MCID: PRV020
MIFTS: 19

Periventricular Heterotopia with Microcephaly, Autosomal Recessive

Categories: Genetic 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 40 73
Periventricular Heterotopia with Microcephaly 57 13
Periventricular Nodular Heterotopia 2 57 75
Arphm 57 75
Pvnh2 57 75
Periventricular Heterotopia with Microcephaly Autosomal Recessive 75
Autosomal Recessive Periventricular Nodular Heterotopia Type 2 75
Periventricular Heterotopia Autosomal Recessive 75
Periventricular Nodular Heterotopia 2; Pvnh2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
periventricular heterotopia with microcephaly, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Periventricular Heterotopia with Microcephaly, Autosomal...

UniProtKB/Swiss-Prot : 75 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 brain, cortex and eye, and related phenotypes are seizures and failure to thrive

Description from OMIM: 608097

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 occasional (7.5%) HP:0001508
3 global developmental delay 32 HP:0001263
4 intellectual disability, severe 32 HP:0010864
5 hypoplasia of the corpus callosum 32 HP:0002079
6 tetraparesis 32 HP:0002273
7 generalized hypotonia 32 HP:0001290
8 hypsarrhythmia 32 HP:0002521
9 periventricular gray matter heterotopia 32 HP:0007165
10 progressive microcephaly 32 HP:0000253
11 poor eye contact 32 HP:0000817

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 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:

41
Brain, Cortex, Eye

Publications for Periventricular Heterotopia with Microcephaly, Autosomal...

Variations for Periventricular Heterotopia with Microcephaly, Autosomal...

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARFGEF2 ARFGEF2, PRO81GLN, VAL83LEU, 249delA deletion Pathogenic
2 ARFGEF2 NM_006420.2(ARFGEF2): c.1958+1G> A single nucleotide variant Pathogenic rs398122523 GRCh37 Chromosome 20, 47592737: 47592737
3 ARFGEF2 NM_006420.2(ARFGEF2): c.1958+1G> A single nucleotide variant Pathogenic rs398122523 GRCh38 Chromosome 20, 48976200: 48976200
4 ARFGEF2 NM_006420.2(ARFGEF2): c.1062_1067delATCGGA (p.Glu354_Ser355del) deletion Uncertain significance GRCh37 Chromosome 20, 47585686: 47585691
5 ARFGEF2 NM_006420.2(ARFGEF2): c.1062_1067delATCGGA (p.Glu354_Ser355del) deletion Uncertain significance GRCh38 Chromosome 20, 48969149: 48969154
6 ARFGEF2 NM_006420.2(ARFGEF2): c.2638_2639delCCinsT (p.Pro880Cysfs) indel Pathogenic GRCh37 Chromosome 20, 47605926: 47605927
7 ARFGEF2 NM_006420.2(ARFGEF2): c.2638_2639delCCinsT (p.Pro880Cysfs) indel Pathogenic GRCh38 Chromosome 20, 48989389: 48989390

Expression for Periventricular Heterotopia with Microcephaly, Autosomal...

Search GEO for disease gene expression data for Periventricular Heterotopia with Microcephaly, Autosomal Recessive.

Pathways for Periventricular Heterotopia with Microcephaly, Autosomal...

GO Terms for Periventricular Heterotopia with Microcephaly, Autosomal...

Sources for Periventricular Heterotopia with Microcephaly, Autosomal...

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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