MCID: PLM045
MIFTS: 15

Palmer Pagon Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Palmer Pagon Syndrome

MalaCards integrated aliases for Palmer Pagon Syndrome:

Name: Palmer Pagon Syndrome 52 71
Familial Hydrocephalus with a Low-Insertion Umbilicus 52
Hydrocephaly-Low Insertion Umbilicus Syndrome 58
Hydrocephaly - Low Insertion Umbilicus 52
Palmer-Pagon Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2931734
Orphanet 58 ORPHA2184
UMLS 71 C2931734

Summaries for Palmer Pagon Syndrome

MalaCards based summary : Palmer Pagon Syndrome, also known as familial hydrocephalus with a low-insertion umbilicus, is related to tetralogy of fallot and vesicoureteral reflux 1. Related phenotypes are epicanthus and abnormality of the thorax

Related Diseases for Palmer Pagon Syndrome

Diseases related to Palmer Pagon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 10.2
2 vesicoureteral reflux 1 10.2
3 cryptorchidism, unilateral or bilateral 10.2
4 inguinal hernia 10.2
5 hydrocephalus 10.2

Graphical network of the top 20 diseases related to Palmer Pagon Syndrome:



Diseases related to Palmer Pagon Syndrome

Symptoms & Phenotypes for Palmer Pagon Syndrome

Human phenotypes related to Palmer Pagon Syndrome:

58 31 (showing 10, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
2 abnormality of the thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0000765
3 hernia of the abdominal wall 58 31 hallmark (90%) Very frequent (99-80%) HP:0004299
4 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
5 communicating hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001334
6 abnormality of the urinary system 58 31 hallmark (90%) Very frequent (99-80%) HP:0000079
7 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
8 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
9 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
10 anomalous pulmonary venous return 58 31 frequent (33%) Frequent (79-30%) HP:0010772

Drugs & Therapeutics for Palmer Pagon Syndrome

Search Clinical Trials , NIH Clinical Center for Palmer Pagon Syndrome

Genetic Tests for Palmer Pagon Syndrome

Anatomical Context for Palmer Pagon Syndrome

Publications for Palmer Pagon Syndrome

Articles related to Palmer Pagon Syndrome:

(showing 1, show less)
# Title Authors PMID Year
1
Familial hydrocephalus with a low-insertion umbilicus. 61
8305966 1993

Variations for Palmer Pagon Syndrome

Expression for Palmer Pagon Syndrome

Search GEO for disease gene expression data for Palmer Pagon Syndrome.

Pathways for Palmer Pagon Syndrome

GO Terms for Palmer Pagon Syndrome

Sources for Palmer Pagon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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