MCID: PTT002
MIFTS: 34

Potter's Syndrome

Categories: Rare diseases, Nephrological 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 204947004 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 holzgreve syndrome and olivopontocerebellar atrophy. An important gene associated with Potter's Syndrome is CEP104 (Centrosomal Protein 104). The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and lung, and related phenotypes are limbs/digits/tail and reproductive 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.

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

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 limbs/digits/tail MP:0005371 9.33 IGF2 PLA2G10 SALL4
2 reproductive system MP:0005389 9.26 IGF2 PLA2G10 SALL4 SIX5
3 vision/eye MP:0005391 8.92 IGF2 PLA2G10 SALL4 SIX5

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
Menthol Approved Not Applicable 2216-51-5 16666
2 Anesthetics Not Applicable
3 Anesthetics, Local Not Applicable
4 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Not Applicable Normal Saline, 0.9% injectable solution
2 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
Uterus, Kidney, Lung, Skin, Heart, Eye, Brain

Publications for Potter's Syndrome

Articles related to Potter's Syndrome:

(show top 50) (show all 59)
# Title Authors Year
1
Doege-Potter Syndrome, cause of nonislet cell tumor hypoglycemia: the first case report from Nepal. ( 28860867 )
2017
2
Solitary fibrous tumor of the pleura with associated Doege-Potter syndrome. ( 27376978 )
2016
3
A case of solitary fibrous pleura tumor associated with severe hypoglycemia: doege-potter syndrome. ( 25861346 )
2015
4
Potter's syndrome - a fatal constellation of anomalies. ( 24927356 )
2014
5
Doege-Potter syndrome presenting with hypoinsulinemic hypoglycemia in a patient with a malignant extrapleural solitary fibrous tumor: a case report. ( 23302323 )
2013
6
Malignant solitary fibrous tumor with hypoglycemia (Doege-Potter syndrome). ( 23525065 )
2013
7
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review. ( 21416043 )
2010
8
Solitary fibrous tumor of the pleura with associated hypoglycemia: Doege-Potter syndrome: a case report. ( 17409923 )
2006
9
Malignant solitary fibrous tumor of the intestine with refractory hypoglycemia (Doege Potter Syndrome). ( 16931312 )
2006
10
Potter's syndrome: a report of 5 cases. ( 16933729 )
2006
11
Variation in clinical and genitourinary lesions associated with pulmonary hypoplasia in Potter's syndrome--two autopsy reports. ( 17001905 )
2006
12
A case of Potter syndrome due to posterior urethral valve. ( 15479969 )
2004
13
Special imaging casebook. Oligohydramnios sequence with bilateral renal agenesis (Potter's syndrome). ( 11002883 )
2000
14
Early fetal obstructive uropathy produces Potter's syndrome in the lamb. ( 11083420 )
2000
15
Mermaid and Potter's syndrome occurring simultaneously. ( 10672944 )
1999
16
Recurrent Potter's syndrome in a consanguineous marriage. ( 15512016 )
1998
17
Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome). ( 9025849 )
1996
18
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. ( 7544896 )
1995
19
Potter's syndrome: a temporal bone histopathological study. ( 8371331 )
1993
20
Brain defects in infants with Potter syndrome (oligohydramnios sequence) ( 8372035 )
1993
21
[Doege-Potter syndrome. Fibrous mesothelioma of multicentric localization, causing hypoglycemia]. ( 1635777 )
1992
22
Imaging case of the month. Potter's syndrome. ( 2006944 )
1991
23
Antenatal ultrasonic diagnosis of Potter's syndrome. ( 2193877 )
1990
24
Ultrasonography of discoid adrenals in Potter's syndrome: report of three cases. ( 2659015 )
1989
25
Sirenomelia without Potter syndrome: MR characteristics. ( 2745791 )
1989
26
Oligohydramnios sequence (Potter's syndrome): case clustering in northeastern Tennessee. ( 3576270 )
1987
27
Retinal neovascularization in Potter's syndrome secondary to renal agenesis. ( 2431370 )
1986
28
Potter's syndrome associated with renal agenesis or dysplasia. Morphological and biochemical study of the lung. ( 3838659 )
1985
29
Ocular vasodilation and angiogenesis in Potter's syndrome. ( 6198915 )
1984
30
Abdominal dynamic study in oligohydramnios with Potter's syndrome. ( 6370698 )
1984
31
FHR patterns in Potter's Syndrome. ( 6875791 )
1983
32
Prenatal diagnosis of Potter's syndrome by ultrasound. ( 6673497 )
1983
33
Oligohydramnios and extrarenal abnormalities in Potter syndrome. ( 6834196 )
1983
34
Potter's syndrome: bilateral renal agenesis (a report of two cases emphasizing associated malformations). ( 6673215 )
1983
35
Elevated maternal serum alpha-fetoprotein associated with Potter's syndrome. ( 6189401 )
1983
36
Radiographic chest contour and pulmonary air leaks in oligohydramnios-related pulmonary hypoplasia (Potter's syndrome). ( 7076436 )
1982
37
Potter's syndrome. ( 7065402 )
1982
38
Anomalies of the auditory organ in Potter's syndrome. Histopathological findings in the temporal bone. ( 7103824 )
1982
39
Sirenomelia, Potter's syndrome and their relationship to monozygotic twinning: a case report and discussion. ( 7108866 )
1982
40
Brain abnormalities in infants with Potter syndrome (oligohydramnios tetrad). ( 7198213 )
1981
41
Ear anomalies in an infant with Potter's syndrome. ( 7304721 )
1981
42
Potter's syndrome and chromosomal anomalies. ( 7287008 )
1981
43
Congenital cystic adenomatoid malformation in bilateral renal agenesis. Its mitigation of Potter's syndrome. ( 6893124 )
1980
44
Potter's syndrome with ocular anomalies. ( 7391909 )
1980
45
Potter's syndrome. animal model: amniotic fluid deficiency and fetal lung growth in the rat. ( 629330 )
1978
46
Bilateral renal asplasia without Potter's syndrome. ( 626065 )
1978
47
Bilateral renal agenesis (Potter's syndrome) in two consecutive infants. ( 264077 )
1978
48
A short case report of sirenomelia associated with the potter's syndrome. ( 751943 )
1978
49
Diagnosis oligohydramnios-related pulmonary hypoplasia (Potter syndrome): value of portable voiding cystourethrography in newborns with respiratory distress. ( 928707 )
1977
50
Value of chest radiography in the diagnosis of Potter's syndrome at birth. ( 1147138 )
1975

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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.13 IGF2 SALL4 SIX5
2 in utero embryonic development GO:0001701 8.62 IGF2 SALL4

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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