MCID: PTT002
MIFTS: 37

Potter's Syndrome

Categories: Nephrological diseases, Rare 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 53 37
Oligohydramnios Sequence 53 73
Potter Sequence 12 53
Congenital Absence of Kidneys Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:12594
ICD10 33 Q60.6
NCIt 50 C40435
SNOMED-CT 68 41962002
KEGG 37 H01728

Summaries for Potter's Syndrome

NIH Rare Diseases : 53 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 oligohydramnios. An important gene associated with Potter's Syndrome is CEP104 (Centrosomal Protein 104), and among its related pathways/superpathways are p70S6K Signaling and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Pharmaceutical Solutions and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and lung, and related phenotypes are cardiovascular system and growth/size/body region

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.

Wikipedia : 76 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 all 39)
# Related Disease Score Top Affiliating Genes
1 renal tubular dysgenesis 31.6 AGT REN
2 oligohydramnios 30.0 AGT REN
3 renal dysplasia 29.7 AGT BICC1 REN
4 holzgreve syndrome 11.9
5 olivopontocerebellar atrophy 11.3
6 congenital anomalies of kidney and urinary tract 2 11.2
7 renal hypodysplasia/aplasia 1 11.2
8 polycystic kidney disease 4 with or without polycystic liver disease 11.2
9 bilateral renal agenesis dominant type 11.2
10 hypoglycemia 10.5
11 hemangiopericytoma, malignant 10.4
12 penile agenesis 10.1
13 papillorenal syndrome 9.9
14 cleft lip 9.9
15 pax2-related disorder 9.9
16 ring chromosome 4 9.9
17 cleft lip/palate 9.9
18 ocular motor apraxia 9.9
19 sirenomelia 9.9
20 seizure disorder 9.9
21 renal artery disease 9.9 AGT REN
22 anuria 9.9 AGT REN
23 malignant hypertension 9.9 AGT REN
24 hyperaldosteronism, familial, type i 9.9 AGT REN
25 fibromuscular dysplasia 9.8 AGT REN
26 fetal akinesia deformation sequence 9.8
27 pierre robin syndrome 9.8
28 isolated pierre robin sequence 9.8
29 familial hypertension 9.8 AGT REN
30 joubert syndrome 1 9.8 CEP104 INVS
31 gitelman syndrome 9.8 AGT REN
32 obstructive nephropathy 9.8 AGT REN
33 adrenal carcinoma 9.8 IGF2 REN
34 vesicoureteral reflux 1 9.8 AGT REN
35 aortic valve disease 2 9.8 AGT REN
36 arteries, anomalies of 9.7 AGT REN
37 autosomal dominant polycystic kidney disease 9.7 AGT BICC1 REN
38 interstitial nephritis 9.7 AGT INVS REN
39 chronic kidney failure 9.7 AGT INVS REN

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 AGT BICC1 IGF2 INVS REN
2 growth/size/body region MP:0005378 9.55 AGT BICC1 IGF2 INVS REN
3 liver/biliary system MP:0005370 9.26 AGT BICC1 IGF2 INVS
4 renal/urinary system MP:0005367 9.02 AGT BICC1 IGF2 INVS REN

Drugs & Therapeutics for Potter's Syndrome

Drugs for Potter's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1,Not Applicable
2 Anesthetics, Local Not Applicable
3 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia Not yet recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
2 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Not Applicable Normal Saline, 0.9% injectable solution
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

41
Kidney, Uterus, Lung, Skin, Heart, Eye, Liver

Publications for Potter's Syndrome

Articles related to Potter's Syndrome:

(show top 50) (show all 95)
# Title Authors Year
1
Doege-Potter syndrome: When seizures and hypoglycemia collide. ( 30210734 )
2018
2
Recurrent Severe Hypoinsulinemic Hypoglycemia Responsive to Temozolomide and Bevacizumab in a Patient With Doege-Potter Syndrome. ( 30219161 )
2018
3
Doege-Potter syndrome: What hypoglycemia hid. ( 30290971 )
2018
4
Metastatic Solitary Fibrous Tumor With Doege-Potter Syndrome: Hypoglycemia Treated by 90Y Radioembolization. ( 29293132 )
2018
5
Lung Image: Doege-Potter Syndrome. ( 29218399 )
2018
6
A broad ligament solitary fibrous tumor with Doege-Potter syndrome. ( 30278559 )
2018
7
A Rare Diagnosis After the Fall of a 96-Year-Old Woman: Doege-Potter Syndrome. ( 30520387 )
2018
8
Doege-Potter Syndrome, cause of nonislet cell tumor hypoglycemia: the first case report from Nepal. ( 28860867 )
2017
9
Large pleural tumor revealed by severe hypoglycemia: Doege-Potter syndrome. ( 28523334 )
2017
10
Metastatic extrapleural malignant solitary fibrous tumor presenting with hypoglycemia (Doege-Potter syndrome). ( 28228892 )
2017
11
Doege-Potter syndrome: hypoglycaemic coma in a 90-year old due to a solitary fibrous tumour. ( 27932370 )
2017
12
Doege-Potter syndrome: A review of the literature including a new case report. ( 28682900 )
2017
13
Doege-potter syndrome: a report of a histologically benign but clinically malignant case. ( 28784156 )
2017
14
Solitary fibrous tumor of the pleura with associated Doege-Potter syndrome. ( 27376978 )
2016
15
A case of solitary fibrous pleura tumor associated with severe hypoglycemia: doege-potter syndrome. ( 25861346 )
2015
16
A common problem in the elderly with an uncommon cause: hypoglycaemia secondary to the Doege-Potter syndrome. ( 25636632 )
2015
17
Doege-Potter syndrome. ( 26185347 )
2015
18
Doege-Potter Syndrome. ( 26414372 )
2015
19
Potter's syndrome - a fatal constellation of anomalies. ( 24927356 )
2014
20
Solitary fibrous tumors of the pleura with Doege-Potter syndrome: a case report and three-decade review of the literature. ( 25113505 )
2014
21
Doege-Potter syndrome presenting with hypoinsulinemic hypoglycemia in a patient with a malignant extrapleural solitary fibrous tumor: a case report. ( 23302323 )
2013
22
Malignant solitary fibrous tumor with hypoglycemia (Doege-Potter syndrome). ( 23525065 )
2013
23
Doege-Potter syndrome and 'big-IGF2': a rare cause of hypoglycaemia. ( 21406561 )
2011
24
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review. ( 21416043 )
2010
25
Solitary fibrous tumour of the pleura presenting with refractory non-insulin mediated hypoglycaemia (the Doege-Potter syndrome). ( 21265256 )
2010
26
Surgically cured hypoglycemia secondary to pleural solitary fibrous tumour: case report and update review on the Doege-Potter syndrome. ( 19689813 )
2009
27
Potter syndrome with an unusual cardiac anomaly. ( 21687036 )
2009
28
Solitary fibrous tumor of the pleura with associated hypoglycemia: Doege-Potter syndrome: a case report. ( 17409923 )
2006
29
Malignant solitary fibrous tumor of the intestine with refractory hypoglycemia (Doege Potter Syndrome). ( 16931312 )
2006
30
Potter's syndrome: a report of 5 cases. ( 16933729 )
2006
31
Variation in clinical and genitourinary lesions associated with pulmonary hypoplasia in Potter's syndrome--two autopsy reports. ( 17001905 )
2006
32
A case of Potter syndrome due to posterior urethral valve. ( 15479969 )
2004
33
Doege-Potter syndrome: hypoglycemia associated with malignant solitary fibrous tumor. ( 14716039 )
2003
34
Special imaging casebook. Oligohydramnios sequence with bilateral renal agenesis (Potter's syndrome). ( 11002883 )
2000
35
Early fetal obstructive uropathy produces Potter's syndrome in the lamb. ( 11083420 )
2000
36
Solitary fibrous tumor associated with hypoglycemia: an example of the Doege-Potter syndrome. ( 10612786 )
2000
37
Mermaid and Potter's syndrome occurring simultaneously. ( 10672944 )
1999
38
Recurrent Potter's syndrome in a consanguineous marriage. ( 15512016 )
1998
39
Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome). ( 9025849 )
1996
40
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. ( 7544896 )
1995
41
Potter's syndrome: a temporal bone histopathological study. ( 8371331 )
1993
42
Brain defects in infants with Potter syndrome (oligohydramnios sequence) ( 8372035 )
1993
43
Solitary fibrous tumor of the pleura with hypoglycemia: the Doege-Potter syndrome. ( 1474302 )
1992
44
Dental involvement of an infant with Potter syndrome: case report. ( 1525079 )
1992
45
Imaging case of the month. Potter's syndrome. ( 2006944 )
1991
46
Antenatal ultrasonic diagnosis of Potter's syndrome. ( 2193877 )
1990
47
Erythropoietin levels and erythropoiesis at birth in infants with Potter syndrome. ( 2370603 )
1990
48
Ultrasonography of discoid adrenals in Potter's syndrome: report of three cases. ( 2659015 )
1989
49
Sirenomelia without Potter syndrome: MR characteristics. ( 2745791 )
1989
50
Oligohydramnios sequence (Potter's syndrome): case clustering in northeastern Tennessee. ( 3576270 )
1987

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 AGT IGF2 REN
2
Show member pathways
10.86 AGT REN
3 10.44 AGT REN

GO Terms for Potter's Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.4 BICC1 INVS
2 kidney development GO:0001822 9.37 AGT REN
3 positive regulation of catalytic activity GO:0043085 9.32 AGT IGF2
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.26 AGT IGF2
5 regulation of blood pressure GO:0008217 9.16 AGT REN
6 renin-angiotensin regulation of aldosterone production GO:0002018 8.96 AGT REN
7 regulation of blood volume by renin-angiotensin GO:0002016 8.62 AGT REN

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 8.96 AGT IGF2
2 insulin-like growth factor receptor binding GO:0005159 8.62 IGF2 REN

Sources for Potter's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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