MCID: NDL022
MIFTS: 29

Nodular Neuronal Heterotopia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nodular Neuronal Heterotopia

MalaCards integrated aliases for Nodular Neuronal Heterotopia:

Name: Nodular Neuronal Heterotopia 58 29

Characteristics:

Orphanet epidemiological data:

58
nodular neuronal heterotopia
Inheritance: Autosomal recessive,X-linked dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.8
Orphanet 58 ORPHA2149

Summaries for Nodular Neuronal Heterotopia

MalaCards based summary : Nodular Neuronal Heterotopia is related to hydrocephalus and periventricular nodular heterotopia. An important gene associated with Nodular Neuronal Heterotopia is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include brain and cortex, and related phenotypes are eeg abnormality and abnormality of neuronal migration

Related Diseases for Nodular Neuronal Heterotopia

Graphical network of the top 20 diseases related to Nodular Neuronal Heterotopia:



Diseases related to Nodular Neuronal Heterotopia

Symptoms & Phenotypes for Nodular Neuronal Heterotopia

Human phenotypes related to Nodular Neuronal Heterotopia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 abnormality of neuronal migration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002269
3 seizure 31 hallmark (90%) HP:0001250
4 seizures 58 Very frequent (99-80%)

Drugs & Therapeutics for Nodular Neuronal Heterotopia

Search Clinical Trials , NIH Clinical Center for Nodular Neuronal Heterotopia

Genetic Tests for Nodular Neuronal Heterotopia

Genetic tests related to Nodular Neuronal Heterotopia:

# Genetic test Affiliating Genes
1 Nodular Neuronal Heterotopia 29

Anatomical Context for Nodular Neuronal Heterotopia

MalaCards organs/tissues related to Nodular Neuronal Heterotopia:

40
Brain, Cortex

Publications for Nodular Neuronal Heterotopia

Articles related to Nodular Neuronal Heterotopia:

(show all 15)
# Title Authors PMID Year
1
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 6
23812912 2013
2
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 6
24056535 2013
3
Novel cardiac findings in periventricular nodular heterotopia. 6
20014127 2010
4
Filamin A mutation is one cause of FG syndrome. 6
17632775 2007
5
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 6
16299064 2006
6
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 6
15994863 2006
7
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 6
15668422 2005
8
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 6
14647276 2004
9
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 6
11914408 2002
10
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 6
11532987 2001
11
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 6
9883725 1998
12
Periventricular heterotopia and epilepsy. 6
8290091 1994
13
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
14
Characterization of nodular neuronal heterotopia in children. 61
10071051 1999
15
Neuronal migration disorders: a contribution of modern neuroimaging to the etiologic diagnosis of epilepsy. 61
1777874 1991

Variations for Nodular Neuronal Heterotopia

ClinVar genetic disease variations for Nodular Neuronal Heterotopia:

6 (show top 50) (show all 816)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARFGEF2 ARFGEF2, PRO81GLN, VAL83LEU, 249delA Deletion Pathogenic 5051
2 ARFGEF2 NM_006420.3(ARFGEF2):c.1958+1G>A SNV Pathogenic 89028 rs398122523 20:47592737-47592737 20:48976200-48976200
3 ARFGEF2 NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) Deletion Pathogenic 803610 rs1600623496 20:47588929-47588929 20:48972392-48972392
4 ARFGEF2 NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) SNV Pathogenic 803611 rs1380925561 20:47649632-47649632 20:49033095-49033095
5 FLNA NC_000023.10:g.(?_153576900)_(153599729_?)del Deletion Pathogenic 417354 X:153576900-153599729
6 FLNA NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) SNV Pathogenic 11747 rs137853310 X:153596288-153596288 X:154367920-154367920
7 FLNA NM_001110556.2(FLNA):c.720+2T>C SNV Pathogenic 11748 rs863223295 X:153596007-153596007 X:154367639-154367639
8 FLNA NM_001110556.2(FLNA):c.623-3C>G SNV Pathogenic 11749 rs398123622 X:153596109-153596109 X:154367741-154367741
9 FLNA NM_001110556.2(FLNA):c.373+1G>A SNV Pathogenic 11750 rs863223296 X:153599240-153599240 X:154370872-154370872
10 FLNA NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) Deletion Pathogenic 11751 rs863223297 X:153599323-153599327 X:154370955-154370959
11 FLNA NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) SNV Pathogenic 11752 rs137853311 X:153592950-153592950 X:154364582-154364582
12 FLNA NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) SNV Pathogenic 11753 rs781910090 X:153580057-153580057 X:154351689-154351689
13 FLNA NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) SNV Pathogenic 11754 rs28935169 X:153599369-153599369 X:154371001-154371001
14 FLNA NM_001110556.2(FLNA):c.2762del (p.Arg921fs) Deletion Pathogenic 11763 rs1569551736 X:153590411-153590411 X:154362043-154362043
15 FLNA NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) Deletion Pathogenic 11764 rs863223299 X:153587770-153587770 X:154359402-154359402
16 FLNA NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) SNV Pathogenic 11765 rs137853313 X:153599498-153599498 X:154371130-154371130
17 FLNA NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) SNV Pathogenic 11767 rs137853315 X:153596449-153596449 X:154368081-154368081
18 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Pathogenic 11770 rs80338841 X:153592993-153592993 X:154364625-154364625
19 ERMARD NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn) SNV Pathogenic 88869 rs398122410 6:170169706-170169706 6:169769610-169769610
20 FLNA NM_001110556.2(FLNA):c.1430-1G>T SNV Pathogenic 190178 rs786205177 X:153593855-153593855 X:154365487-154365487
21 FLNA NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) Deletion Pathogenic 190179 rs786205178 X:153580680-153580683 X:154352312-154352315
22 ARFGEF2 NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) Indel Pathogenic 434297 rs1555811929 20:47605926-47605927 20:48989389-48989390
23 FLNA NM_001110556.2(FLNA):c.2565+1G>C SNV Pathogenic 190187 rs786205186 X:153590785-153590785 X:154362417-154362417
24 FLNA NM_001110556.2(FLNA):c.1829-2A>G SNV Pathogenic 190184 rs786205183 X:153593089-153593089 X:154364721-154364721
25 FLNA NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) Duplication Pathogenic 93761 rs398123620 X:153587378-153587379 X:154359010-154359011
26 FLNA NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) Deletion Pathogenic 190202 rs786205201 X:153581163-153581164 X:154352795-154352796
27 FLNA NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) SNV Pathogenic 369957 rs1057516198 X:153587376-153587376 X:154359008-154359008
28 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic 405446 rs1060500717 X:153580594-153580594 X:154352226-154352226
29 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
30 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
31 LOC107988032 NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 X:153577381-153577382 X:154349013-154349014
32 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
33 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 X:153594986-153594987 X:154366618-154366619
34 FLNA NM_001110556.2(FLNA):c.82A>G (p.Met28Val) SNV Pathogenic 488068 rs1557180226 X:153599532-153599532 X:154371164-154371164
35 FLNA NM_001110556.2(FLNA):c.2280+389T>A SNV Pathogenic 488069 rs1557178535 X:153592001-153592001 X:154363633-154363633
36 FLNA NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) SNV Pathogenic 488066 rs1557179536 X:153595780-153595780 X:154367412-154367412
37 FLNA NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) SNV Pathogenic 488067 rs1557179325 X:153594930-153594930 X:154366562-154366562
38 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
39 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
40 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
41 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
42 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
43 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
44 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
45 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 X:153581806-153581807 X:154353438-154353439
46 LOC107988032 NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 X:153577288-153577289 X:154348920-154348921
47 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 X:153588859-153588867 X:154360491-154360499
48 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 X:153590899-153590899 X:154362531-154362531
49 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 X:153590785-153590785 X:154362417-154362417
50 FLNA NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) SNV Pathogenic 807601 rs1603358919 X:153579951-153579951 X:154351583-154351583

Expression for Nodular Neuronal Heterotopia

Search GEO for disease gene expression data for Nodular Neuronal Heterotopia.

Pathways for Nodular Neuronal Heterotopia

GO Terms for Nodular Neuronal Heterotopia

Cellular components related to Nodular Neuronal Heterotopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.62 FLNA ARFGEF2

Sources for Nodular Neuronal Heterotopia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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