SHMS
MCID: SCH074
MIFTS: 49

Schuurs-Hoeijmakers Syndrome (SHMS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Name: Schuurs-Hoeijmakers Syndrome 56 12 52 73 29 6 15 39
Mental Retardation, Autosomal Dominant 17 56 73 13 71
Shms 56 12 52 73
Mrd17 56 12 73
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome 52 58
Pacs1-Related Syndrome 52 6
Mental Retardation, Autosomal Dominant 17; Mrd17 56
Autosomal Dominant Intellectual Disability-17 52
Autosomal Dominant Mental Retardation 17 12

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
recurrent de novo mutation


HPO:

31
schuurs-hoeijmakers syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Schuurs-Hoeijmakers Syndrome

NIH Rare Diseases : 52 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 : Schuurs-Hoeijmakers Syndrome, also known as mental retardation, autosomal dominant 17, is related to leukemia, chronic lymphocytic and pacs1 syndrome, and has symptoms including seizures and constipation. An important gene associated with Schuurs-Hoeijmakers Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1), and among its related pathways/superpathways is Primary immunodeficiency. Affiliated tissues include testes, b cells and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.

OMIM : 56 Schuurs-Hoeijmakers syndrome is an autosomal dominant disorder characterized by mental retardation, distinct craniofacial features, and variable additional congenital abnormalities (summary by Schuurs-Hoeijmakers et al., 2016). (615009)

UniProtKB/Swiss-Prot : 73 Schuurs-Hoeijmakers syndrome: A syndromic form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. SHMS patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities.

Related Diseases for Schuurs-Hoeijmakers Syndrome

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

(showing 88, show less)
# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 28.9 IGLL5 IGHV4-38-2 H2AC18 DUSP5 CD40LG CD27
2 pacs1 syndrome 12.0
3 familiar or sporadic hemiplegic migraine 11.3
4 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 11.2
5 sporadic hemiplegic migraine 11.2
6 alacrima, achalasia, and mental retardation syndrome 10.6
7 retina lymphoma 10.5 IGLL5 IGHV4-38-2
8 paraneoplastic cerebellar degeneration 10.4 CDR2 CDR1
9 cerebellar degeneration 10.4 CDR2 CDR1
10 lipomyelomeningocele 10.4
11 constipation 10.4
12 cleft lip 10.4
13 acute diffuse nephritis 10.4 CDR2 CDR1
14 anosognosia 10.4 CDR2 CDR1
15 leiomyosarcoma 10.3
16 retinitis pigmentosa 24 10.3 IGLL5 IGHV4-38-2 H2AC18
17 arthrogryposis, distal, type 4 10.3 H2AC18 CD27
18 spastic paraplegia, ataxia, and mental retardation 10.2
19 lymphoma 10.2
20 diarrhea 10.2
21 isolated growth hormone deficiency 10.1 IGLL5 IGHV4-38-2 H2AC18 AICDA
22 gastroesophageal reflux 10.1
23 hypertelorism 10.1
24 cryptorchidism, unilateral or bilateral 10.1
25 ptosis 10.1
26 hypotonia 10.1
27 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1 RAG2 H2AC18
28 monoclonal paraproteinemia 10.0 IGHV4-38-2 CD40LG
29 gamma heavy chain disease 10.0 IGHV4-38-2 CD40LG
30 non-secretory myeloma 10.0 IGHV4-38-2 CD40LG
31 heart block, congenital 10.0 H2AC18 DDX41
32 transient hypogammaglobulinemia of infancy 9.9 CD40LG CD27
33 splenic disease 9.9 IGHV4-38-2 H2AC18 CD40LG
34 blood protein disease 9.9 IGHV4-38-2 H2AC18 CD40LG
35 crest syndrome 9.9 H2AC18 CD40LG
36 plasma cell neoplasm 9.8 IGLL5 IGHV4-38-2 CD40LG
37 smoldering myeloma 9.8 IGHV4-38-2 CD40LG
38 congenital rubella 9.8 UNG CD40LG
39 waldenstroem's macroglobulinemia 9.8 IGHV4-38-2 CD40LG CD27
40 monoclonal gammopathy of uncertain significance 9.8 IGHV4-38-2 CD40LG CD27
41 leukocyte disease 9.8 IGHV4-38-2 H2AC18 CD40LG
42 immunoglobulin alpha deficiency 9.8 CD40LG CD27 AICDA
43 cd40 ligand deficiency 9.8 CD40LG CD27 AICDA
44 severe combined immunodeficiency 9.8 RAG2 H2AC18 CDR2 CD27
45 western equine encephalitis 9.7 H2AC18 CD40LG
46 bone marrow cancer 9.7 IGHV4-38-2 H2AC18 CD40LG
47 syphilitic meningitis 9.7 DDX41 CD40LG
48 pfeiffer syndrome 9.7 H2AC18 CD40LG CD27
49 latent syphilis 9.7 DDX41 CD40LG
50 primary syphilis 9.7 DDX41 CD40LG
51 transient arthritis 9.7 DDX41 CD40LG
52 tertiary neurosyphilis 9.7 DDX41 CD40LG
53 immunodeficiency with hyper-igm, type 3 9.7 CD40LG AICDA
54 tertiary syphilis 9.7 DDX41 CD40LG
55 optic papillitis 9.6 DDX41 CD40LG
56 lymphoma, mucosa-associated lymphoid type 9.6 IGHV4-38-2 DUSP5 CD40LG AICDA
57 immunodeficiency with hyper-igm, type 5 9.6 UNG CD40LG AICDA
58 orchitis 9.6 H2AC18 CD40LG
59 congenital syphilis 9.6 DDX41 CD40LG
60 secondary syphilis 9.6 DDX41 CD40LG
61 late congenital syphilis 9.6 DDX41 CD40LG
62 autoimmune disease of cardiovascular system 9.6 H2AC18 DDX41 CD40LG
63 thymus gland disease 9.6 H2AC18 DDX41 CD40LG
64 thymus cancer 9.6 H2AC18 DDX41 CD40LG
65 autoimmune disease of endocrine system 9.6 H2AC18 DDX41 CD40LG
66 spinal cord disease 9.6 H2AC18 DDX41 CD40LG
67 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.5 H2AC18 DDX41 CD40LG
68 mature b-cell neoplasm 9.5 IGLL5 IGHV4-38-2 H2AC18 CD40LG AICDA
69 parasitic protozoa infectious disease 9.5 H2AC18 DDX41 CD40LG
70 autoimmune disease of musculoskeletal system 9.5 H2AC18 DDX41 CD40LG
71 integumentary system disease 9.5 H2AC18 CD40LG B3GNT2
72 mulchandani-bhoj-conlin syndrome 9.5 DDX41 CD40LG CD27
73 omenn syndrome 9.5 RAG2 IGHV4-38-2 CD40LG
74 spleen cancer 9.5 IGHV4-38-2 CD40LG
75 myeloma, multiple 9.4 IGLL5 IGHV4-38-2 H2AC18 CD40LG CD27
76 lymphoma, non-hodgkin, familial 9.4 IGHV4-38-2 H2AC18 CD40LG CD27 AICDA
77 combined t cell and b cell immunodeficiency 9.4 RAG2 H2AC18 CD40LG CD27
78 immunodeficiency with hyper-igm, type 4 9.4 UNG CD40LG CD27 AICDA
79 primary bacterial infectious disease 9.3 H2AC18 DDX41 CD40LG CD27
80 common variable immunodeficiency 9.3 RAG2 CD40LG CD27 AICDA
81 digeorge syndrome 9.3 RAG2 H2AC18 CD40LG CD27
82 b cell deficiency 9.2 RAG2 IGHV4-38-2 CD40LG CD27 AICDA
83 cone-rod dystrophy 2 9.1 DDX41 CDR2 CDR1 CD40LG CD27
84 immunodeficiency with hyper-igm, type 2 9.0 UNG SUPT5H IGHV4-38-2 H2AC18 CD40LG AICDA
85 amyotrophic lateral sclerosis 1 8.6 UNG SUPT5H H2AC18 DUSP1 DDX41 CDR2
86 immune deficiency disease 8.5 UNG SUPT5H RAG2 H2AC18 CD40LG CD27
87 immunodeficiency with hyper-igm, type 1 8.3 UNG SUPT5H RAG2 IGHV4-38-2 H2AC18 CD40LG
88 autosomal dominant non-syndromic intellectual disability 5.9 UNG SUPT5H RAG2 PACS1 IGLL5 IGHV4-38-2

Graphical network of the top 20 diseases related to Schuurs-Hoeijmakers Syndrome:



Diseases related to Schuurs-Hoeijmakers Syndrome

Symptoms & Phenotypes for Schuurs-Hoeijmakers Syndrome

Human phenotypes related to Schuurs-Hoeijmakers Syndrome:

58 31 (showing 73, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
7 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
8 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
9 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
10 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
11 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
12 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
13 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
14 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%) HP:0025160
15 oral aversion 58 31 frequent (33%) Frequent (79-30%) HP:0012523
16 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
17 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
18 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
19 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
22 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
23 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
24 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
25 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
26 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
27 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
28 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
29 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
30 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
31 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
32 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
33 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
34 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
35 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
36 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
37 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
38 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
39 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
40 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
41 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
42 single umbilical artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0001195
43 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
44 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
45 unsteady gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002317
46 abnormal renal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012210
47 slender finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001238
48 coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000589
49 decreased serum complement c3 58 31 occasional (7.5%) Occasional (29-5%) HP:0005421
50 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
51 diastema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000699
52 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
53 partial absence of cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002951
54 cavum septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002389
55 abnormal cardiac septum morphology 31 occasional (7.5%) HP:0001671
56 focal emotional seizure with laughing 31 occasional (7.5%) HP:0010821
57 delayed speech and language development 58 31 Very frequent (99-80%) HP:0000750
58 seizures 58 Frequent (79-30%)
59 feeding difficulties 31 HP:0011968
60 nystagmus 31 HP:0000639
61 strabismus 31 HP:0000486
62 ptosis 31 HP:0000508
63 myopia 31 HP:0000545
64 atrial septal defect 58 Occasional (29-5%)
65 large hands 31 HP:0001176
66 volvulus 31 HP:0002580
67 speech apraxia 31 HP:0011098
68 aggressive behavior 31 HP:0000718
69 generalized hypotonia 31 HP:0001290
70 long foot 31 HP:0001833
71 abnormality of brain morphology 58 Frequent (79-30%)
72 gelastic seizures 58 Occasional (29-5%)
73 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures
language delay
delayed psychomotor development
cerebellar hypoplasia (in some patients)
more
Skeletal Feet:
pes planus
large feet (in 1 patient)
high plantar arches (in 1 patient)

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
bicuspid aortic valve
patent ductus arteriosus
patent foramen ovale
septal defects (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
behavioral abnormalities
laughing episodes

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
flat philtrum

Skeletal Hands:
large hands (in 1 patient)

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
ptosis
myopia
more
Abdomen Gastrointestinal:
feeding difficulties
constipation
difficulty eating solid food gastric reflux

Head And Neck Ears:
low-set ears
simple ears

Head And Neck Mouth:
wide mouth
thin upper lip
downturned corners of the mouth
oromotor sensitivity

Head And Neck Teeth:
diastema

Head And Neck Nose:
bulbous tip

Genitourinary Kidneys:
renal defects (in some patients)

Immunology:
decrease in complement factor c3 (in 1 patient)

Clinical features from OMIM:

615009

UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:


seizures, constipation

MGI Mouse Phenotypes related to Schuurs-Hoeijmakers Syndrome:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 AICDA B3GNT2 CD27 CD40LG DDX41 DUSP1
2 immune system MP:0005387 9.32 AICDA B3GNT2 CD27 CD40LG DDX41 DUSP1

Drugs & Therapeutics for Schuurs-Hoeijmakers Syndrome

Search Clinical Trials , NIH Clinical Center for Schuurs-Hoeijmakers Syndrome

Genetic Tests for Schuurs-Hoeijmakers Syndrome

Genetic tests related to Schuurs-Hoeijmakers Syndrome:

# Genetic test Affiliating Genes
1 Schuurs-Hoeijmakers Syndrome 29 PACS1

Anatomical Context for Schuurs-Hoeijmakers Syndrome

MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:

40
Testes, B Cells, Brain, T Cells, Kidney, Thyroid, Prostate

Publications for Schuurs-Hoeijmakers Syndrome

Articles related to Schuurs-Hoeijmakers Syndrome:

(showing 78, show less)
# Title Authors PMID Year
1
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 52 56 6
26842493 2016
2
Mutation of PACS1: the milder end of the spectrum. 6 56
30113927 2018
3
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 6 56
25522177 2015
4
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 56 6
23159249 2012
5
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
6
Somatic hypermutation analysis for improved identification of B cell clonal families from next-generation sequencing data. 61
32574157 2020
7
Determining the Fracture Process Zone Length and Mode I Stress Intensity Factor in Concrete Structures via Mechanoluminescent Technology. 61
32106579 2020
8
Prediction of median survival time in sepsis patients by the SOFA score combined with different predictors. 61
32346543 2020
9
Risk of secondary haematological malignancies in patients with follicular lymphoma: an analysis of 1028 patients treated in the rituximab era. 61
31267514 2019
10
Functional materials with self-healing properties: a review. 61
31406972 2019
11
Edible Mushrooms Reduce Atherosclerosis in Ldlr-/- Mice Fed a High-Fat Diet. 61
31162580 2019
12
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
13
Schuurs-Hoeijmakers syndrome in a patient from India. 61
30690871 2019
14
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
15
[Establishment of the norms of Sub-Health Measurement Scale Version 1.0 for Chinese urban residents]. 61
31068303 2019
16
Schuurs-Hoeijmakers syndrome in two patients from Japan. 61
30588754 2019
17
Strategies for brain-targeting liposomal delivery of small hydrophobic molecules in the treatment of neurodegenerative diseases. 61
30414950 2019
18
Managers' Practices of Tobacco and Marijuana Smoking Policies in Hispanic-Occupied Multiunit Housing. 61
31289789 2019
19
Piggery wastewater treatment by Acinetobacter sp. TX5 immobilized with spent mushroom substrate in a fixed-bed reactor. 61
30743858 2018
20
Semiconductor Hyperbolic Metamaterials at the Quantum Limit. 61
30420700 2018
21
Identification of a novel broadly HIV-1-neutralizing antibody from a CRF01_AE-infected Chinese donor. 61
30382080 2018
22
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
23
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
24
Risk of Hematologic Malignancies After Radioiodine Treatment of Well-Differentiated Thyroid Cancer. 61
29252123 2018
25
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 61
28975623 2018
26
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. 61
30013564 2018
27
[Schuurs-Hoeijmakers syndrome in a child]. 61
29343003 2018
28
Generation, Diversity Determination, and Application to Antibody Selection of a Human Naïve Fab Library. 61
28927259 2017
29
Haematological malignancies following temozolomide treatment for paediatric high-grade glioma. 61
28586748 2017
30
Sequence intrinsic somatic mutation mechanisms contribute to affinity maturation of VRC01-class HIV-1 broadly neutralizing antibodies. 61
28747530 2017
31
[Sub-health status of middle school teachers and its correlation analysis with occupational stress]. 61
29081126 2017
32
Development and Application of a Structural Health Monitoring System Based on Wireless Smart Aggregates. 61
28714927 2017
33
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
34
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
35
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
36
Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation. 61
28539926 2017
37
Different Somatic Hypermutation Levels among Antibody Subclasses Disclosed by a New Next-Generation Sequencing-Based Antibody Repertoire Analysis. 61
28515723 2017
38
Chronic Lymphocytic Leukemia Patient Clustering Based on Somatic Hypermutation (SHM) Analysis. 61
28971394 2017
39
Directional and monochromatic thermal emitter from epsilon-near-zero conditions in semiconductor hyperbolic metamaterials. 61
27703223 2016
40
[Associations between health-promoting lifestyle and suboptimal health status in Guangdong: a cross sectional study]. 61
27113183 2016
41
An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors. 61
26647217 2016
42
Cognition, Depressive Symptoms and Vascular Factors among Southwest Tribal Elders. 61
27103775 2016
43
Work-Recreation Balance, Health-Promoting Lifestyles and Suboptimal Health Status in Southern China: A Cross-Sectional Study. 61
27007383 2016
44
Facile large scale preparation and electromagnetic properties of silica-nickel-carbon composite shelly hollow microspheres. 61
26726765 2016
45
[Effect of health-promoting lifestyle on outcomes of suboptimal health status]. 61
28219861 2016
46
Antigen Receptor-Intrinsic Non-Self: The Key to Understanding Regulatory Lymphocyte-Mediated Idiotypic Control of Adaptive Immune Responses. 61
27480901 2016
47
Maturational characteristics of HIV-specific antibodies in viremic individuals. 61
27152362 2016
48
BRILIA: Integrated Tool for High-Throughput Annotation and Lineage Tree Assembly of B-Cell Repertoires. 61
28144239 2016
49
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
50
Analysis of Cannabinoids and Their Metabolites in Human Urine. 61
26411292 2015
51
Related Mechanisms of Antibody Somatic Hypermutation and Class Switch Recombination. 61
26104555 2015
52
Effects of TCMC on Transformation of Good Health Status to Suboptimal Health Status: A Nested Case-Control Study. 61
26346320 2015
53
Associations between breakfast eating habits and health-promoting lifestyle, suboptimal health status in Southern China: a population based, cross sectional study. 61
25496597 2014
54
Intraclonal diversity in follicular lymphoma analyzed by quantitative ultradeep sequencing of noncoding regions. 61
25311808 2014
55
Expansion and somatic hypermutation of B-cell clones in rejected human kidney grafts. 61
24825521 2014
56
Analysis of somatic hypermutations in the IgM switch region in human B cells. 61
24836470 2014
57
Association of lifestyle factors and suboptimal health status: a cross-sectional study of Chinese students. 61
24951109 2014
58
Secondary hormonal manipulation in castration resistant prostate cancer. 61
24775722 2014
59
Large-scale analysis of somatic hypermutations in antibodies reveals which structural regions, positions and amino acids are modified to improve affinity. 61
24279419 2014
60
Full-scale measurements and system identification on Sutong cable-stayed bridge during Typhoon Fung-Wong. 61
24995367 2014
61
Silicone hydrogel mini-scleral contact lenses in early stage after corneal collagen cross-linking for keratoconus: a retrospective case series. 61
23506012 2013
62
[Relationship between health-promoting lifestyle and sub-health status in the employees of an enterprise]. 61
23996767 2013
63
Dual microfluidic perifusion networks for concurrent islet perifusion and optical imaging. 61
21850483 2012
64
Genome-wide detection of genes targeted by non-Ig somatic hypermutation in lymphoma. 61
22808135 2012
65
Effects of chronic nanoparticulate silver exposure to adult and juvenile sheepshead minnows (Cyprinodon variegatus). 61
21994144 2012
66
The presequence of Arabidopsis serine hydroxymethyltransferase SHM2 selectively prevents import into mesophyll mitochondria. 61
21976482 2011
67
[Preliminary study of Sub-Health Measurement Scale Version1.0 norms for Chinese civil servants]. 61
22027763 2011
68
[Assessment of the reliability and validity of the Sub-health Measurement Scale Version1.0]. 61
21269952 2011
69
Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones. 61
20505157 2010
70
T cell-independent IgA class switch recombination is restricted to the GALT and occurs prior to manifest germinal center formation. 61
20207993 2010
71
T cell-independent development and induction of somatic hypermutation in human IgM+ IgD+ CD27+ B cells. 61
18695003 2008
72
Cell origin of pyothorax-associated lymphoma: a lymphoma strongly associated with Epstein-Barr virus infection. 61
18079737 2008
73
Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. 61
17560278 2007
74
Analysis of the expressed heavy chain variable-region genes of Macaca fascicularis and isolation of monoclonal antibodies specific for the Ebola virus' soluble glycoprotein. 61
16215733 2005
75
The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. 61
16102576 2005
76
Thymic function and immunoglobulin mutation genotype in B-cell chronic lymphocytic leukemia patients. 61
14601055 2003
77
The absence of DNA polymerase kappa does not affect somatic hypermutation of the mouse immunoglobulin heavy chain gene. 61
12706529 2003
78
Establishment, characterization and viral susceptibility of 3 new cell lines from snakehead, Channa striatus (Blooch). 61
15801161 2003

Variations for Schuurs-Hoeijmakers Syndrome

ClinVar genetic disease variations for Schuurs-Hoeijmakers Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PACS1 NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)SNV Pathogenic 39581 rs398123009 11:65978677-65978677 11:66211206-66211206
2 PACS1 NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr)SNV Uncertain significance 473410 rs369846760 11:66008995-66008995 11:66241524-66241524
3 PACS1 NM_018026.4(PACS1):c.2207+5G>CSNV Uncertain significance 473409 rs1285923468 11:66002879-66002879 11:66235408-66235408
4 PACS1 NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)SNV Uncertain significance 684554 11:65988132-65988132 11:66220661-66220661
5 PACS1 NM_018026.4(PACS1):c.385G>A (p.Val129Ile)SNV Likely benign 772455 11:65960985-65960985 11:66193514-66193514
6 PACS1 NM_018026.4(PACS1):c.1413G>A (p.Thr471=)SNV Likely benign 734160 11:65998057-65998057 11:66230586-66230586
7 PACS1 NM_018026.4(PACS1):c.2412C>T (p.Ser804=)SNV Likely benign 754396 11:66006731-66006731 11:66239260-66239260
8 PACS1 NM_018026.4(PACS1):c.1375-7A>GSNV Likely benign 778212 11:65998012-65998012 11:66230541-66230541
9 PACS1 NM_018026.4(PACS1):c.1293+6C>TSNV Likely benign 772157 11:65988724-65988724 11:66221253-66221253
10 PACS1 NM_018026.4(PACS1):c.1199+10C>ASNV Likely benign 799433 11:65988272-65988272 11:66220801-66220801
11 PACS1 NM_018026.4(PACS1):c.1953C>T (p.Ser651=)SNV Likely benign 473408 rs115328615 11:66001370-66001370 11:66233899-66233899
12 PACS1 NM_018026.4(PACS1):c.2115C>T (p.Asp705=)SNV Likely benign 588021 rs372958348 11:66002782-66002782 11:66235311-66235311
13 PACS1 NM_018026.4(PACS1):c.535-4G>ASNV Benign/Likely benign 588870 rs112192900 11:65978601-65978601 11:66211130-66211130
14 PACS1 NM_018026.4(PACS1):c.2454C>T (p.Asp818=)SNV Benign/Likely benign 436130 rs142615271 11:66008922-66008922 11:66241451-66241451
15 PACS1 NM_018026.4(PACS1):c.661-5C>GSNV Benign/Likely benign 589502 rs79265330 11:65983585-65983585 11:66216114-66216114
16 PACS1 NM_018026.4(PACS1):c.897+9C>GSNV Benign 707496 11:65984091-65984091 11:66216620-66216620
17 PACS1 NM_018026.4(PACS1):c.2376C>T (p.Ala792=)SNV Benign 588711 rs145601427 11:66006695-66006695 11:66239224-66239224
18 PACS1 NM_018026.4(PACS1):c.858A>C (p.Ser286=)SNV Benign 588027 rs114730283 11:65984043-65984043 11:66216572-66216572
19 PACS1 NM_018026.4(PACS1):c.1969A>C (p.Met657Leu)SNV Benign 588023 rs115947278 11:66001386-66001386 11:66233915-66233915
20 PACS1 NM_018026.4(PACS1):c.957C>G (p.Thr319=)SNV Benign 588306 rs76179533 11:65984225-65984225 11:66216754-66216754
21 PACS1 NM_018026.4(PACS1):c.102G>A (p.Pro34=)SNV Benign 129868 rs75352646 11:65838059-65838059 11:66070588-66070588
22 PACS1 NM_018026.4(PACS1):c.2061T>A (p.Ser687=)SNV Benign 129870 rs572697 11:66001670-66001670 11:66234199-66234199

UniProtKB/Swiss-Prot genetic disease variations for Schuurs-Hoeijmakers Syndrome:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PACS1 p.Arg203Trp VAR_069534 rs398123009

Expression for Schuurs-Hoeijmakers Syndrome

Search GEO for disease gene expression data for Schuurs-Hoeijmakers Syndrome.

Pathways for Schuurs-Hoeijmakers Syndrome

Pathways related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:

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# Super pathways Score Top Affiliating Genes
1 10.5 UNG RAG2 CD40LG AICDA

GO Terms for Schuurs-Hoeijmakers Syndrome

Cellular components related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:

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# Name GO ID Score Top Affiliating Genes
1 immunoglobulin complex, circulating GO:0042571 9.13 IGLL5 IGHV4-38-2 IGHV3-11
2 external side of plasma membrane GO:0009897 9.02 IGLL5 IGHV4-38-2 IGHV3-11 CD40LG CD27

Biological processes related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:

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# Name GO ID Score Top Affiliating Genes
1 B cell receptor signaling pathway GO:0050853 9.65 IGLL5 IGHV4-38-2 IGHV3-11
2 phagocytosis, engulfment GO:0006911 9.63 IGLL5 IGHV4-38-2 IGHV3-11
3 inactivation of MAPK activity GO:0000188 9.51 DUSP5 DUSP1
4 positive regulation of B cell activation GO:0050871 9.5 IGLL5 IGHV4-38-2 IGHV3-11
5 peptidyl-threonine dephosphorylation GO:0035970 9.49 DUSP5 DUSP1
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.43 UNG AICDA
7 phagocytosis, recognition GO:0006910 9.43 IGLL5 IGHV4-38-2 IGHV3-11
8 peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity GO:1990264 9.4 DUSP5 DUSP1
9 endoderm formation GO:0001706 9.37 DUSP5 DUSP1
10 defense response to bacterium GO:0042742 9.35 RAG2 IGLL5 IGHV4-38-2 IGHV3-11 AICDA
11 B cell differentiation GO:0030183 9.33 RAG2 CD40LG AICDA
12 isotype switching GO:0045190 8.8 UNG CD40LG AICDA

Molecular functions related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:

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# Name GO ID Score Top Affiliating Genes
1 antigen binding GO:0003823 9.43 IGLL5 IGHV4-38-2 IGHV3-11
2 immunoglobulin receptor binding GO:0034987 9.33 IGLL5 IGHV4-38-2 IGHV3-11
3 MAP kinase tyrosine/serine/threonine phosphatase activity GO:0017017 8.96 DUSP5 DUSP1
4 protein tyrosine/threonine phosphatase activity GO:0008330 8.62 DUSP5 DUSP1

Sources for Schuurs-Hoeijmakers Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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32 ICD10
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35 IUPHAR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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