Potter's Syndrome

Categories: Nephrological diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Potter's Syndrome

MalaCards integrated aliases for Potter's Syndrome:

Name: Potter's Syndrome 12 15
Potter Syndrome 12 20 36 32
Oligohydramnios Sequence 20 70
Potter Sequence 12 20
Congenital Absence of Kidneys Syndrome 70


External Ids:

Disease Ontology 12 DOID:12594
KEGG 36 H01728
NCIt 50 C40435
SNOMED-CT 67 41962002
ICD10 32 Q60.6
UMLS 70 C0178426 C1609433

Summaries for Potter's Syndrome

GARD : 20 Potter sequence refers to a group of features that can result when there is too little amniotic fluid ( oligohydramnios ) surrounding a baby while in the uterus. This can cause distinct facial features (Potter facies), which may include a flattened nose, recessed chin, skin folds covering the corners of the eyes ( epicanthal folds ), and low-set abnormal ears. Having low amniotic fluid can also result in underdevelopment of the lungs ( pulmonary hypoplasia ). Other associated features may include eye malformations and heart defects. There are various causes of Potter sequence including failure of the kidneys to develop ( bilateral renal agenesis ), polycystic kidney diseases, prune belly syndrome, rupture of membranes surrounding the baby, and other kidney abnormalities. The underlying cause of the sequence is often undetermined, but it may be genetic in some cases. The inheritance pattern depends on the specific genetic cause. Diagnosis is based on ultrasound findings or the presence of characteristic symptoms such as kidney malfunction and difficulty breathing. Treatment depends on the underlying cause of the sequence.

MalaCards based summary : Potter's Syndrome, also known as potter syndrome, is related to renal tubular dysgenesis and congenital anomalies of kidney and urinary tract 2. An important gene associated with Potter's Syndrome is IGF2 (Insulin Like Growth Factor 2), and among its related pathways/superpathways are p70S6K Signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, uterus and eye, and related phenotypes are cardiovascular system and immune system

Disease Ontology : 12 A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.

KEGG : 36 Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during middle gestational weeks. Renal failure is the main defect in Potter syndrome. Other characteristic features include premature birth, breech presentation, atypical facial appearance, and limb malformations. Severe respiratory insufficiency leads to a fatal outcome in most infants. Potter syndrome has been divided into 4 distinct subgroups. Potter syndrome type I is referred to as autosomal recessive polycystic kidney disease (ARPKD), type II as renal dysplasia, type III as autosomal dominant polycystic kidney disease (ADPKD), and type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. Particularly types II-IV can be part of many syndromes.

Wikipedia : 73 Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in... more...

Related Diseases for Potter's Syndrome

Diseases related to Potter's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 263)
# Related Disease Score Top Affiliating Genes
1 renal tubular dysgenesis 32.1 REN AGT ACE
2 congenital anomalies of kidney and urinary tract 2 31.7 REN PAX2
3 islet cell tumor 30.6 INS IGF2 IGF1
4 hypoglycemia 30.6 INS IGFBP3 IGF2 IGF1
5 fasting hypoglycemia 30.5 IGF2 IGF1
6 renal hypodysplasia/aplasia 1 30.4 REN PAX2 IGF2 AGT ACE
7 oligohydramnios 30.3 REN PKHD1 PAX2 AGT ACE
8 multicystic dysplastic kidney 30.1 REN PAX2
9 anuria 30.0 REN AGT ACE
10 obstructive nephropathy 29.9 REN AGT ACE
11 urinary tract obstruction 29.8 REN PAX2 ACE
12 cakut 29.7 REN PAX2 ACE
13 retinal vascular disease 29.7 REN INS IGF1 ACE
14 renal dysplasia 29.6 REN PAX2 AGT ACE
15 vesicoureteral reflux 1 29.5 REN PAX2 AGT ACE
16 insulin-like growth factor i 29.3 INS IGFBP3 IGF2 IGF1
17 polycystic kidney disease 29.2 REN PKHD1 INS IGF1 AGT ACE
18 end stage renal disease 29.2 REN PAX2 INS AGT ACE
19 pre-eclampsia 28.6 REN INS IGFBP3 IGF2 IGF1 AGT
20 holzgreve syndrome 11.5
21 olivopontocerebellar atrophy 11.2
22 aphalangy with hemivertebrae 11.1
23 polycystic kidney disease 4 with or without polycystic liver disease 11.1
24 bilateral renal agenesis dominant type 11.1
25 renal agenesis, bilateral 10.5
26 chronic intestinal failure 10.3 REN IGF1
27 sirenomelia 10.3
28 malignant secondary hypertension 10.3 REN AGT
29 hypoglycemic coma 10.3 INS IGF2
30 retinal microaneurysm 10.3 REN INS
31 hypothalamic obesity 10.2 INS IGF1
32 benign essential hypertension 10.2 REN INS
33 acidophil adenoma 10.2 INS IGF1
34 familial hypertension 10.2 REN AGT
35 pituitary infarct 10.2 INS IGF1
36 posterior urethral valves 10.2 AGT ACE
37 renal artery obstruction 10.2 REN ACE
38 hypoaldosteronism 10.2 REN ACE
39 orthostatic proteinuria 10.2 REN ACE
40 hypertension, diastolic 10.2 REN ACE
41 cholesterol embolism 10.2 REN ACE
42 sheehan syndrome 10.2 INS IGF1
43 hypertensive encephalopathy 10.2 REN ACE
44 kidney papillary necrosis 10.2 REN ACE
45 diabetic encephalopathy 10.2 INS IGF1
46 perinephritis 10.2 REN ACE
47 pulmonary valve insufficiency 10.2 REN ACE
48 hypertensive retinopathy 10.2 REN ACE
49 constrictive pericarditis 10.2 REN ACE
50 silent myocardial infarction 10.2 INS ACE

Graphical network of the top 20 diseases related to Potter's Syndrome:

Diseases related to Potter's Syndrome

Symptoms & Phenotypes for Potter's Syndrome

MGI Mouse Phenotypes related to Potter's Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ACE AGT IGF1 IGF2 IGFBP3 INS
2 immune system MP:0005387 9.97 ACE AGT CD34 IGF1 IGF2 INS
3 nervous system MP:0003631 9.85 ACE AGT IGF1 IGF2 IGFBP3 INS
4 liver/biliary system MP:0005370 9.8 ACE AGT IGF2 IGFBP3 INS NAB2
5 renal/urinary system MP:0005367 9.56 ACE AGT IGF1 IGF2 INS PAX2
6 reproductive system MP:0005389 9.28 ACE AGT IGF1 IGF2 INS NAB2

Drugs & Therapeutics for Potter's Syndrome

Search Clinical Trials , NIH Clinical Center for Potter's Syndrome

Genetic Tests for Potter's Syndrome

Anatomical Context for Potter's Syndrome

MalaCards organs/tissues related to Potter's Syndrome:

Kidney, Uterus, Eye, Brain, Liver, Bone, Pancreas

Publications for Potter's Syndrome

Articles related to Potter's Syndrome:

(show top 50) (show all 272)
# Title Authors PMID Year
Takotsubo cardiomyopathy following temporal lobe encephalitis-a case of 'Harry Potter' syndrome. 61
33462578 2021
An urological cause of hypoglycaemia: A case report of the Doege-Potter syndrome. 61
33348973 2020
Doege-Potter syndrome due to a hepatic solitary fibrous tumour. 61
33309282 2020
A giant pelvic solitary fibrous tumor with Doege-Potter syndrome successfully treated with transcatheter arterial embolization followed by surgical resection: a case report. 61
33237401 2020
Solitary Fibrous Tumors Of The Pleura - 20-Year Experience. 61
33280305 2020
Doege-Potter syndrome presenting as 'end-stage renal disease-associated hypoglycaemia': a primary presentation of retroperitoneal sarcoma. 61
32843457 2020
Giant Pleural Tumor And Severe Hypoglycemia: Doege-Potter Syndrome In A Previously Healthy Female. 61
33068515 2020
Doege-Potter Syndrome and Pierre-Marie-Bamberger Syndrome in a Patient With Pleural Solitary Fibrous Tumor: A Rare Case With Literature Review. 61
32494533 2020
Acute Promyelocytic Leukemia during Pregnancy: A Systematic Review of the Literature. 61
32295152 2020
Discordance for Potter's Syndrome in a Dichorionic Diamniotic Twin Pregnancy-An Unusual Case Report. 61
32143317 2020
Metastatic solitary fibrous tumor of the pancreas in a patient with Doege-Potter syndrome. 61
32140495 2020
Malignant solitary fibrous tumor of the pancreas with systemic metastasis: A case report and review of the literature. 61
32047784 2020
Doege-Potter Syndrome and Hypoglycemia associated with Solitary Fibrous Tumor of the Pleura: Two Case Reports. 61
33110350 2020
Solitary fibrous tumor of the pleura as a rare cause of severe hypoglycemia: Doege-Potter syndrome. 61
32349492 2020
Clinical Presentation, Natural History, and Therapeutic Approach in Patients with Solitary Fibrous Tumor: A Retrospective Analysis. 61
32300277 2020
[Doege-Potter syndrome is a solitary fibrotic tumour often leading to hypoglycaemia]. 61
31538582 2019
Doege-Potter syndrome by malignant solitary fibrous tumor of the liver: A case report and review of literature. 61
31523385 2019
Doege-Potter syndrome: What hypoglycemia hid. 61
30290971 2019
A solitary fibrous tumor in the pelvic cavity of a patient with Doege-Potter syndrome: a case report. 61
30976927 2019
Successful Multimodal Treatment of an IGF2-Producing Solitary Fibrous Tumor With Acromegaloid Changes and Hypoglycemia. 61
30788455 2019
[Solitary fibrous tumor of the retroperitoneum with urinary symptoms revealing a Doege-Potter's syndrome]. 61
30819633 2019
Solitary fibrous tumour along with non-small-cell lung cancer and Doege-Potter syndrome. 61
31043978 2019
Solitary Fibrous Tumor of the Urinary Bladder Associated with Hypoglycemia: An Unusual Case of Doege-Potter Syndrome. 61
31039567 2019
Solitary fibrous tumor of the pleura with Doege-Potter syndrome: Second recurrence in a 93-year-old female. 61
30719313 2019
A broad ligament solitary fibrous tumor with Doege-Potter syndrome. 61
30278559 2018
[Doege-Potter syndrome: Presentation of a case]. 61
29628216 2018
Recurrent Severe Hypoinsulinemic Hypoglycemia Responsive to Temozolomide and Bevacizumab in a Patient With Doege-Potter Syndrome. 61
30219161 2018
Perinatal outcomes after previable preterm premature rupture of membranes before 24 weeks of gestation. 61
28822226 2018
Doege-Potter syndrome: When seizures and hypoglycemia collide. 61
30210734 2018
Lung Image: Doege-Potter Syndrome. 61
29218399 2018
Metastatic Solitary Fibrous Tumor With Doege-Potter Syndrome: Hypoglycemia Treated by 90Y Radioembolization. 61
29293132 2018
[Doege-Potter syndrome with giant malignant solitary fibrous tumour of the pleura]. 61
29353500 2018
[Solitary fibrous tumor and Doege-Potter syndrome]. 61
29360078 2018
A Rare Diagnosis After the Fall of a 96-Year-Old Woman: Doege-Potter Syndrome. 61
30520387 2018
Doege-potter syndrome: a report of a histologically benign but clinically malignant case. 61
28784156 2017
Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient determination. 61
28453880 2017
Doege-Potter syndrome: A review of the literature including a new case report. 61
28682900 2017
[Paraneoplastic hypoglycemia: The hopes of pathophysiological documentation]. 61
28410845 2017
Doege-Potter syndrome: hypoglycaemic coma in a 90-year old due to a solitary fibrous tumour. 61
27932370 2017
Metastatic extrapleural malignant solitary fibrous tumor presenting with hypoglycemia (Doege-Potter syndrome). 61
28228892 2017
Lessons Learned From an Untreated "Benign" Thoracic Tumor. 61
28109372 2017
Doege-Potter Syndrome, cause of nonislet cell tumor hypoglycemia: the first case report from Nepal. 61
28860867 2017
Large pleural tumor revealed by severe hypoglycemia: Doege-Potter syndrome. 61
28523334 2017
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. 61
27994858 2016
Solitary fibrous tumor of the pleura with associated Doege-Potter syndrome. 61
27376978 2016
A case of Solitary fibrous pleura tumor associated with severe hypoglycemia: the Doege-Potter 's Syndrome. 61
28112700 2016
[Doege-Potter Syndrome]. 61
27723620 2016
[Hypoglycemia induced by a solitary fibrous tumor of the lung or Doege-Potter syndrome: Report of one case]. 61
26998992 2016
Seborrheic keratoses and severe hypoinsulinemic hypoglycemia associated with insulin grow factor 2 secretion by a malignant solitary fibrous tumor. 61
27134683 2016
Dermatoglyphics in kidney diseases: a review. 61
27066327 2016

Variations for Potter's Syndrome

Expression for Potter's Syndrome

Search GEO for disease gene expression data for Potter's Syndrome.

Pathways for Potter's Syndrome

GO Terms for Potter's Syndrome

Cellular components related to Potter's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 REN INS IGFBP3 IGF2 IGF1 COL16A1
2 extracellular region GO:0005576 9.28 REN INS IGFBP3 IGF2 IGF1 COL16A1
3 insulin-like growth factor ternary complex GO:0042567 9.26 IGFBP3 IGF1
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGFBP3 IGF1

Biological processes related to Potter's Syndrome according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.83 INS IGFBP3 IGF2 IGF1
2 kidney development GO:0001822 9.76 REN PKHD1 AGT ACE
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.72 IGF2 IGF1 AGT
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 INS IGF1 AGT
5 positive regulation of epithelial cell proliferation GO:0050679 9.69 PKHD1 PAX2 IGF1
6 positive regulation of cell proliferation GO:0008284 9.63 PKHD1 PAX2 INS IGF2 IGF1 AGT
7 positive regulation of glycolytic process GO:0045821 9.62 INS IGF1
8 positive regulation of cardiac muscle hypertrophy GO:0010613 9.62 IGF1 AGT
9 positive regulation of MAPK cascade GO:0043410 9.62 INS IGFBP3 IGF2 IGF1
10 regulation of vasoconstriction GO:0019229 9.61 AGT ACE
11 positive regulation of blood vessel diameter GO:0097755 9.61 INS AGT
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.6 PAX2 AGT
13 positive regulation of cellular protein metabolic process GO:0032270 9.59 INS AGT
14 amyloid-beta metabolic process GO:0050435 9.58 REN ACE
15 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.58 IGFBP3 IGF1
16 mesonephros development GO:0001823 9.57 REN PAX2
17 angiotensin maturation GO:0002003 9.56 REN ACE
18 positive regulation of mitotic nuclear division GO:0045840 9.54 INS IGF2 IGF1
19 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.49 AGT ACE
20 renin-angiotensin regulation of aldosterone production GO:0002018 9.48 REN AGT
21 regulation of renal output by angiotensin GO:0002019 9.43 AGT ACE
22 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 INS IGF2 AGT
23 regulation of blood volume by renin-angiotensin GO:0002016 9.4 REN AGT
24 positive regulation of glycogen biosynthetic process GO:0045725 9.13 INS IGF2 IGF1
25 regulation of blood pressure GO:0008217 8.92 REN CD34 AGT ACE

Molecular functions related to Potter's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.46 INS IGF2 IGF1 AGT
2 integrin binding GO:0005178 9.43 IGF2 IGF1 COL16A1
3 insulin receptor binding GO:0005158 9.13 INS IGF2 IGF1
4 insulin-like growth factor receptor binding GO:0005159 8.92 REN INS IGF2 IGF1

Sources for Potter's Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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