Disease #00783 (PVNH4 (heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4)), OMIM:300537)

Official abbreviation PVNH4
Name heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4)
OMIM ID 300537
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00028747 - PubMed: Sheen 2005 - F - - - - - - - PVNH4 - FLNA FLNA 1 1 Yu Sun
00028748 - PubMed: Sheen 2005 - F - - - - - - - PVNH4 - FLNA FLNA 1 1 Yu Sun
00028749 - PubMed: Sheen 2005 son of III-6 F - - - - - - - PVNH4 ### FLNA FLNA 1 1 Yu Sun
00028751 - PubMed: Gomez-Garre 2006 mother of III-2 F - - - - - - - PVNH4 skin hyperelasticity, joint hypermobility, elbow and scapulohumeral dislocation, subarachnoid haemorrhage, hiatus hernia, mitral prolapse FLNA FLNA 1 1 Yu Sun
00028752 - PubMed: Gomez-Garre 2006 mother of IV-1,daughter of II-2 F - - - - - - - PVNH4 skin hyperelasticity, joint hypermobility, shoulder and knee dislocations, high arched palate, lumbar scoliosis, pectus excavatum FLNA FLNA 1 1 Yu Sun
00028753 - PubMed: Gomez-Garre 2006 daughter of III-2 F - - - - - - - PVNH4 skin hyperelasticity, joint hypermobility, knee dislocations, bilateral inguinal hernias, pyloric stenosis, high arched palate, lumbar hyperlordosis FLNA FLNA 1 1 Yu Sun
00074612 - PubMed: Reinstein 2013 3-generation family, affected male M3, affected mother (M3m) M - Australia - - - - - PVNH4 5y diagnosed with EDS based on soft and slightly hyperextensible skin, diaphragmatic eventration, umbilical hernia, joint hypermobility (Beighton score 8/9); mild pectus carinatum, mild lumbar scoliosis; normal palate/uvula; normal wound healing, normal scarring, normal bruising, no joint dislocations; EMG and elastin staining skin biopsy normal; 15y-MRI paucinodular PH,headaches, episodes of dizziness/poor balance, no associated cortical malformations; early childhood development, subsequent learning, intelligence, mainstream school progress normal; ECG mild mitral valve prolapse with thickened mitral valve leaflets, normal aortic valve, aortic diameter sinuses level of Valsalva 31mm (normal range 28mm); MRA cerebral arteries normal; 16y-admitted for spontaneous pneumothorax FLNA FLNA 1 2 M Walsh
00095099 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, affected mother and daughter, patient F1 F - - - - - added by student Denise van Abswoude - PVNH4 joint hypermobility (HP:0001382), no dislocations (-HP:0001373), joint pain (HP:0002829), aortic aneurysm (HP:0004942), sinus of valsalva aneurysm (HP:0011645), diffuse ectasia (HP:?), normal valves (-HP:0001654), easy bruising (HP:0000978), soft skin (HP:0000977), normal wound healing (-HP:0001058), normal scars (HP:0001075, HP:0001073), no skin hyperextensibility (-HP:0000974), stretch marks (HP:0001065), normal palate (-HP:0000174), single uvula (HP:0000172), no dysmorphic features (-HP:0001999) FLNA FLNA 1 2 Johan den Dunnen
00095100 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, daughter of F1 F - - - - - added by student Jade Baars - PVNH4 no abnormalities aorta (-HP:0001679), aneurysm right subclavian artery (HP:0002617), no abnormalities valves (-HP:0001654), easy bruising (HP:0000978), soft skin (HP:0000977), normal wound healing (-HP:0001058), normal scars (-HP:0000987), no skin hyper extensibility (-HP:0008067), single uvula (-HP:0000172), normal palate (-HP:0008067), no dysmorphic features (-HP:0001999), normal habitus (-HP:0004323), joint hypermobility (7/9) (HP:0001382), no dislocations (-HP:0001373), joint pain (HP:0002829), normal genetic bone survey (HP:0000924), no seizures (-HP:0001250), periventricular nodular heterotopia (HP:0007165) FLNA FLNA 1 1 Johan den Dunnen
00095101 - PubMed: Reinstein 2013, Journal: Reinstein 2013 18y patient from diamniotic twin pregnancy F - - - - - added by student Denise van Abswoude - PVNH4 joint hypermobility (7/9) (HP:0001382), seizures (HP:0001250), pulmonary root dilatation (HP:0004927), normal aorta (-HP:0001679), normal valves (-HP:0001654), thin skin with visible vessels (HP:0000963), no abnormalities craniofacial (-HP:0000271, -HP:0000234) EMD, FLNA FLNA 1 1 Johan den Dunnen
00095102 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, de novo case F - - - - - added by student Quinten Bijman - PVNH4 Generalised joint laxity (HP:0002761), no seizures (-HP:0001250), Dilatation Aorta ascendens (HP:0005111), Thin skin (HP:0000963), Abnormality of the aortic valve (HP:0001646), Patent ductus arteriosus (ligated at 0y3m)(HP:0001643), Cognitive impairment (HP:0100543) FLNA FLNA 1 1 Johan den Dunnen
00095103 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, 1 affected, carrier unaffected mother F - - - - - added by student Quinten Bijman - PVNH4 joint hypermobility (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia, mitralic valve prolapse (HP:0001634), ventriculomegaly (HP:0002119), soft thin skin (HP:0000963), normal elasticity, normally healed scars, agenesis of corpus collosum (HP:0001338), cognitive impairment (HP:0100543) FLNA FLNA 1 1 Johan den Dunnen
00095106 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, mother demonstrated joint hypermobility (HP:0001382) F - - - >23y - added by student Jade Baars - PVNH4 Congenital hip dysplasia (HP:0001385), JH (8/9) (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia (HP:0007165), Aortic root dilatation (HP:0002616), pulmonary artery dilatation (HP:0004927), Mild skin thinning (HP:0000963), ‘criss crossing’ of palmar skin (HP:0011356), Non-dysmorphic (-HP:0001999) , Umbilical hernia (HP:0001537) FLNA FLNA 1 1 Johan den Dunnen
00095107 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, affected son, patient M1 M - - - >10y - added by student Marcella Burhan Ali Mansyur - PVNH4 no abnormality of habitus (HP:0004323), joint hypermobility (HP:0001382), seizures (HP:0001250), periventricular heterotopia (HP:0002282), mitral valve prolapse (HP:0001634), thin skin (HP:0000963), doughy skin (HP:0001027), no skin hyperextensibility (-HP:0000974), no poor wound healing (-HP:0001058), non dysmorphic face (-HP:0001999), high arched palate (HP:0002705), supraumbilical hernia (HP:0001537); brain MRI periventricular heterotropia (PH); ECG prolapse mitral valve; 8y supra-umbilical hernia repaired; 1m small atrial septal defect; normal wound healing FLNA FLNA 1 2 Johan den Dunnen
00095108 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, unaffected non-carrier parents M - - - 00y02m - added by student Marcella Burhan Ali Mansyur - PVNH4 Joint laxity (HP:0002761), No seizure (HP:0001250), Periventricular heterotopia (HP:0002282), Hypoplasia of corpus callosum (HP:0007370), Syringomyelia (HP:0003396), Dilation of ascending aorta (HP:0005111), Dilation of abdominal aorta (HP:0005112), Dysplastic aortic (HP:0005176), Dysplastic mitral valve (HP:0001633), Dysplastic tricuspid valves (HP:0001702), Tortuous supra-aortic vessels , Elastic skin (HP:0000974), Non dysmorphic face (HP:0001999), Normal palate (HP:0000174), Intestinal malrotation (HP:0002566), Abnormality of elastic fibers FLNA FLNA 1 1 Johan den Dunnen
00095113 - PubMed: Reinstein 2013, Journal: Reinstein 2013 mother F7 F - - - - - - - PVNH4 no joint hypermobility, seizures, periventricular nodular heterotopia, ECG normal, thin skin, normal scar formation, non-dysmorphic, FLNA FLNA 1 1 Johan den Dunnen
00133647 - - - M no India - - - - - PVNH4 PVNH myxomatous and prolapsed mitral valve with moderate regurgitation tricuspid aortic valve prolapse with mild regurgitation brachycephaly, telecanthus, epicanthal folds, periorbital fullness and infraorbital creases bilaterally and low-set, posteriorly rotated ears skin laxity Increased mobility across all joints brachydactyly with proximally placed thumbs, flat feet with sandal gap and medially deviated great toes tall vertebral bodies FLNA FLNA 1 1 Elyssa Cannaerts
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.