MCID: MCR347
MIFTS: 11

Macrocephaly and Epileptic Encephalopathy

Aliases & Classifications for Macrocephaly and Epileptic Encephalopathy

MalaCards integrated aliases for Macrocephaly and Epileptic Encephalopathy:

Name: Macrocephaly and Epileptic Encephalopathy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
one family has been reported
phenotype may be influenced by maternal alcohol consumption during pregnancy


HPO:

32
macrocephaly and epileptic encephalopathy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


External Ids:

OMIM 57 606369
MedGen 42 C3807541

Summaries for Macrocephaly and Epileptic Encephalopathy

MalaCards based summary : Macrocephaly and Epileptic Encephalopathy An important gene associated with Macrocephaly and Epileptic Encephalopathy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Related phenotypes are macrocephaly and low-set ears

More information from OMIM: 606369

Related Diseases for Macrocephaly and Epileptic Encephalopathy

Symptoms & Phenotypes for Macrocephaly and Epileptic Encephalopathy

Human phenotypes related to Macrocephaly and Epileptic Encephalopathy:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 ptosis 32 HP:0000508
4 dysphagia 32 HP:0002015
5 gingival overgrowth 32 HP:0000212
6 global developmental delay 32 HP:0001263
7 recurrent respiratory infections 32 HP:0002205
8 depressed nasal bridge 32 HP:0005280
9 abnormality of the dentition 32 HP:0000164
10 gastroesophageal reflux 32 HP:0002020
11 intellectual disability, severe 32 HP:0010864
12 tented upper lip vermilion 32 HP:0010804
13 generalized myoclonic seizures 32 HP:0002123
14 intellectual disability, progressive 32 HP:0006887
15 epileptic encephalopathy 32 HP:0200134
16 downslanted palpebral fissures 32 HP:0000494
17 high forehead 32 HP:0000348
18 frontotemporal cerebral atrophy 32 HP:0006892
19 hypoplasia of the corpus callosum 32 HP:0002079
20 posteriorly rotated ears 32 HP:0000358
21 abnormality of the periventricular white matter 32 HP:0002518
22 enlarged cisterna magna 32 HP:0002280
23 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Neurologic Central Nervous System:
enlarged cisterna magna
psychomotor retardation
enlarged ventricles
mental retardation, severe
thin corpus callosum
more
Head And Neck Mouth:
gingival hyperplasia
tented mouth

Head And Neck Teeth:
poor dental development

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Face:
high forehead

Head And Neck Nose:
low nasal bridge
small concave nose

Abdomen Gastrointestinal:
poor swallowing
gastroesophageal reflux disease

Immunology:
multiple respiratory infections

Clinical features from OMIM:

606369

Drugs & Therapeutics for Macrocephaly and Epileptic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Macrocephaly and Epileptic Encephalopathy

Genetic Tests for Macrocephaly and Epileptic Encephalopathy

Anatomical Context for Macrocephaly and Epileptic Encephalopathy

Publications for Macrocephaly and Epileptic Encephalopathy

Articles related to Macrocephaly and Epileptic Encephalopathy:

# Title Authors PMID Year
1
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. 71
16249883 2006
2
Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood? 8
11745991 2001

Variations for Macrocephaly and Epileptic Encephalopathy

ClinVar genetic disease variations for Macrocephaly and Epileptic Encephalopathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_006920.6(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 2:166848878-166848878 2:165992368-165992368
2 MAPK10 MAPK10, EX10-14DEL deletion Uncertain significance

Expression for Macrocephaly and Epileptic Encephalopathy

Search GEO for disease gene expression data for Macrocephaly and Epileptic Encephalopathy.

Pathways for Macrocephaly and Epileptic Encephalopathy

GO Terms for Macrocephaly and Epileptic Encephalopathy

Sources for Macrocephaly and Epileptic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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