Ehlers-Danlos syndrome with periventricular heterotopia

General Information (adopted from Orphanet):

Synonyms, Signs: PERIVENTRICULAR NODULAR HETEROTOPIA 4
PVNH4
EDS with periventricular heterotopia
Number of Symptoms 16
OrphanetNr: 82004
OMIM Id: 300537
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease
Rare disease with thoracic aortic aneurysm and aortic dissection
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
2
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
3
 (HPO:0003834) Shoulder dislocation Occasional [Orphanet] 28 / 7739
4
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
5
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
6
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
7
 (HPO:0002021) Pyloric stenosis Very frequent [Orphanet] 51 / 7739
8
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
9
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
10
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
11
 (HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 55 / 7739
12
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
13
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
14
 (HPO:0001654) Abnormality of the heart valves Frequent [Orphanet] 49 / 7739
15
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM A relationship between Ehlers-Danlos syndrome (EDS; see 130000) and periventricular heterotopia (PVNH) was suggested by 2 single-case reports (Cupo et al., 1981; Thomas et al., 1996). In both instances the affected females showed focal seizures, irregular collagen fibrils, ...
Molecular genetics OMIM In 3 patients with the Ehlers-Danlos variant form of periventricular heterotopia, Sheen et al. (2005) identified heterozygous mutations in the FLNA gene (300017.0017-300017.0019). One pedigree with no detectable exonic FLNA mutation demonstrated positive linkage to the FLNA locus ...