ARPHM
MCID: PRV020
MIFTS: 26

Periventricular Heterotopia with Microcephaly, Autosomal Recessive (ARPHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Periventricular Heterotopia with Microcephaly, Autosomal...

MalaCards integrated aliases for Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

Name: Periventricular Heterotopia with Microcephaly, Autosomal Recessive 57
Heterotopia, Periventricular, Autosomal Recessive 57 29 6 39 70
Periventricular Heterotopia with Microcephaly 57 29 13
Periventricular Nodular Heterotopia 2 57 72
Arphm 57 72
Pvnh2 57 72
Periventricular Heterotopia with Microcephaly Autosomal Recessive 72
Autosomal Recessive Periventricular Nodular Heterotopia Type 2 72
Periventricular Heterotopia Autosomal Recessive 72
Periventricular Nodular Heterotopia 2; Pvnh2 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
periventricular heterotopia with microcephaly, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 608097
OMIM Phenotypic Series 57 PS300049
MeSH 44 D054091
MedGen 41 C1842563
UMLS 70 C1842563

Summaries for Periventricular Heterotopia with Microcephaly, Autosomal...

UniProtKB/Swiss-Prot : 72 Periventricular nodular heterotopia 2: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.

MalaCards based summary : Periventricular Heterotopia with Microcephaly, Autosomal Recessive, is also known as heterotopia, periventricular, autosomal recessive, and has symptoms including seizures and quadriparesis. An important gene associated with Periventricular Heterotopia with Microcephaly, Autosomal Recessive is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include cortex and eye, and related phenotypes are failure to thrive and global developmental delay

More information from OMIM: 608097 PS300049

Related Diseases for Periventricular Heterotopia with Microcephaly, Autosomal...

Symptoms & Phenotypes for Periventricular Heterotopia with Microcephaly, Autosomal...

Human phenotypes related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 global developmental delay 31 HP:0001263
3 intellectual disability, severe 31 HP:0010864
4 hypoplasia of the corpus callosum 31 HP:0002079
5 poor eye contact 31 HP:0000817
6 tetraparesis 31 HP:0002273
7 generalized hypotonia 31 HP:0001290
8 hypsarrhythmia 31 HP:0002521
9 periventricular heterotopia 31 HP:0007165
10 progressive microcephaly 31 HP:0000253
11 periventricular nodular heterotopia 31 HP:0032388
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypsarrhythmia
quadriparesis
mental retardation, severe
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, progressive (-3 to -5 sd)

Head And Neck Eyes:
poor eye contact

Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

608097 (Updated 05-Apr-2021)

UMLS symptoms related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:


seizures; quadriparesis

Drugs & Therapeutics for Periventricular Heterotopia with Microcephaly, Autosomal...

Search Clinical Trials , NIH Clinical Center for Periventricular Heterotopia with Microcephaly, Autosomal Recessive

Genetic Tests for Periventricular Heterotopia with Microcephaly, Autosomal...

Genetic tests related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Periventricular Heterotopia with Microcephaly 29
2 Heterotopia, Periventricular, Autosomal Recessive 29 ARFGEF2

Anatomical Context for Periventricular Heterotopia with Microcephaly, Autosomal...

MalaCards organs/tissues related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

40
Cortex, Eye

Publications for Periventricular Heterotopia with Microcephaly, Autosomal...

Articles related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

# Title Authors PMID Year
1
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 6 57
23812912 2013
2
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 57 6
14647276 2004
3
Autosomal recessive form of periventricular heterotopia. 57
12682315 2003
4
Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene. 61
20857375 2010
5
BIG1 and BIG2, brefeldin A-inhibited guanine nucleotide-exchange factors for ADP-ribosylation factors. 61
16413268 2005

Variations for Periventricular Heterotopia with Microcephaly, Autosomal...

ClinVar genetic disease variations for Periventricular Heterotopia with Microcephaly, Autosomal Recessive:

6 (show top 50) (show all 152)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARFGEF2 ARFGEF2, PRO81GLN, VAL83LEU, 249delA Deletion Pathogenic 5051 GRCh37:
GRCh38:
2 ARFGEF2 NM_006420.3(ARFGEF2):c.1958+1G>A SNV Pathogenic 89028 rs398122523 GRCh37: 20:47592737-47592737
GRCh38: 20:48976200-48976200
3 ARFGEF2 NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) Deletion Pathogenic 803610 rs1600623496 GRCh37: 20:47588929-47588929
GRCh38: 20:48972392-48972392
4 ARFGEF2 NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) SNV Pathogenic 803611 rs1380925561 GRCh37: 20:47649632-47649632
GRCh38: 20:49033095-49033095
5 ARFGEF2 NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) Indel Pathogenic 434297 rs1555811929 GRCh37: 20:47605926-47605927
GRCh38: 20:48989389-48989390
6 ARFGEF2 NM_006420.3(ARFGEF2):c.1466C>G (p.Ser489Ter) SNV Pathogenic 1033102 GRCh37: 20:47588903-47588903
GRCh38: 20:48972366-48972366
7 ARFGEF2 NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) Deletion Likely pathogenic 930714 GRCh37: 20:47632905-47632905
GRCh38: 20:49016368-49016368
8 ARFGEF2 NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) SNV Conflicting interpretations of pathogenicity 5050 rs28937880 GRCh37: 20:47570114-47570114
GRCh38: 20:48953577-48953577
9 ARFGEF2 NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile) SNV Uncertain significance 1033101 GRCh37: 20:47585729-47585729
GRCh38: 20:48969192-48969192
10 ARFGEF2 NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) SNV Uncertain significance 210235 rs151045115 GRCh37: 20:47614885-47614885
GRCh38: 20:48998348-48998348
11 ARFGEF2 NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) SNV Uncertain significance 210239 rs139037316 GRCh37: 20:47628595-47628595
GRCh38: 20:49012058-49012058
12 ARFGEF2 NM_006420.3(ARFGEF2):c.1425+15G>A SNV Uncertain significance 338688 rs374522450 GRCh37: 20:47587906-47587906
GRCh38: 20:48971369-48971369
13 ARFGEF2 NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) SNV Uncertain significance 128427 rs117131028 GRCh37: 20:47587741-47587741
GRCh38: 20:48971204-48971204
14 ARFGEF2 NM_006420.3(ARFGEF2):c.-43G>A SNV Uncertain significance 338679 rs370864802 GRCh37: 20:47538384-47538384
GRCh38: 20:48921847-48921847
15 ARFGEF2 NM_006420.3(ARFGEF2):c.2260A>G (p.Ile754Val) SNV Uncertain significance 1033103 GRCh37: 20:47602134-47602134
GRCh38: 20:48985597-48985597
16 ARFGEF2 NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln) SNV Uncertain significance 813556 GRCh37: 20:47567921-47567921
GRCh38: 20:48951384-48951384
17 ARFGEF2 NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val) SNV Uncertain significance 1033104 GRCh37: 20:47626902-47626902
GRCh38: 20:49010365-49010365
18 ARFGEF2 NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) SNV Uncertain significance 338705 rs145439001 GRCh37: 20:47645205-47645205
GRCh38: 20:49028668-49028668
19 ARFGEF2 NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln) SNV Uncertain significance 898243 GRCh37: 20:47605846-47605846
GRCh38: 20:48989309-48989309
20 ARFGEF2 NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) SNV Uncertain significance 128433 rs73113975 GRCh37: 20:47558417-47558417
GRCh38: 20:48941880-48941880
21 ARFGEF2 NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) SNV Uncertain significance 128445 rs149172723 GRCh37: 20:47570296-47570296
GRCh38: 20:48953759-48953759
22 ARFGEF2 NM_006420.3(ARFGEF2):c.3456T>C (p.Asp1152=) SNV Uncertain significance 434286 rs145545997 GRCh37: 20:47621630-47621630
GRCh38: 20:49005093-49005093
23 ARFGEF2 NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=) SNV Uncertain significance 434282 rs368844677 GRCh37: 20:47605928-47605928
GRCh38: 20:48989391-48989391
24 ARFGEF2 NM_006420.3(ARFGEF2):c.*2451A>C SNV Uncertain significance 338735 rs886056770 GRCh37: 20:47652187-47652187
GRCh38: 20:49035650-49035650
25 ARFGEF2 NM_006420.3(ARFGEF2):c.2686-9C>T SNV Uncertain significance 128434 rs200945599 GRCh37: 20:47606084-47606084
GRCh38: 20:48989547-48989547
26 ARFGEF2 NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg) SNV Uncertain significance 338695 rs149644732 GRCh37: 20:47611060-47611060
GRCh38: 20:48994523-48994523
27 ARFGEF2 NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) SNV Uncertain significance 128446 rs143570842 GRCh37: 20:47570300-47570300
GRCh38: 20:48953763-48953763
28 ARFGEF2 NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) SNV Uncertain significance 210228 rs146772848 GRCh37: 20:47592666-47592666
GRCh38: 20:48976129-48976129
29 ARFGEF2 NM_006420.3(ARFGEF2):c.2815-7G>A SNV Uncertain significance 128435 rs187176143 GRCh37: 20:47607570-47607570
GRCh38: 20:48991033-48991033
30 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=) SNV Uncertain significance 128436 rs61748373 GRCh37: 20:47612375-47612375
GRCh38: 20:48995838-48995838
31 ARFGEF2 NM_006420.3(ARFGEF2):c.847G>A (p.Asp283Asn) SNV Uncertain significance 338682 rs372150935 GRCh37: 20:47580375-47580375
GRCh38: 20:48963838-48963838
32 ARFGEF2 NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) SNV Uncertain significance 798173 rs200473895 GRCh37: 20:47633816-47633816
GRCh38: 20:49017279-49017279
33 ARFGEF2 NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) SNV Uncertain significance 718061 rs192383756 GRCh37: 20:47587795-47587795
GRCh38: 20:48971258-48971258
34 ARFGEF2 NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) SNV Uncertain significance 128432 rs147534008 GRCh37: 20:47589800-47589800
GRCh38: 20:48973263-48973263
35 ARFGEF2 NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) SNV Uncertain significance 128441 rs151221957 GRCh37: 20:47634040-47634040
GRCh38: 20:49017503-49017503
36 ARFGEF2 NM_006420.3(ARFGEF2):c.1015G>C (p.Gly339Arg) SNV Uncertain significance 982854 GRCh37: 20:47582516-47582516
GRCh38: 20:48965979-48965979
37 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) SNV Uncertain significance 210234 rs61748373 GRCh37: 20:47612375-47612375
GRCh38: 20:48995838-48995838
38 ARFGEF2 NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) SNV Uncertain significance 210231 rs770578384 GRCh37: 20:47602127-47602127
GRCh38: 20:48985590-48985590
39 ARFGEF2 NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His) SNV Uncertain significance 338681 rs140989375 GRCh37: 20:47570184-47570184
GRCh38: 20:48953647-48953647
40 ARFGEF2 NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=) SNV Uncertain significance 210241 rs201206379 GRCh37: 20:47633802-47633802
GRCh38: 20:49017265-49017265
41 ARFGEF2 NM_006420.3(ARFGEF2):c.*2898C>T SNV Uncertain significance 338746 rs562341163 GRCh37: 20:47652634-47652634
GRCh38: 20:49036097-49036097
42 ARFGEF2 NM_006420.3(ARFGEF2):c.*1932A>G SNV Uncertain significance 338729 rs886056767 GRCh37: 20:47651668-47651668
GRCh38: 20:49035131-49035131
43 ARFGEF2 NM_006420.3(ARFGEF2):c.4526G>A (p.Arg1509His) SNV Uncertain significance 338703 rs774033935 GRCh37: 20:47635437-47635437
GRCh38: 20:49018900-49018900
44 ARFGEF2 NM_006420.3(ARFGEF2):c.1294A>G (p.Ile432Val) SNV Uncertain significance 338686 rs41296207 GRCh37: 20:47587760-47587760
GRCh38: 20:48971223-48971223
45 ARFGEF2 NM_006420.3(ARFGEF2):c.*215G>T SNV Uncertain significance 338712 rs886056760 GRCh37: 20:47649951-47649951
GRCh38: 20:49033414-49033414
46 ARFGEF2 NM_006420.3(ARFGEF2):c.3507T>G (p.Leu1169=) SNV Uncertain significance 338696 rs117818460 GRCh37: 20:47621681-47621681
GRCh38: 20:49005144-49005144
47 ARFGEF2 NM_006420.3(ARFGEF2):c.4061T>C (p.Val1354Ala) SNV Uncertain significance 338698 rs771148216 GRCh37: 20:47630379-47630379
GRCh38: 20:49013842-49013842
48 ARFGEF2 NM_006420.3(ARFGEF2):c.*2014T>G SNV Uncertain significance 338732 rs886056768 GRCh37: 20:47651750-47651750
GRCh38: 20:49035213-49035213
49 ARFGEF2 NM_006420.3(ARFGEF2):c.1064C>T (p.Ser355Leu) SNV Uncertain significance 338684 rs886056752 GRCh37: 20:47585688-47585688
GRCh38: 20:48969151-48969151
50 ARFGEF2 NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile) SNV Uncertain significance 587411 rs1568729284 GRCh37: 20:47614770-47614770
GRCh38: 20:48998233-48998233

Expression for Periventricular Heterotopia with Microcephaly, Autosomal...

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Sources for Periventricular Heterotopia with Microcephaly, Autosomal...

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
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41 MedGen
44 MeSH
45 MESH via Orphanet
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50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
70 UMLS
71 UMLS via Orphanet
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