VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 219730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000108) Renal corticomedullary cysts 21 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0100259) Postaxial polydactyly 85 / 7739
5
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
6
(HPO:0001622) Premature birth rare [HPO:skoehler] 100 / 7739
7
(HPO:0001561) Polyhydramnios 191 / 7739
8
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Increased acetylcholinesterase (AChE) in amniotic fluid 1 / 7739
11
(OMIM) Increased amniotic fluid 1 / 7739
12
(OMIM) Focal hyperplasia of the choroid plexus 1 / 7739
13
(OMIM) Cysts contain eosinophilic proteinaceous material 1 / 7739
14
(HPO:0000238) Hydrocephalus 278 / 7739
15
(OMIM) Cystic tubular dilatation in the corticomedullary area and medulla 1 / 7739
16
(HPO:0002119) Ventriculomegaly 253 / 7739
17
(OMIM) Echodense kidneys on ultrasound 1 / 7739
18
(OMIM) Increased alpha-fetoprotein in amniotic fluid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reuss et al. (1989) described a family in which in 2 consanguineous relationships a Cape Verdean man fathered 2 normal children and 6 infants or fetuses with hydrocephaly and cystic disease of the corticomedullary areas of the kidneys. ...