MCID: PCS004
MIFTS: 9

Pacs1 Neurodevelopmental Disorder

Categories: Neuronal diseases

Aliases & Classifications for Pacs1 Neurodevelopmental Disorder

MalaCards integrated aliases for Pacs1 Neurodevelopmental Disorder:

Name: Pacs1 Neurodevelopmental Disorder 25
Schuurs-Hoeijmakers Syndrome 25

Characteristics:

GeneReviews:

25
Penetrance To date, penetrance appears to be 100%.

Classifications:



Summaries for Pacs1 Neurodevelopmental Disorder

MalaCards based summary : Pacs1 Neurodevelopmental Disorder, also known as schuurs-hoeijmakers syndrome, is related to schuurs-hoeijmakers syndrome and pacs1 syndrome. An important gene associated with Pacs1 Neurodevelopmental Disorder is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1).

GeneReviews: NBK559434

Related Diseases for Pacs1 Neurodevelopmental Disorder

Diseases related to Pacs1 Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 schuurs-hoeijmakers syndrome 11.9
2 pacs1 syndrome 11.3
3 alacrima, achalasia, and mental retardation syndrome 10.5
4 lipomyelomeningocele 10.2
5 heart septal defect 10.2
6 atrial heart septal defect 10.2
7 cleft lip 10.2
8 hypertelorism 10.1
9 microcephaly 10.1
10 constipation 10.1
11 hypotonia 10.1

Graphical network of the top 20 diseases related to Pacs1 Neurodevelopmental Disorder:



Diseases related to Pacs1 Neurodevelopmental Disorder

Symptoms & Phenotypes for Pacs1 Neurodevelopmental Disorder

Drugs & Therapeutics for Pacs1 Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Pacs1 Neurodevelopmental Disorder

Genetic Tests for Pacs1 Neurodevelopmental Disorder

Anatomical Context for Pacs1 Neurodevelopmental Disorder

Publications for Pacs1 Neurodevelopmental Disorder

Articles related to Pacs1 Neurodevelopmental Disorder:

(show all 17)
# Title Authors PMID Year
1
Schuurs-Hoeijmakers syndrome in a patient from India. 61 25
30690871 2019
2
Schuurs-Hoeijmakers syndrome in two patients from Japan. 25 61
30588754 2019
3
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 61 25
28975623 2018
4
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations. 25
31227601 2019
5
Mutation of PACS1: the milder end of the spectrum. 25
30113927 2018
6
Ocular manifestations of PACS1 mutation. 25
29550517 2018
7
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 25
28111752 2017
8
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
9
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 25
26842493 2016
10
Timing, rates and spectra of human germline mutation. 25
26656846 2016
11
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 25
25522177 2015
12
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 25
23159249 2012
13
Left main stem fistula masquerading as an atrial septal defect in a gentleman with Schuurs-Hoeijmakers syndrome. 61
33554011 2021
14
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. 61
33369122 2020
15
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature. 61
33166031 2020
16
PACS1 Neurodevelopmental Disorder 61
32672908 2020
17
[Schuurs-Hoeijmakers syndrome in a child]. 61
29343003 2018

Variations for Pacs1 Neurodevelopmental Disorder

Expression for Pacs1 Neurodevelopmental Disorder

Search GEO for disease gene expression data for Pacs1 Neurodevelopmental Disorder.

Pathways for Pacs1 Neurodevelopmental Disorder

GO Terms for Pacs1 Neurodevelopmental Disorder

Sources for Pacs1 Neurodevelopmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....