MCID: PTT002
MIFTS: 31

Potter's Syndrome

Categories: Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Potter's Syndrome

MalaCards integrated aliases for Potter's Syndrome:

Name: Potter's Syndrome 12 14
Oligohydramnios Sequence 50 69
Potter Syndrome 12 50
Congenital Absence of Kidneys Syndrome 69
Potter Sequence 50

Classifications:



External Ids:

Disease Ontology 12 DOID:12594
ICD10 33 Q60.6
NCIt 47 C40435
SNOMED-CT 64 204947004 41962002
UMLS 69 C0178426

Summaries for Potter's Syndrome

NIH Rare Diseases : 50 potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia (limited lung development) of a newborn as a direct result of kidney failure, oligohydramnios (lack of amniotic fluid) and compression while in the uterus. features may include "potter facies", which consists of a flattened nose, recessed chin, epicanthal folds, and low-set abnormal ears; features of eagle-barrett (prune belly) syndrome; ophthalmologic (eye) malformations; and heart defects. there are various causes, including bilateral renal agenesis, cystic kidney diseases, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, early rupture of membranes, and other renal abnormalities. the underlying cause of the condition is often undetermined but is genetic in some cases, and the inheritance pattern depends on the specific genetic cause. treatment, when possible, depends on the severity and nature of the abnormalities present. last updated: 5/24/2011

MalaCards based summary : Potter's Syndrome, also known as oligohydramnios sequence, is related to potter syndrome type 1 and potter syndrome type 2. 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, lung and heart, and related phenotypes are limbs/digits/tail and reproductive system

Disease Ontology : 12 An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus.

Wikipedia : 72 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:

44
id 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 8.8 IGF2 SALL4 SIX5

Drugs & Therapeutics for Potter's Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Anesthetics
3 Anesthetics, Local
4 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Renal Agenesis Fetal Therapy Recruiting NCT03101891 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:

39
Uterus, Lung, Heart, Kidney, Eye, Bone, Fetal Lung

Publications for Potter's Syndrome

Articles related to Potter's Syndrome:

(show all 45)
id Title Authors Year
1
Potter's syndrome - a fatal constellation of anomalies. ( 24927356 )
2014
2
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review. ( 21416043 )
2010
3
Variation in clinical and genitourinary lesions associated with pulmonary hypoplasia in Potter's syndrome--two autopsy reports. ( 17001905 )
2006
4
Potter's syndrome: a report of 5 cases. ( 16933729 )
2006
5
Early fetal obstructive uropathy produces Potter's syndrome in the lamb. ( 11083420 )
2000
6
Special imaging casebook. Oligohydramnios sequence with bilateral renal agenesis (Potter's syndrome). ( 11002883 )
2000
7
Mermaid and Potter's syndrome occurring simultaneously. ( 10672944 )
1999
8
Recurrent Potter's syndrome in a consanguineous marriage. ( 15512016 )
1998
9
Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome). ( 9025849 )
1996
10
Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. ( 7544896 )
1995
11
Potter's syndrome: a temporal bone histopathological study. ( 8371331 )
1993
12
Imaging case of the month. Potter's syndrome. ( 2006944 )
1991
13
Antenatal ultrasonic diagnosis of Potter's syndrome. ( 2193877 )
1990
14
Ultrasonography of discoid adrenals in Potter's syndrome: report of three cases. ( 2659015 )
1989
15
Oligohydramnios sequence (Potter's syndrome): case clustering in northeastern Tennessee. ( 3576270 )
1987
16
Retinal neovascularization in Potter's syndrome secondary to renal agenesis. ( 2431370 )
1986
17
Potter's syndrome associated with renal agenesis or dysplasia. Morphological and biochemical study of the lung. ( 3838659 )
1985
18
Abdominal dynamic study in oligohydramnios with Potter's syndrome. ( 6370698 )
1984
19
Ocular vasodilation and angiogenesis in Potter's syndrome. ( 6198915 )
1984
20
Elevated maternal serum alpha-fetoprotein associated with Potter's syndrome. ( 6189401 )
1983
21
Prenatal diagnosis of Potter's syndrome by ultrasound. ( 6673497 )
1983
22
FHR patterns in Potter's Syndrome. ( 6875791 )
1983
23
Potter's syndrome: bilateral renal agenesis (a report of two cases emphasizing associated malformations). ( 6673215 )
1983
24
Sirenomelia, Potter's syndrome and their relationship to monozygotic twinning: a case report and discussion. ( 7108866 )
1982
25
Potter's syndrome. ( 7065402 )
1982
26
Radiographic chest contour and pulmonary air leaks in oligohydramnios-related pulmonary hypoplasia (Potter's syndrome). ( 7076436 )
1982
27
Anomalies of the auditory organ in Potter's syndrome. Histopathological findings in the temporal bone. ( 7103824 )
1982
28
Potter's syndrome and chromosomal anomalies. ( 7287008 )
1981
29
Ear anomalies in an infant with Potter's syndrome. ( 7304721 )
1981
30
Potter's syndrome with ocular anomalies. ( 7391909 )
1980
31
Congenital cystic adenomatoid malformation in bilateral renal agenesis. Its mitigation of Potter's syndrome. ( 6893124 )
1980
32
A short case report of sirenomelia associated with the potter's syndrome. ( 751943 )
1978
33
Potter's syndrome. animal model: amniotic fluid deficiency and fetal lung growth in the rat. ( 629330 )
1978
34
Bilateral renal asplasia without Potter's syndrome. ( 626065 )
1978
35
Bilateral renal agenesis (Potter's syndrome) in two consecutive infants. ( 264077 )
1978
36
Value of chest radiography in the diagnosis of Potter's syndrome at birth. ( 1147138 )
1975
37
Oligohydramnios, cause of the nonrenal features of Potter's syndrome, including pulmonary hypoplasia. ( 4826613 )
1974
38
Obstetric complications when the fetus has Potter's syndrome. II. Fetoplacental function. ( 4735338 )
1973
39
Obstetric complications when the fetus has Potter's syndrome. I. Clinical considerations. ( 4695304 )
1973
40
The pathogenesis of Potter's syndrome of renal agenesis. ( 4665096 )
1972
41
Picture of the month. Potter's syndrome. ( 5820602 )
1969
42
Arthrogryposis Multiplex Congenita with Potter's Syndrome. ( 20311522 )
1969
43
Potter's syndrome with mental retardation (auro-renal syndrome; reno-facial dysplasia). ( 5779632 )
1969
44
POTTER'S SYNDROME: CHROMOSOME ANALYSIS OF THREE CASES WITH POTTER'S SYNDROME OR RELATED SYNDROMES. ( 14218864 )
1965
45
The association of sirenomelia with Potter's syndrome. ( 13688247 )
1960

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:

id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 8.32 SALL4

Sources for Potter's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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