DEE73
MCID: DVL097
MIFTS: 25

Developmental and Epileptic Encephalopathy 73 (DEE73)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 73

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 73:

Name: Developmental and Epileptic Encephalopathy 73 57 12
Developmental and Epileptic Encephalopathy, 73 29 6
Epileptic Encephalopathy, Early Infantile, 73 57 72
Eiee73 57 72
Dee73 57 12
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy 58
Epileptic Encephalopathy, Early Infantile, 73; Eiee73 57
Early Infantile Epileptic Encephalopathy 73 12
Rnf13-Related Severe Eoee 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in the first months of life
three unrelated patients have been reported (last curated november 2020)


HPO:

31
developmental and epileptic encephalopathy 73:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Developmental and Epileptic Encephalopathy 73

OMIM® : 57 Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by Edvardson et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618379) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 73, is also known as developmental and epileptic encephalopathy, 73. An important gene associated with Developmental and Epileptic Encephalopathy 73 is RNF13 (Ring Finger Protein 13). Affiliated tissues include eye and bone, and related phenotypes are spasticity and failure to thrive

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has material basis in heterozygous mutation in RNF13 on chromosome 3q25.1.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 73: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE73 is an autosomal dominant form with onset at birth.

Related Diseases for Developmental and Epileptic Encephalopathy 73

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 73

Human phenotypes related to Developmental and Epileptic Encephalopathy 73:

58 31 (showing 50, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
5 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
8 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
9 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
10 narrow nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000446
11 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
12 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
13 restlessness 58 31 frequent (33%) Frequent (79-30%) HP:0000711
14 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
15 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
16 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
17 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
18 short chin 58 31 frequent (33%) Frequent (79-30%) HP:0000331
19 epileptic encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0200134
20 eeg with generalized slow activity 58 31 frequent (33%) Frequent (79-30%) HP:0010845
21 visual fixation instability 58 31 frequent (33%) Frequent (79-30%) HP:0025405
22 eeg with focal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0011185
23 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
24 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
25 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
26 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
27 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
28 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
29 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
30 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
31 nail dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002164
32 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
33 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
34 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
35 metacarpophalangeal joint contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006070
36 abnormal vitamin b12 level 58 31 occasional (7.5%) Occasional (29-5%) HP:0040126
37 edema of the dorsum of hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0007514
38 edema of the dorsum of feet 58 31 occasional (7.5%) Occasional (29-5%) HP:0012098
39 finger joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0006094
40 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
41 hyperextensibility at wrists 58 31 occasional (7.5%) Occasional (29-5%) HP:0005072
42 high maternal serum alpha-fetoprotein 58 31 occasional (7.5%) Occasional (29-5%) HP:0011432
43 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
44 hypertonia 58 31 Frequent (79-30%) HP:0001276
45 seizures 58 Frequent (79-30%)
46 abnormality of eye movement 58 Frequent (79-30%)
47 joint hypermobility 58 Occasional (29-5%)
48 feeding difficulties 58 Frequent (79-30%)
49 generalized tonic-clonic seizures 58 Occasional (29-5%)
50 interictal eeg abnormality 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

Skeletal Limbs:
hip dysplasia

Neurologic Central Nervous System:
restlessness
epileptic encephalopathy
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

Muscle Soft Tissue:
inguinal hernia
hypertonia
hypotonia

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 (in some patients)

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

Clinical features from OMIM®:

618379 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 73

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 73

Genetic Tests for Developmental and Epileptic Encephalopathy 73

Genetic tests related to Developmental and Epileptic Encephalopathy 73:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 73 29 RNF13

Anatomical Context for Developmental and Epileptic Encephalopathy 73

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 73:

40
Eye, Bone

Publications for Developmental and Epileptic Encephalopathy 73

Articles related to Developmental and Epileptic Encephalopathy 73:

(showing 1, show less)
# Title Authors PMID Year
1
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. 57 6
30595371 2019

Variations for Developmental and Epileptic Encephalopathy 73

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 73:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF13 NM_007282.4(RNF13):c.932T>C (p.Leu311Ser) SNV Pathogenic 625147 rs1559980771 GRCh37: 3:149678677-149678677
GRCh38: 3:149960890-149960890
2 RNF13 NM_007282.4(RNF13):c.935T>C (p.Leu312Pro) SNV Pathogenic 625148 rs1559980785 GRCh37: 3:149678680-149678680
GRCh38: 3:149960893-149960893

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 73:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 RNF13 p.Leu311Ser VAR_082117
2 RNF13 p.Leu312Pro VAR_082118

Expression for Developmental and Epileptic Encephalopathy 73

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 73.

Pathways for Developmental and Epileptic Encephalopathy 73

GO Terms for Developmental and Epileptic Encephalopathy 73

Sources for Developmental and Epileptic Encephalopathy 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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