SHMS
MCID: SCH074
MIFTS: 48

Schuurs-Hoeijmakers Syndrome (SHMS)

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

Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Name: Schuurs-Hoeijmakers Syndrome 57 12 20 73 29 6 15 39
Mental Retardation, Autosomal Dominant 17 57 73 13 71
Shms 57 12 20 73
Mrd17 57 12 73
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome 20 58
Pacs1-Related Syndrome 20 6
Mental Retardation, Autosomal Dominant 17; Mrd17 57
Autosomal Dominant Intellectual Disability-17 20
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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features. This condition is present from birth. Symptoms of PACS-1 related syndrome may include low muscle tone, feeding difficulties, constipation, seizures, and heart defects. PACS1-related syndrome is caused by a specific genetic variant in the PACS1 gene. In most cases, this gene variant is not inherited, but occurs as a new change during the making of the egg or the sperm. The diagnosis is based on the symptoms, a clinical examination, and may be confirmed by the results of genetic testing. As of 2017, less than 70 people have been diagnosed with this syndrome. Treatment for PACS1-related syndrome is focused on managing the symptoms, and may include medications to prevent seizures and placement of a feeding tube to help with weight gain.

MalaCards based summary : Schuurs-Hoeijmakers Syndrome, also known as mental retardation, autosomal dominant 17, is related to pacs1 neurodevelopmental disorder 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 brain, b cells and kidney, 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® : 57 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) (Updated 05-Mar-2021)

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:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 pacs1 neurodevelopmental disorder 11.4
2 pacs1 syndrome 11.3
3 alacrima, achalasia, and mental retardation syndrome 10.5
4 retina lymphoma 10.3 IGLL5 IGHV4-38-2
5 paraneoplastic cerebellar degeneration 10.3 CDR2 CDR1
6 cerebellar degeneration 10.3 CDR2 CDR1
7 acute diffuse nephritis 10.3 CDR2 CDR1
8 anosognosia 10.3 CDR2 CDR1
9 lipomyelomeningocele 10.2
10 heart septal defect 10.2
11 atrial heart septal defect 10.2
12 constipation 10.2
13 cleft lip 10.2
14 syphilitic meningitis 10.2 DUSP5 AICDA
15 retinitis pigmentosa 24 10.2 IGLL5 IGHV4-38-2 H2AC18
16 monoclonal paraproteinemia 10.2 IGHV4-38-2 CD19
17 cone-rod dystrophy 1 10.2 H2AC18 CDR2
18 eye lymphoma 10.2 IGHV4-38-2 CD19
19 gamma heavy chain disease 10.1 IGHV4-38-2 CD38
20 non-secretory myeloma 10.1 IGHV4-38-2 CD38
21 spherocytosis, type 1 10.1 IGHV4-38-2 H2AC18
22 immunodeficiency with hyper-igm, type 5 10.1 UNG AICDA
23 solitary osseous plasmacytoma 10.1 IGLL5 CD38
24 transient hypogammaglobulinemia of infancy 10.1 CD27 CD19
25 transient hypogammaglobulinemia 10.1 CD27 CD19
26 ichthyosis, congenital, autosomal recessive 11 10.1 SUPT5H H2AC18 AICDA
27 mental retardation, autosomal dominant 10 10.1 IGHV4-38-2 CD38
28 splenic disease 10.1 IGHV4-38-2 H2AC18 CD19
29 spleen cancer 10.1 IGHV4-38-2 CD19
30 arthrogryposis, distal, type 4 10.1 CD27 CD19
31 mental retardation, autosomal dominant 33 10.0 IGHV4-38-2 CD38
32 smoldering myeloma 10.0 IGHV4-38-2 CD38
33 gastroesophageal reflux 10.0
34 hypertelorism 10.0
35 cryptorchidism, unilateral or bilateral 10.0
36 ptosis 10.0
37 hypotonia 10.0
38 immunodeficiency with hyper-igm, type 4 10.0 UNG CD27 AICDA
39 hypersensitivity reaction type iv disease 10.0 H2AC18 CD27 CD19
40 immunoglobulin alpha deficiency 10.0 CD27 CD19 AICDA
41 chromosome 13q14 deletion syndrome 10.0 IGHV4-38-2 CD38
42 kabuki syndrome 1 10.0 IGHV4-38-2 H2AC18 CD38
43 primary bacterial infectious disease 10.0 H2AC18 CD27 CD19
44 b cell prolymphocytic leukemia 10.0 CD38 CD19
45 refractory hematologic cancer 9.9 CD38 CD19
46 mental retardation, autosomal dominant 36 9.9 CD38 CD19
47 invasive malignant thymoma 9.9 CD38 CD19
48 severe combined immunodeficiency with sensitivity to ionizing radiation 9.9 RAG2 H2AC18
49 retinitis pigmentosa 23 9.9 RAG2 IGHV4-38-2 H2AC18
50 lymphoma, mucosa-associated lymphoid type 9.9 IGHV4-38-2 DUSP5 CD19 AICDA

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 (show top 50) (show all 73)
# 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 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
9 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
10 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
11 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
20 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
21 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
22 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
23 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
24 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
25 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
26 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
27 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
28 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
29 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
30 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
31 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
32 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
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 single umbilical artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0001195
42 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
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 partial absence of cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002951

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
language delay
delayed psychomotor development
cerebellar hypoplasia (in some patients)
more
Abdomen Gastrointestinal:
constipation
feeding difficulties
difficulty eating solid food gastric reflux

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
behavioral abnormalities
autistic features
laughing episodes

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
flat philtrum

Skeletal Hands:
large hands (in 1 patient)

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
myopia
more
Skeletal Feet:
pes planus
large feet (in 1 patient)
high plantar arches (in 1 patient)

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 (Updated 05-Mar-2021)

UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:


seizures, constipation

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
Brain, B Cells, Kidney, Liver, Thyroid, Prostate

Publications for Schuurs-Hoeijmakers Syndrome

Articles related to Schuurs-Hoeijmakers Syndrome:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 20 57 6
26842493 2016
2
Mutation of PACS1: the milder end of the spectrum. 57 6
30113927 2018
3
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 6 57
25522177 2015
4
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 57 6
23159249 2012
5
Association between Dietary Patterns and Non-alcoholic Fatty Liver Disease: Results from a Case-Control Study. 61
33588566 2021
6
Left main stem fistula masquerading as an atrial septal defect in a gentleman with Schuurs-Hoeijmakers syndrome. 61
33554011 2021
7
Reported Marijuana and Tobacco Smoke Incursions Among Families Living in Multiunit Housing in New York City. 61
33460815 2021
8
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. 61
33369122 2020
9
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature. 61
33166031 2020
10
HIGHER ORDER IMMUNOGLOBULIN REPERTOIRE RESTRICTIONS IN CLL: THE ILLUSTRATIVE CASE OF STEREOTYPED SUBSETS #2 AND #169. 61
33036024 2020
11
Relationship Between Changes in Sedative-Hypnotic Medications Burden and Cognitive Outcomes in Hospitalized Older Adults. 61
31942612 2020
12
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. 61
32484799 2020
13
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
14
Somatic hypermutation analysis for improved identification of B cell clonal families from next-generation sequencing data. 61
32574157 2020
15
Determining the Fracture Process Zone Length and Mode I Stress Intensity Factor in Concrete Structures via Mechanoluminescent Technology. 61
32106579 2020
16
Prediction of median survival time in sepsis patients by the SOFA score combined with different predictors. 61
32346543 2020
17
Risk of secondary haematological malignancies in patients with follicular lymphoma: an analysis of 1028 patients treated in the rituximab era. 61
31267514 2019
18
Functional materials with self-healing properties: a review. 61
31406972 2019
19
Edible Mushrooms Reduce Atherosclerosis in Ldlr-/- Mice Fed a High-Fat Diet. 61
31162580 2019
20
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
21
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
22
Schuurs-Hoeijmakers syndrome in a patient from India. 61
30690871 2019
23
Schuurs-Hoeijmakers syndrome in two patients from Japan. 61
30588754 2019
24
[Establishment of the norms of Sub-Health Measurement Scale Version 1.0 for Chinese urban residents]. 61
31068303 2019
25
Strategies for brain-targeting liposomal delivery of small hydrophobic molecules in the treatment of neurodegenerative diseases. 61
30414950 2019
26
Managers' Practices of Tobacco and Marijuana Smoking Policies in Hispanic-Occupied Multiunit Housing. 61
31289789 2019
27
Piggery wastewater treatment by Acinetobacter sp. TX5 immobilized with spent mushroom substrate in a fixed-bed reactor. 61
30743858 2018
28
Semiconductor Hyperbolic Metamaterials at the Quantum Limit. 61
30420700 2018
29
Identification of a novel broadly HIV-1-neutralizing antibody from a CRF01_AE-infected Chinese donor. 61
30382080 2018
30
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
31
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
32
Risk of Hematologic Malignancies After Radioiodine Treatment of Well-Differentiated Thyroid Cancer. 61
29252123 2018
33
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 61
28975623 2018
34
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. 61
30013564 2018
35
[Schuurs-Hoeijmakers syndrome in a child]. 61
29343003 2018
36
Generation, Diversity Determination, and Application to Antibody Selection of a Human Naïve Fab Library. 61
28927259 2017
37
Haematological malignancies following temozolomide treatment for paediatric high-grade glioma. 61
28586748 2017
38
[Sub-health status of middle school teachers and its correlation analysis with occupational stress]. 61
29081126 2017
39
Sequence intrinsic somatic mutation mechanisms contribute to affinity maturation of VRC01-class HIV-1 broadly neutralizing antibodies. 61
28747530 2017
40
Development and Application of a Structural Health Monitoring System Based on Wireless Smart Aggregates. 61
28714927 2017
41
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
42
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
43
Different Somatic Hypermutation Levels among Antibody Subclasses Disclosed by a New Next-Generation Sequencing-Based Antibody Repertoire Analysis. 61
28515723 2017
44
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
45
Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation. 61
28539926 2017
46
Chronic Lymphocytic Leukemia Patient Clustering Based on Somatic Hypermutation (SHM) Analysis. 61
28971394 2017
47
Directional and monochromatic thermal emitter from epsilon-near-zero conditions in semiconductor hyperbolic metamaterials. 61
27703223 2016
48
Cognition, Depressive Symptoms and Vascular Factors among Southwest Tribal Elders. 61
27103775 2016
49
[Associations between health-promoting lifestyle and suboptimal health status in Guangdong: a cross sectional study]. 61
27113183 2016
50
An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors. 61
26647217 2016

Variations for Schuurs-Hoeijmakers Syndrome

ClinVar genetic disease variations for Schuurs-Hoeijmakers Syndrome:

6 (show all 24)
# 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.607C>T (p.Arg203Trp) SNV Pathogenic 39581 rs398123009 11:65978677-65978677 11:66211206-66211206
3 PACS1 NM_018026.4(PACS1):c.2776+5G>C SNV Uncertain significance 945180 11:66010507-66010507 11:66243036-66243036
4 PACS1 NM_018026.4(PACS1):c.2207+5G>C SNV Uncertain significance 473409 rs1285923468 11:66002879-66002879 11:66235408-66235408
5 PACS1 NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr) SNV Uncertain significance 473410 rs369846760 11:66008995-66008995 11:66241524-66241524
6 PACS1 NM_018026.4(PACS1):c.1413G>A (p.Thr471=) SNV Likely benign 734160 rs764849679 11:65998057-65998057 11:66230586-66230586
7 PACS1 NM_018026.4(PACS1):c.2412C>T (p.Ser804=) SNV Likely benign 754396 rs199759003 11:66006731-66006731 11:66239260-66239260
8 PACS1 NM_018026.4(PACS1):c.1293+6C>T SNV Likely benign 772157 rs369639320 11:65988724-65988724 11:66221253-66221253
9 PACS1 NM_018026.4(PACS1):c.385G>A (p.Val129Ile) SNV Likely benign 772455 rs115491121 11:65960985-65960985 11:66193514-66193514
10 PACS1 NM_018026.4(PACS1):c.1375-7A>G SNV Likely benign 778212 rs375226032 11:65998012-65998012 11:66230541-66230541
11 PACS1 NM_018026.4(PACS1):c.2115C>T (p.Asp705=) SNV Likely benign 588021 rs372958348 11:66002782-66002782 11:66235311-66235311
12 PACS1 NM_018026.4(PACS1):c.1199+10C>A SNV Likely benign 799433 rs199906288 11:65988272-65988272 11:66220801-66220801
13 PACS1 NM_018026.4(PACS1):c.1953C>T (p.Ser651=) SNV Likely benign 473408 rs115328615 11:66001370-66001370 11:66233899-66233899
14 PACS1 NM_018026.4(PACS1):c.858A>C (p.Ser286=) SNV Benign 588027 rs114730283 11:65984043-65984043 11:66216572-66216572
15 PACS1 NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) SNV Benign 588023 rs115947278 11:66001386-66001386 11:66233915-66233915
16 PACS1 NM_018026.4(PACS1):c.535-4G>A SNV Benign 588870 rs112192900 11:65978601-65978601 11:66211130-66211130
17 PACS1 NM_018026.4(PACS1):c.2061T>A (p.Ser687=) SNV Benign 129870 rs572697 11:66001670-66001670 11:66234199-66234199
18 PACS1 NM_018026.4(PACS1):c.957C>G (p.Thr319=) SNV Benign 588306 rs76179533 11:65984225-65984225 11:66216754-66216754
19 PACS1 NM_018026.4(PACS1):c.661-5C>G SNV Benign 589502 rs79265330 11:65983585-65983585 11:66216114-66216114
20 PACS1 NM_018026.4(PACS1):c.897+9C>G SNV Benign 707496 rs184374266 11:65984091-65984091 11:66216620-66216620
21 PACS1 NM_018026.4(PACS1):c.2376C>T (p.Ala792=) SNV Benign 588711 rs145601427 11:66006695-66006695 11:66239224-66239224
22 PACS1 NM_018026.4(PACS1):c.2454C>T (p.Asp818=) SNV Benign 436130 rs142615271 11:66008922-66008922 11:66241451-66241451
23 PACS1 NM_018026.4(PACS1):c.102G>A (p.Pro34=) SNV Benign 129868 rs75352646 11:65838059-65838059 11:66070588-66070588
24 PACS1 NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) SNV not provided 684554 rs750459659 11:65988132-65988132 11:66220661-66220661

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1 10.5 UNG RAG2 CD19 AICDA

GO Terms for Schuurs-Hoeijmakers Syndrome

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

# 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 CD27 CD19

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 complement activation, classical pathway GO:0006958 9.67 IGLL5 IGHV4-38-2 IGHV3-11
2 phagocytosis, engulfment GO:0006911 9.61 IGLL5 IGHV4-38-2 IGHV3-11
3 positive regulation of B cell activation GO:0050871 9.5 IGLL5 IGHV4-38-2 IGHV3-11
4 inactivation of MAPK activity GO:0000188 9.48 DUSP5 DUSP1
5 peptidyl-threonine dephosphorylation GO:0035970 9.46 DUSP5 DUSP1
6 phagocytosis, recognition GO:0006910 9.43 IGLL5 IGHV4-38-2 IGHV3-11
7 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 UNG AICDA
8 immunoglobulin mediated immune response GO:0016064 9.37 CD27 CD19
9 defense response to bacterium GO:0042742 9.26 RAG2 IGLL5 IGHV4-38-2 IGHV3-11
10 endoderm formation GO:0001706 9.16 DUSP5 DUSP1
11 B cell receptor signaling pathway GO:0050853 9.02 IGLL5 IGHV4-38-2 IGHV3-11 CD38 CD19

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

# Name GO ID Score Top Affiliating Genes
1 antigen binding GO:0003823 9.43 IGLL5 IGHV4-38-2 IGHV3-11
2 mitogen-activated protein kinase binding GO:0051019 9.32 DUSP5 DUSP1
3 MAP kinase tyrosine/serine/threonine phosphatase activity GO:0017017 9.16 DUSP5 DUSP1
4 immunoglobulin receptor binding GO:0034987 9.13 IGLL5 IGHV4-38-2 IGHV3-11
5 protein tyrosine/threonine phosphatase activity GO:0008330 8.62 DUSP5 DUSP1

Sources for Schuurs-Hoeijmakers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
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