MCID: PCS002
MIFTS: 11

Pacs1-Related Syndrome

Categories: Rare diseases

Aliases & Classifications for Pacs1-Related Syndrome

MalaCards integrated aliases for Pacs1-Related Syndrome:

Name: Pacs1-Related Syndrome 54
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome 54
Autosomal Dominant Intellectual Disability-17 54
Schuurs-Hoeijmakers Syndrome 54
Shms 54

Classifications:



Summaries for Pacs1-Related Syndrome

NIH Rare Diseases : 54 PACS-1 related syndrome is characterized by intellectual disability, developmental delay, and mildly distinctive facial features. People with this syndrome may also have seizures, difficulty eating and gaining weight, and autism. As of 2017, less than 70 people have been diagnosed with this syndrome. However, since the first cases of the syndrome were only published in the medical journals in 2012, the number of children and adults found to have the syndrome may increase.  PACS1-related syndrome is caused by a specific change or mutation in the PACS1 gene. So far, this genetic change has not been found in the parents of a child with PACS1 -related syndrome. This means the change in the PACS1 gene most likely happened during the making of the egg  or the sperm. PACS1-related disorder is suspected when a doctor sees signs of the syndrome such as intellectual disability and the characteristic facial features. Genetic testing of the PACS1 gene is needed to confirm the diagnosis. Treatment for PACS1-related syndrome depends on the signs and symptoms each person has, but may include medications to prevent seizures, and speech, physical, and occupational therapies.

MalaCards based summary : Pacs1-Related Syndrome, also known as intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome, is related to pacs1 syndrome and hemiplegic migraine. An important gene associated with Pacs1-Related Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). Affiliated tissues include testes and b cells.

Related Diseases for Pacs1-Related Syndrome

Diseases related to Pacs1-Related Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pacs1 syndrome 11.5
2 hemiplegic migraine 11.1
3 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 11.1
4 sporadic hemiplegic migraine 11.1
5 schuurs-hoeijmakers syndrome 10.1
6 leukemia, chronic lymphocytic 2 10.1
7 leukemia, chronic lymphocytic 10.1
8 leukemia 10.1
9 lymphocytic leukemia 10.1
10 leukemia, b-cell, chronic 10.1

Graphical network of the top 20 diseases related to Pacs1-Related Syndrome:



Diseases related to Pacs1-Related Syndrome

Symptoms & Phenotypes for Pacs1-Related Syndrome

Drugs & Therapeutics for Pacs1-Related Syndrome

Search Clinical Trials , NIH Clinical Center for Pacs1-Related Syndrome

Genetic Tests for Pacs1-Related Syndrome

Anatomical Context for Pacs1-Related Syndrome

MalaCards organs/tissues related to Pacs1-Related Syndrome:

42
Testes, B Cells

Publications for Pacs1-Related Syndrome

Articles related to Pacs1-Related Syndrome:

# Title Authors Year
1
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. ( 26842493 )
2016

Variations for Pacs1-Related Syndrome

Expression for Pacs1-Related Syndrome

Search GEO for disease gene expression data for Pacs1-Related Syndrome.

Pathways for Pacs1-Related Syndrome

GO Terms for Pacs1-Related Syndrome

Sources for Pacs1-Related Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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