PVNH7
MCID: PRV018
MIFTS: 26

Periventricular Nodular Heterotopia 7 (PVNH7)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Periventricular Nodular Heterotopia 7

MalaCards integrated aliases for Periventricular Nodular Heterotopia 7:

Name: Periventricular Nodular Heterotopia 7 57 72 29 6
Pvnh7 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset at birth


HPO:

31
periventricular nodular heterotopia 7:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Periventricular Nodular Heterotopia 7

UniProtKB/Swiss-Prot : 72 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, also known as pvnh7, is related to cleft palate, isolated and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Periventricular Nodular Heterotopia 7 is NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase). Related phenotypes are hearing impairment and abnormal facial shape

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) (Updated 05-Apr-2021)

Related Diseases for Periventricular Nodular Heterotopia 7

Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7
Periventricular Nodular Heterotopia 8 Periventricular Nodular Heterotopia 9
Flna-Related Periventricular Nodular Heterotopia

Diseases related to Periventricular Nodular Heterotopia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 periventricular nodular heterotopia 10.2
4 hypotonia 10.2

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 7

Human phenotypes related to Periventricular Nodular Heterotopia 7:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 abnormal facial shape 31 occasional (7.5%) HP:0001999
3 optic atrophy 31 occasional (7.5%) HP:0000648
4 flexion contracture 31 occasional (7.5%) HP:0001371
5 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
6 cortical dysplasia 31 occasional (7.5%) HP:0002539
7 seizure 31 occasional (7.5%) HP:0001250
8 intellectual disability 31 HP:0001249
9 global developmental delay 31 HP:0001263
10 strabismus 31 HP:0000486
11 absent speech 31 HP:0001344
12 cleft palate 31 HP:0000175
13 cryptorchidism 31 HP:0000028
14 micrognathia 31 HP:0000347
15 muscular hypotonia of the trunk 31 HP:0008936
16 2-3 toe syndactyly 31 HP:0004691
17 periventricular nodular heterotopia 31 HP:0032388

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
periventricular nodular heterotopia
seizures (in some patients)
delayed psychomotor development
thin corpus callosum (in some patients)
more
Head And Neck Mouth:
cleft palate

Head And Neck Face:
micrognathia
dysmorphic facial features, variable (in some patients)

Skeletal:
contractures (in some patients)

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

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

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal Feet:
toe syndactyly, 2-3

Muscle Soft Tissue:
truncal hypotonia

Clinical features from OMIM®:

617201 (Updated 05-Apr-2021)

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

Publications for Periventricular Nodular Heterotopia 7

Articles related to Periventricular Nodular Heterotopia 7:

# Title Authors PMID Year
1
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 6 57
27694961 2016
2
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
3
[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant]. 61
31922594 2020
4
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. 61
30393983 2018

Variations for Periventricular Nodular Heterotopia 7

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 7:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEDD4L NM_001144967.3(NEDD4L):c.2082G>T (p.Gln694His) SNV Pathogenic 225192 GRCh37: 18:56034996-56034996
GRCh38: 18:58367764-58367764
2 NEDD4L NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln) SNV Pathogenic 225190 GRCh37: 18:56057912-56057912
GRCh38: 18:58390680-58390680
3 NEDD4L NM_001144967.3(NEDD4L):c.2036A>G (p.Tyr679Cys) SNV Pathogenic 225193 GRCh37: 18:56033433-56033433
GRCh38: 18:58366201-58366201
4 NEDD4L NM_001144967.3(NEDD4L):c.2245A>G (p.Met749Val) SNV Likely pathogenic 812181 GRCh37: 18:56037688-56037688
GRCh38: 18:58370456-58370456
5 NEDD4L NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) SNV Likely pathogenic 864862 GRCh37: 18:55992337-55992337
GRCh38: 18:58325105-58325105
6 NEDD4L t(X;18)(p21.1;q21.31) Translocation Likely pathogenic 592171 GRCh37:
GRCh38: 18:58296256-58296259
7 NEDD4L NM_001144967.3(NEDD4L):c.814-6T>A SNV Likely pathogenic 1032677 GRCh37: 18:55997964-55997964
GRCh38: 18:58330732-58330732
8 NEDD4L NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys) SNV Conflicting interpretations of pathogenicity 225191 GRCh37: 18:56057899-56057899
GRCh38: 18:58390667-58390667
9 NEDD4L NM_001144967.3(NEDD4L):c.719T>A (p.Ile240Asn) SNV Uncertain significance 1031161 GRCh37: 18:55996265-55996265
GRCh38: 18:58329033-58329033
10 NEDD4L NM_001144967.3(NEDD4L):c.754C>T (p.Arg252Cys) SNV Uncertain significance 1032676 GRCh37: 18:55996300-55996300
GRCh38: 18:58329068-58329068
11 NEDD4L NM_001144967.3(NEDD4L):c.271T>A (p.Phe91Ile) SNV Uncertain significance 638301 rs1600253758 GRCh37: 18:55919260-55919260
GRCh38: 18:58252028-58252028
12 NEDD4L NM_001144967.3(NEDD4L):c.914A>G (p.Gln305Arg) SNV Uncertain significance 813781 GRCh37: 18:55998070-55998070
GRCh38: 18:58330838-58330838
13 NEDD4L NM_001144967.3(NEDD4L):c.123-23683G>A SNV Uncertain significance 930380 GRCh37: 18:55888976-55888976
GRCh38: 18:58221744-58221744
14 NEDD4L NM_001144967.3(NEDD4L):c.2063C>G (p.Thr688Arg) SNV Uncertain significance 973251 GRCh37: 18:56033460-56033460
GRCh38: 18:58366228-58366228
15 NEDD4L NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val) SNV Uncertain significance 548597 rs200565814 GRCh37: 18:56002732-56002732
GRCh38: 18:58335500-58335500

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

72
# 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

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

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