SHMS
MCID: PCS002
MIFTS: 18

Pacs1-Related Syndrome (SHMS)

Categories: Gastrointestinal diseases, Neuronal diseases, 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 hemiplegic migraine and pacs1 syndrome. An important gene associated with Pacs1-Related Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). Affiliated tissues include testes, b cells and t cells.

Related Diseases for Pacs1-Related Syndrome

Diseases in the Pacs1 Syndrome family:

Pacs1-Related Syndrome

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 hemiplegic migraine 11.5
2 pacs1 syndrome 11.3
3 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 11.2
4 sporadic hemiplegic migraine 11.2
5 lipomyelomeningocele 10.4
6 constipation 10.4
7 cleft lip 10.4
8 leiomyosarcoma 10.3
9 leukemia, chronic lymphocytic 10.1
10 spastic paraplegia, ataxia, and mental retardation 10.1
11 lymphoma 10.1
12 lymphocytic leukemia 10.1
13 diarrhea 10.1
14 leukemia, b-cell, chronic 10.1
15 gastroesophageal reflux 10.1
16 hypertelorism 10.1
17 cryptorchidism, unilateral or bilateral 10.1
18 schuurs-hoeijmakers syndrome 10.1
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 ptosis 10.1
21 hypotonia 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:

41
Testes, B Cells, T Cells, Brain, Prostate, Kidney, Thyroid

Publications for Pacs1-Related Syndrome

Articles related to Pacs1-Related Syndrome:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 38 6
26842493 2016
2
Edible Mushrooms Reduce Atherosclerosis in Ldlr-/- Mice Fed a High-Fat Diet. 38
31162580 2019
3
Functional materials with self-healing properties: a review. 38
31406972 2019
4
Risk of secondary haematological malignancies in patients with follicular lymphoma: an analysis of 1028 patients treated in the rituximab era. 38
31267514 2019
5
Capturing the differences between humoral immunity in the normal and tumor environments from repertoire-seq of B-cell receptors using supervised machine learning. 38
31138102 2019
6
Predicting future contents of soil heavy metals and related health risks by combining the models of source apportionment, soil metal accumulation and industrial economic theory. 38
30611039 2019
7
Schuurs-Hoeijmakers syndrome in a patient from India. 38
30690871 2019
8
[Establishment of the norms of Sub-Health Measurement Scale Version 1.0 for Chinese urban residents]. 38
31068303 2019
9
Strategies for brain-targeting liposomal delivery of small hydrophobic molecules in the treatment of neurodegenerative diseases. 38
30414950 2019
10
Managers' Practices of Tobacco and Marijuana Smoking Policies in Hispanic-Occupied Multiunit Housing. 38
31289789 2019
11
Piggery wastewater treatment by Acinetobacter sp. TX5 immobilized with spent mushroom substrate in a fixed-bed reactor. 38
30743858 2018
12
Semiconductor Hyperbolic Metamaterials at the Quantum Limit. 38
30420700 2018
13
Identification of a novel broadly HIV-1-neutralizing antibody from a CRF01_AE-infected Chinese donor. 38
30382080 2018
14
High-affinity IgM+ memory B cells are defective in differentiation into IgM antibody-secreting cells by re-stimulation with a T cell-dependent antigen. 38
30266961 2018
15
Structural Comparison of Human Anti-HIV-1 gp120 V3 Monoclonal Antibodies of the Same Gene Usage Induced by Vaccination and Chronic Infection. 38
29997214 2018
16
Risk of Hematologic Malignancies After Radioiodine Treatment of Well-Differentiated Thyroid Cancer. 38
29252123 2018
17
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. 38
30013564 2018
18
Generation, Diversity Determination, and Application to Antibody Selection of a Human Naïve Fab Library. 38
28927259 2017
19
[Sub-health status of middle school teachers and its correlation analysis with occupational stress]. 38
29081126 2017
20
Haematological malignancies following temozolomide treatment for paediatric high-grade glioma. 38
28586748 2017
21
Sequence intrinsic somatic mutation mechanisms contribute to affinity maturation of VRC01-class HIV-1 broadly neutralizing antibodies. 38
28747530 2017
22
Development and Application of a Structural Health Monitoring System Based on Wireless Smart Aggregates. 38
28714927 2017
23
Do socio-cultural factors influence college students' self-rated health status and health-promoting lifestyles? A cross-sectional multicenter study in Dalian, China. 38
28525995 2017
24
The Role of Healthy Lifestyle in the Implementation of Regressing Suboptimal Health Status among College Students in China: A Nested Case-Control Study. 38
28264509 2017
25
Chronic signs of memory B cell activation in patients with Behçet's disease are partially restored by anti-tumour necrosis factor treatment. 38
27744360 2017
26
Different Somatic Hypermutation Levels among Antibody Subclasses Disclosed by a New Next-Generation Sequencing-Based Antibody Repertoire Analysis. 38
28515723 2017
27
Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation. 38
28539926 2017
28
Chronic Lymphocytic Leukemia Patient Clustering Based on Somatic Hypermutation (SHM) Analysis. 38
28971394 2017
29
Directional and monochromatic thermal emitter from epsilon-near-zero conditions in semiconductor hyperbolic metamaterials. 38
27703223 2016
30
Cognition, Depressive Symptoms and Vascular Factors among Southwest Tribal Elders. 38
27103775 2016
31
An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors. 38
26647217 2016
32
[Associations between health-promoting lifestyle and suboptimal health status in Guangdong: a cross sectional study]. 38
27113183 2016
33
Work-Recreation Balance, Health-Promoting Lifestyles and Suboptimal Health Status in Southern China: A Cross-Sectional Study. 38
27007383 2016
34
[Effect of health-promoting lifestyle on outcomes of suboptimal health status]. 38
28219861 2016
35
Facile large scale preparation and electromagnetic properties of silica-nickel-carbon composite shelly hollow microspheres. 38
26726765 2016
36
Antigen Receptor-Intrinsic Non-Self: The Key to Understanding Regulatory Lymphocyte-Mediated Idiotypic Control of Adaptive Immune Responses. 38
27480901 2016
37
Maturational characteristics of HIV-specific antibodies in viremic individuals. 38
27152362 2016
38
BRILIA: Integrated Tool for High-Throughput Annotation and Lineage Tree Assembly of B-Cell Repertoires. 38
28144239 2016
39
An asymmetric antibody repertoire is shaped between plasmablasts and plasma cells after secondary immunization with (4-hydroxy-3-nitrophenyl)acetyl chicken γ-globulin. 38
26152273 2015
40
Analysis of Cannabinoids and Their Metabolites in Human Urine. 38
26411292 2015
41
Related Mechanisms of Antibody Somatic Hypermutation and Class Switch Recombination. 38
26104555 2015
42
Effects of TCMC on Transformation of Good Health Status to Suboptimal Health Status: A Nested Case-Control Study. 38
26346320 2015
43
Associations between breakfast eating habits and health-promoting lifestyle, suboptimal health status in Southern China: a population based, cross sectional study. 38
25496597 2014
44
Intraclonal diversity in follicular lymphoma analyzed by quantitative ultradeep sequencing of noncoding regions. 38
25311808 2014
45
Expansion and somatic hypermutation of B-cell clones in rejected human kidney grafts. 38
24825521 2014
46
Analysis of somatic hypermutations in the IgM switch region in human B cells. 38
24836470 2014
47
Association of lifestyle factors and suboptimal health status: a cross-sectional study of Chinese students. 38
24951109 2014
48
Secondary hormonal manipulation in castration resistant prostate cancer. 38
24775722 2014
49
Full-scale measurements and system identification on Sutong cable-stayed bridge during Typhoon Fung-Wong. 38
24995367 2014
50
Large-scale analysis of somatic hypermutations in antibodies reveals which structural regions, positions and amino acids are modified to improve affinity. 38
24279419 2014

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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