MCID: FLN007
MIFTS: 20

Flna-Related Periventricular Nodular Heterotopia

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

Aliases & Classifications for Flna-Related Periventricular Nodular Heterotopia

MalaCards integrated aliases for Flna-Related Periventricular Nodular Heterotopia:

Name: Flna-Related Periventricular Nodular Heterotopia 25
X-Linked Periventricular Heterotopia 25 54
Bilateral Periventricular Nodular Heterotopia 54
Heterotopia Periventricular X-Linked Dominant 54
Nodular Heterotopia Bilateral Periventricular 54
Periventricular Nodular Heterotopia 1 54
Periventricular Heterotopia, X-Linked 74
Heterotopia Familial Nodular 54
Pvnh1 54
Nhbp 54
Bpnh 54

Characteristics:

GeneReviews:

25
Penetrance Penetrance is unknown. all individuals with known deleterious loss-of-function flna variants have shown periventricular nodular heterotopia...

Classifications:



External Ids:

UMLS 74 C1848213

Summaries for Flna-Related Periventricular Nodular Heterotopia

NIH Rare Diseases : 54 X-linked periventricular heterotopia or FLNA-related periventricular nodular heterotopia is a genetic disorder in which nerve cells in the brain do not migrate properly during early fetal development (a neuronal migration disorder). It is characterized by the presence of clumps of neurons near the brain's ventricles. Most people with this disorder are female, as it can be lethal in males. Symptoms typically begin with seizures in the teenage years. Intelligence is usually normal, but mild intellectual disability (including difficulty with reading and spelling) may occur. People with this condition also appear to be at increased risk for stroke and other vascular or coagulation (clotting) problems. Some people also have hyperflexible joints and vascular anomalies, which also occur in Ehlers-Danlos syndrome (EDS). X-linked periventricular heterotopia is caused by mutations in the FLNA gene and is inherited in an X-linked dominant manner. Treatment depends on the symptoms in each person and typically includes anti-seizure medications. EDS with periventricular heterotopia, previously considered a variant of EDS, is now considered to be the same as X-linked periventricular heterotopia type 1 (PVNH1) and is not included as an EDS subtype under the 2017 classification of EDS.

MalaCards based summary : Flna-Related Periventricular Nodular Heterotopia, also known as x-linked periventricular heterotopia, is related to periventricular nodular heterotopia 1 and periventricular nodular heterotopia 8. An important gene associated with Flna-Related Periventricular Nodular Heterotopia is FLNA (Filamin A). Affiliated tissues include brain, heart and skin.

GeneReviews: NBK1213

Related Diseases for Flna-Related Periventricular Nodular Heterotopia

Graphical network of the top 20 diseases related to Flna-Related Periventricular Nodular Heterotopia:



Diseases related to Flna-Related Periventricular Nodular Heterotopia

Symptoms & Phenotypes for Flna-Related Periventricular Nodular Heterotopia

Drugs & Therapeutics for Flna-Related Periventricular Nodular Heterotopia

Search Clinical Trials , NIH Clinical Center for Flna-Related Periventricular Nodular Heterotopia

Genetic Tests for Flna-Related Periventricular Nodular Heterotopia

Anatomical Context for Flna-Related Periventricular Nodular Heterotopia

MalaCards organs/tissues related to Flna-Related Periventricular Nodular Heterotopia:

42
Brain, Heart, Skin, Bone

Publications for Flna-Related Periventricular Nodular Heterotopia

Articles related to Flna-Related Periventricular Nodular Heterotopia:

# Title Authors Year
1
Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome. ( 27144976 )
2016
2
A brain and heart connection: X-linked periventricular heterotopia. ( 25557968 )
2015
3
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. ( 23032111 )
2013
4
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. ( 22366253 )
2012

Variations for Flna-Related Periventricular Nodular Heterotopia

Expression for Flna-Related Periventricular Nodular Heterotopia

Search GEO for disease gene expression data for Flna-Related Periventricular Nodular Heterotopia.

Pathways for Flna-Related Periventricular Nodular Heterotopia

GO Terms for Flna-Related Periventricular Nodular Heterotopia

Sources for Flna-Related Periventricular Nodular Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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