SHMS
MCID: PCS003
MIFTS: 17

Pacs1 Syndrome (SHMS)

Categories: Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Pacs1 Syndrome

MalaCards integrated aliases for Pacs1 Syndrome:

Name: Pacs1 Syndrome 25
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome 25
Autosomal Dominant Intellectual Disability-17 25
Schuurs-Hoeijmakers Syndrome 25
Pacs1-Related Syndrome 25
Shms 25

Classifications:



Summaries for Pacs1 Syndrome

Genetics Home Reference : 25 PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems. PACS1 In PACS1 syndrome, intellectual disability typically ranges from mild to moderate. Individuals with this condition also have problems with producing speech (expressive language). Speech development ranges from limited language to few words or no speech. PACS1 Individuals with PACS1 syndrome have a distinct facial appearance. Facial features include thick and highly arched eyebrows, long eyelashes, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), droopy eyelids (ptosis), a rounded nasal tip, a wide mouth with corners that point downward, a thin upper lip, a smooth area between the nose and upper lip (philtrum), widely spaced teeth, and ears that are low-set with fewer folds and grooves than normal (described as "simple"). Abnormalities of other body systems can also occur, such as malformations of the heart, brain, eyes, or other organs. Males may have undescended testes (cryptorchidism). PACS1 Children with PACS1 syndrome often have problems learning to eat solid food and prefer soft foods. When given solid foods, affected children often swallow without chewing. These food issues tend to persist throughout life. Some affected individuals experience a backflow of stomach acids into the esophagus (gastroesophageal reflux). PACS1 Additional neurological problems can occur in PACS1 syndrome. Some affected individuals have features of autism spectrum disorder, which is characterized by impaired communication and social interaction. Attention-deficit/hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), self-injury, or frustration leading to tantrums can also occur. Most individuals with PACS1 syndrome have seizures that vary in type and age of onset. Some people with PACS1 syndrome have weak muscle tone (hypotonia). Individuals with this condition are often delayed in walking, with some developing an unsteady walking style (gait). Rarely, affected individuals have frequent falls and gradually lose their ability to walk in late childhood, requiring wheelchair assistance. PACS1 PACS1 PACS1

MalaCards based summary : Pacs1 Syndrome, also known as intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome, is related to schuurs-hoeijmakers syndrome and familiar or sporadic hemiplegic migraine. Affiliated tissues include eye, brain and heart.

Wikipedia : 74 Phosphofurin acidic cluster sorting protein 1, also known as PACS-1, is a protein that in humans is... more...

Related Diseases for Pacs1 Syndrome

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



Diseases related to Pacs1 Syndrome

Symptoms & Phenotypes for Pacs1 Syndrome

Drugs & Therapeutics for Pacs1 Syndrome

Search Clinical Trials , NIH Clinical Center for Pacs1 Syndrome

Genetic Tests for Pacs1 Syndrome

Anatomical Context for Pacs1 Syndrome

MalaCards organs/tissues related to Pacs1 Syndrome:

40
Eye, Brain, Heart, Testes, B Cells, T Cells, Kidney

Publications for Pacs1 Syndrome

Articles related to Pacs1 Syndrome:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Self-reported Secondhand Marijuana Smoke (SHMS) Exposure in Two New York City (NYC) Subsidized Housing Settings, 2018: NYC Housing Authority and Lower-Income Private Sector Buildings. 61
31807996 2020
2
Somatic hypermutation analysis for improved identification of B cell clonal families from next-generation sequencing data. 61
32574157 2020
3
Determining the Fracture Process Zone Length and Mode I Stress Intensity Factor in Concrete Structures via Mechanoluminescent Technology. 61
32106579 2020
4
Prediction of median survival time in sepsis patients by the SOFA score combined with different predictors. 61
32346543 2020
5
Risk of secondary haematological malignancies in patients with follicular lymphoma: an analysis of 1028 patients treated in the rituximab era. 61
31267514 2019
6
Functional materials with self-healing properties: a review. 61
31406972 2019
7
Edible Mushrooms Reduce Atherosclerosis in Ldlr-/- Mice Fed a High-Fat Diet. 61
31162580 2019
8
Capturing the differences between humoral immunity in the normal and tumor environments from repertoire-seq of B-cell receptors using supervised machine learning. 61
31138102 2019
9
Schuurs-Hoeijmakers syndrome in a patient from India. 61
30690871 2019
10
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. 61
30611039 2019
11
[Establishment of the norms of Sub-Health Measurement Scale Version 1.0 for Chinese urban residents]. 61
31068303 2019
12
Strategies for brain-targeting liposomal delivery of small hydrophobic molecules in the treatment of neurodegenerative diseases. 61
30414950 2019
13
Managers' Practices of Tobacco and Marijuana Smoking Policies in Hispanic-Occupied Multiunit Housing. 61
31289789 2019
14
Piggery wastewater treatment by Acinetobacter sp. TX5 immobilized with spent mushroom substrate in a fixed-bed reactor. 61
30743858 2018
15
Semiconductor Hyperbolic Metamaterials at the Quantum Limit. 61
30420700 2018
16
Identification of a novel broadly HIV-1-neutralizing antibody from a CRF01_AE-infected Chinese donor. 61
30382080 2018
17
High-affinity IgM+ memory B cells are defective in differentiation into IgM antibody-secreting cells by re-stimulation with a T cell-dependent antigen. 61
30266961 2018
18
Structural Comparison of Human Anti-HIV-1 gp120 V3 Monoclonal Antibodies of the Same Gene Usage Induced by Vaccination and Chronic Infection. 61
29997214 2018
19
Risk of Hematologic Malignancies After Radioiodine Treatment of Well-Differentiated Thyroid Cancer. 61
29252123 2018
20
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. 61
30013564 2018
21
Generation, Diversity Determination, and Application to Antibody Selection of a Human Naïve Fab Library. 61
28927259 2017
22
[Sub-health status of middle school teachers and its correlation analysis with occupational stress]. 61
29081126 2017
23
Haematological malignancies following temozolomide treatment for paediatric high-grade glioma. 61
28586748 2017
24
Sequence intrinsic somatic mutation mechanisms contribute to affinity maturation of VRC01-class HIV-1 broadly neutralizing antibodies. 61
28747530 2017
25
Development and Application of a Structural Health Monitoring System Based on Wireless Smart Aggregates. 61
28714927 2017
26
Do socio-cultural factors influence college students' self-rated health status and health-promoting lifestyles? A cross-sectional multicenter study in Dalian, China. 61
28525995 2017
27
The Role of Healthy Lifestyle in the Implementation of Regressing Suboptimal Health Status among College Students in China: A Nested Case-Control Study. 61
28264509 2017
28
Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation. 61
28539926 2017
29
Chronic signs of memory B cell activation in patients with Behçet's disease are partially restored by anti-tumour necrosis factor treatment. 61
27744360 2017
30
Different Somatic Hypermutation Levels among Antibody Subclasses Disclosed by a New Next-Generation Sequencing-Based Antibody Repertoire Analysis. 61
28515723 2017
31
Chronic Lymphocytic Leukemia Patient Clustering Based on Somatic Hypermutation (SHM) Analysis. 61
28971394 2017
32
Directional and monochromatic thermal emitter from epsilon-near-zero conditions in semiconductor hyperbolic metamaterials. 61
27703223 2016
33
[Associations between health-promoting lifestyle and suboptimal health status in Guangdong: a cross sectional study]. 61
27113183 2016
34
An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors. 61
26647217 2016
35
Cognition, Depressive Symptoms and Vascular Factors among Southwest Tribal Elders. 61
27103775 2016
36
Work-Recreation Balance, Health-Promoting Lifestyles and Suboptimal Health Status in Southern China: A Cross-Sectional Study. 61
27007383 2016
37
[Effect of health-promoting lifestyle on outcomes of suboptimal health status]. 61
28219861 2016
38
Facile large scale preparation and electromagnetic properties of silica-nickel-carbon composite shelly hollow microspheres. 61
26726765 2016
39
Antigen Receptor-Intrinsic Non-Self: The Key to Understanding Regulatory Lymphocyte-Mediated Idiotypic Control of Adaptive Immune Responses. 61
27480901 2016
40
Maturational characteristics of HIV-specific antibodies in viremic individuals. 61
27152362 2016
41
BRILIA: Integrated Tool for High-Throughput Annotation and Lineage Tree Assembly of B-Cell Repertoires. 61
28144239 2016
42
An asymmetric antibody repertoire is shaped between plasmablasts and plasma cells after secondary immunization with (4-hydroxy-3-nitrophenyl)acetyl chicken γ-globulin. 61
26152273 2015
43
Analysis of Cannabinoids and Their Metabolites in Human Urine. 61
26411292 2015
44
Related Mechanisms of Antibody Somatic Hypermutation and Class Switch Recombination. 61
26104555 2015
45
Effects of TCMC on Transformation of Good Health Status to Suboptimal Health Status: A Nested Case-Control Study. 61
26346320 2015
46
Associations between breakfast eating habits and health-promoting lifestyle, suboptimal health status in Southern China: a population based, cross sectional study. 61
25496597 2014
47
Intraclonal diversity in follicular lymphoma analyzed by quantitative ultradeep sequencing of noncoding regions. 61
25311808 2014
48
Expansion and somatic hypermutation of B-cell clones in rejected human kidney grafts. 61
24825521 2014
49
Analysis of somatic hypermutations in the IgM switch region in human B cells. 61
24836470 2014
50
Association of lifestyle factors and suboptimal health status: a cross-sectional study of Chinese students. 61
24951109 2014

Variations for Pacs1 Syndrome

Expression for Pacs1 Syndrome

Search GEO for disease gene expression data for Pacs1 Syndrome.

Pathways for Pacs1 Syndrome

GO Terms for Pacs1 Syndrome

Sources for Pacs1 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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