PVNH9
MCID: PRV022
MIFTS: 24

Periventricular Nodular Heterotopia 9 (PVNH9)

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

Aliases & Classifications for Periventricular Nodular Heterotopia 9

MalaCards integrated aliases for Periventricular Nodular Heterotopia 9:

Name: Periventricular Nodular Heterotopia 9 57 72 29 6
Pvnh9 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
de novo mutation (in some patients)

Inheritance:
autosomal dominant


HPO:

31
periventricular nodular heterotopia 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 9

OMIM® : 57 Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018). For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049. (618918) (Updated 05-Apr-2021)

MalaCards based summary : Periventricular Nodular Heterotopia 9, is also known as pvnh9. An important gene associated with Periventricular Nodular Heterotopia 9 is MAP1B (Microtubule Associated Protein 1B). Affiliated tissues include brain, and related phenotypes are intellectual disability and high palate

UniProtKB/Swiss-Prot : 72 Periventricular nodular heterotopia 9: 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. PVNH9 is an autosomal dominant disorder with incomplete penetrance, characterized by impaired intellectual development, cognitive defects, learning disabilities, and behavior abnormalities. Some patients develop seizures.

Related Diseases for Periventricular Nodular Heterotopia 9

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 9

Human phenotypes related to Periventricular Nodular Heterotopia 9:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 high palate 31 very rare (1%) HP:0000218
3 gingival overgrowth 31 very rare (1%) HP:0000212
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 microtia 31 very rare (1%) HP:0008551
6 microcephaly 31 very rare (1%) HP:0000252
7 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
8 epicanthus 31 very rare (1%) HP:0000286
9 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
10 obsessive-compulsive behavior 31 very rare (1%) HP:0000722
11 pes cavus 31 very rare (1%) HP:0001761
12 dyslexia 31 very rare (1%) HP:0010522
13 everted upper lip vermilion 31 very rare (1%) HP:0010803
14 polymicrogyria 31 very rare (1%) HP:0002126
15 synophrys 31 very rare (1%) HP:0000664
16 tapered finger 31 very rare (1%) HP:0001182
17 prominent metopic ridge 31 very rare (1%) HP:0005487
18 broad-based gait 31 very rare (1%) HP:0002136
19 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
20 single transverse palmar crease 31 very rare (1%) HP:0000954
21 mild global developmental delay 31 very rare (1%) HP:0011342
22 posteriorly rotated ears 31 very rare (1%) HP:0000358
23 autistic behavior 31 very rare (1%) HP:0000729
24 hirsutism 31 very rare (1%) HP:0001007
25 focal-onset seizure 31 very rare (1%) HP:0007359
26 prominent fingertip pads 31 very rare (1%) HP:0001212
27 dyscalculia 31 very rare (1%) HP:0002442
28 interictal epileptiform activity 31 very rare (1%) HP:0011182
29 periventricular nodular heterotopia 31 very rare (1%) HP:0032388
30 hypoplastic philtrum 31 very rare (1%) HP:0005326
31 squared superior portion of helix 31 very rare (1%) HP:0030026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder
dyslexia
hyperactivity
impulsivity
dyscalculia
more
Head And Neck Face:
prominent metopic ridge
small philtrum
dysmorphic facial features (noted in patient a)

Skeletal Hands:
fifth finger clinodactyly
tapered fingers
single palmar crease
fetal finger pads

Neurologic Central Nervous System:
seizures (in some patients)
thin corpus callosum
decreased white matter volume
polymicrogyria (in some patients)
global developmental delay, mild
more
Head And Neck Eyes:
synophrys
epicanthal folds
long upslanting palpebral fissures

Head And Neck Ears:
posteriorly rotated ears
conductive hearing loss
small ears

Head And Neck Mouth:
high-arched palate
gingival hypertrophy
everted upper lip

Head And Neck Head:
microcephaly (patient a)

Clinical features from OMIM®:

618918 (Updated 05-Apr-2021)

Drugs & Therapeutics for Periventricular Nodular Heterotopia 9

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 9

Genetic Tests for Periventricular Nodular Heterotopia 9

Genetic tests related to Periventricular Nodular Heterotopia 9:

# Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 9 29 MAP1B

Anatomical Context for Periventricular Nodular Heterotopia 9

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 9:

40
Brain

Publications for Periventricular Nodular Heterotopia 9

Articles related to Periventricular Nodular Heterotopia 9:

# Title Authors PMID Year
1
MAP1B related syndrome: Case presentation and review of literature. 6 57
31317654 2019
2
MAP1B mutations cause intellectual disability and extensive white matter deficit. 57 6
30150678 2018
3
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 6 57
29738522 2018

Variations for Periventricular Nodular Heterotopia 9

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP1B NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter) SNV Pathogenic 548633 rs1554054880 GRCh37: 5:71490776-71490776
GRCh38: 5:72194949-72194949
2 MAP1B NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter) SNV Pathogenic 800721 rs1561315170 GRCh37: 5:71492276-71492276
GRCh38: 5:72196449-72196449
3 MAP1B NM_005909.5(MAP1B):c.2134del (p.Glu712fs) Deletion Pathogenic 800720 rs1561314246 GRCh37: 5:71491315-71491315
GRCh38: 5:72195488-72195488
4 MAP1B NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) SNV Pathogenic 800722 rs1580026238 GRCh37: 5:71494172-71494172
GRCh38: 5:72198345-72198345
5 MAP1B NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) SNV Pathogenic 548632 rs1554054831 GRCh37: 5:71490089-71490089
GRCh38: 5:72194262-72194262
6 MAP1B NM_005909.5(MAP1B):c.2035G>T (p.Glu679Ter) SNV Pathogenic 930211 GRCh37: 5:71491217-71491217
GRCh38: 5:72195390-72195390
7 MAP1B NM_005909.5(MAP1B):c.4022C>T (p.Thr1341Ile) SNV Uncertain significance 931615 GRCh37: 5:71493204-71493204
GRCh38: 5:72197377-72197377
8 MAP1B NM_005909.5(MAP1B):c.1179G>A (p.Met393Ile) SNV Uncertain significance 989240 GRCh37: 5:71490361-71490361
GRCh38: 5:72194534-72194534
9 MAP1B NM_005909.5(MAP1B):c.742C>A (p.Pro248Thr) SNV Uncertain significance 1027647 GRCh37: 5:71489924-71489924
GRCh38: 5:72194097-72194097
10 MAP1B NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) SNV Uncertain significance 548634 rs1554055106 GRCh37: 5:71492498-71492498
GRCh38: 5:72196671-72196671

Expression for Periventricular Nodular Heterotopia 9

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 9.

Pathways for Periventricular Nodular Heterotopia 9

GO Terms for Periventricular Nodular Heterotopia 9

Sources for Periventricular Nodular Heterotopia 9

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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