MCID: PRV018
MIFTS: 21

Periventricular Nodular Heterotopia 7

Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Periventricular Nodular Heterotopia 7

MalaCards integrated aliases for Periventricular Nodular Heterotopia 7:

Name: Periventricular Nodular Heterotopia 7 57 75 29 6
Pvnh7 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth


HPO:

32
periventricular nodular heterotopia 7:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 7

UniProtKB/Swiss-Prot : 75 Periventricular nodular heterotopia 7: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly.

MalaCards based summary : Periventricular Nodular Heterotopia 7, is also known as pvnh7. An important gene associated with Periventricular Nodular Heterotopia 7 is NEDD4L (Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase). Affiliated tissues include brain, and related phenotypes are cryptorchidism and cleft palate

OMIM : 57 Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049. (617201)

Related Diseases for Periventricular Nodular Heterotopia 7

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
thin corpus callosum (in some patients)
poor or absent speech
more
Head And Neck Face:
micrognathia
dysmorphic facial features, variable (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal:
contractures (in some patients)

Head And Neck Ears:
hearing impairment (in some patients)

Head And Neck Mouth:
cleft palate

Head And Neck Eyes:
strabismus
optic atrophy (in some patients)

Skeletal Feet:
toe syndactyly, 2-3

Muscle Soft Tissue:
truncal hypotonia


Clinical features from OMIM:

617201

Human phenotypes related to Periventricular Nodular Heterotopia 7:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 cleft palate 32 HP:0000175
3 micrognathia 32 HP:0000347
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 strabismus 32 HP:0000486
6 optic atrophy 32 occasional (7.5%) HP:0000648
7 intellectual disability 32 HP:0001249
8 seizures 32 occasional (7.5%) HP:0001250
9 global developmental delay 32 HP:0001263
10 flexion contracture 32 occasional (7.5%) HP:0001371
11 abnormal facial shape 32 occasional (7.5%) HP:0001999
12 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
13 cortical dysplasia 32 occasional (7.5%) HP:0002539
14 2-3 toe syndactyly 32 HP:0004691
15 muscular hypotonia of the trunk 32 HP:0008936

Drugs & Therapeutics for Periventricular Nodular Heterotopia 7

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 7

Genetic Tests for Periventricular Nodular Heterotopia 7

Genetic tests related to Periventricular Nodular Heterotopia 7:

# Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 7 29 NEDD4L

Anatomical Context for Periventricular Nodular Heterotopia 7

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 7:

41
Brain

Publications for Periventricular Nodular Heterotopia 7

Variations for Periventricular Nodular Heterotopia 7

UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 7:

75
# Symbol AA change Variation ID SNP ID
1 NEDD4L p.Tyr679Cys VAR_077880 rs879255599
2 NEDD4L p.Gln694His VAR_077881 rs879255598
3 NEDD4L p.Glu893Lys VAR_077882 rs879255597
4 NEDD4L p.Arg897Gln VAR_077883 rs879255596

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEDD4L NM_001144967.2(NEDD4L): c.2036A> G (p.Tyr679Cys) single nucleotide variant Pathogenic rs879255599 GRCh37 Chromosome 18, 56033433: 56033433
2 NEDD4L NM_001144967.2(NEDD4L): c.2036A> G (p.Tyr679Cys) single nucleotide variant Pathogenic rs879255599 GRCh38 Chromosome 18, 58366201: 58366201
3 NEDD4L NM_001144967.2(NEDD4L): c.2082G> T (p.Gln694His) single nucleotide variant Pathogenic rs879255598 GRCh38 Chromosome 18, 58367764: 58367764
4 NEDD4L NM_001144967.2(NEDD4L): c.2082G> T (p.Gln694His) single nucleotide variant Pathogenic rs879255598 GRCh37 Chromosome 18, 56034996: 56034996
5 NEDD4L NM_001144967.2(NEDD4L): c.2677G> A (p.Glu893Lys) single nucleotide variant Pathogenic rs879255597 GRCh38 Chromosome 18, 58390667: 58390667
6 NEDD4L NM_001144967.2(NEDD4L): c.2677G> A (p.Glu893Lys) single nucleotide variant Pathogenic rs879255597 GRCh37 Chromosome 18, 56057899: 56057899
7 NEDD4L NM_001144967.2(NEDD4L): c.2690G> A (p.Arg897Gln) single nucleotide variant Pathogenic rs879255596 GRCh37 Chromosome 18, 56057912: 56057912
8 NEDD4L NM_001144967.2(NEDD4L): c.2690G> A (p.Arg897Gln) single nucleotide variant Pathogenic rs879255596 GRCh38 Chromosome 18, 58390680: 58390680

Expression for Periventricular Nodular Heterotopia 7

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 7.

Pathways for Periventricular Nodular Heterotopia 7

GO Terms for Periventricular Nodular Heterotopia 7

Sources for Periventricular Nodular Heterotopia 7

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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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