MCID: PCS002
MIFTS: 8

Pacs1-Related Syndrome

Categories: Rare diseases

Aliases & Classifications for Pacs1-Related Syndrome

MalaCards integrated aliases for Pacs1-Related Syndrome:

Name: Pacs1-Related Syndrome 53
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome 53
Autosomal Dominant Intellectual Disability-17 53
Schuurs-Hoeijmakers Syndrome 53
Shms 53

Classifications:



Summaries for Pacs1-Related Syndrome

NIH Rare Diseases : 53 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 schuurs-hoeijmakers syndrome. An important gene associated with Pacs1-Related Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). Affiliated tissues include testes.

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 schuurs-hoeijmakers syndrome 12.7

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:

41
Testes

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 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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