PORENCEPHALY 1

General Information (adopted from Orphanet):

Synonyms, Signs: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1
POREN1
ADT1P
T1P
Number of Symptoms 17
OrphanetNr:
OMIM Id: 175780
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000577) Exotropia 43 / 7739
2
(HPO:0001123) Visual field defect 30 / 7739
3
(HPO:0001257) Spasticity 251 / 7739
4
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0003487) Babinski sign 179 / 7739
8
(HPO:0002273) Tetraparesis 15 / 7739
9
(HPO:0002451) Limb dystonia 16 / 7739
10
(HPO:0002301) Hemiplegia 42 / 7739
11
(HPO:0002140) Ischemic stroke 70 / 7739
12
(OMIM) Neuropsychologic cognitive abnormalities 1 / 7739
13
(HPO:0002352) Leukoencephalopathy 32 / 7739
14
(OMIM) Microbleeds 1 / 7739
15
(MedDRA:10051267) Facial paresis 1 / 7739
16
(HPO:0000238) Hydrocephalus 278 / 7739
17
(OMIM) Fluid-filled cavity within the cerebral hemispheres, can be unilateral or bilateral and may or may not communicate with cerebrospinal fluid spaces (CSF spaces) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or ...
Clinical Description OMIM Berg et al. (1983) provided the first description of familial porencephaly. In 1 family, a grandmother was hemiparetic; of her 9 children, 1 had seizures, 1 had hemiparesis and 1 had both, and all 3 children of her ...
Molecular genetics OMIM Gould et al. (2005) assessed families previously described by Smit et al. (1984) and Aguglia et al. (2004) for mutations in the COL4A1 gene. The first family had a gly-to-arg substitution at codon 1236 (120130.0001); the second family ...