POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 263210
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:0000113) Polycystic kidney dysplasia 75 / 7739
2
 (HPO:0000248) Brachycephaly 222 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000506) Telecanthus 156 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
7
 (HPO:0002265) Large fleshy ears 5 / 7739
8
 (HPO:0009829) Phocomelia 20 / 7739
9
 (HPO:0009827) Amelia 12 / 7739
10
 (HPO:0002983) Micromelia 130 / 7739
11
 (HPO:0003027) Mesomelia 58 / 7739
12
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
13
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
14
 (OMIM) Microbrachycephaly 2 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
16
 (OMIM) Polycystic kidneys, Potter type I 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gillessen-Kaesbach et al. (1993) reported the cases of 3 pairs of sibs from unrelated families who presented with polycystic kidneys of the Potter type I thought to be specific for autosomal recessive polycystic kidney disease (263200) and with ...
Molecular genetics OMIM - Exclusion Studies

Hallermann et al. (2000) performed linkage analysis using markers from the 6p21.1-p12 region (to which ARPKD had been mapped) in the sibs they reported with ARPKD and associated features. The sibs had different ...