 NM_007282.4(RNF13): c.935T> C (p.Leu312Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 149960893: 149960893

Expression for Epileptic Encephalopathy, Early Infantile, 73

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 73.

Pathways for Epileptic Encephalopathy, Early Infantile, 73

GO Terms for Epileptic Encephalopathy, Early Infantile, 73

Sources for Epileptic Encephalopathy, Early Infantile, 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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