Schuurs-Hoeijmakers Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SHMS MCID: SCH074 MIFTS: 36	Schuurs-Hoeijmakers Syndrome (SHMS) Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Name: Schuurs-Hoeijmakers Syndrome ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ¹⁵

Mental Retardation, Autosomal Dominant 17 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Mrd17 ⁵⁸ ¹² ⁷⁶

Shms ⁵⁸ ¹² ⁷⁶

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome ⁶⁰

Mental Retardation, Autosomal Dominant 17; Mrd17 ⁵⁸

Autosomal Dominant Mental Retardation 17 ¹²

Schuurs-Hoeijmakers Syndrome ) ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
recurrent de novo mutation

HPO:

³³

schuurs-hoeijmakers syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070047

OMIM ⁵⁸ 615009

MeSH ⁴⁵ D008607

Orphanet ⁶⁰ ORPHA329224

MedGen ⁴³ C3554343 CN164257

SNOMED-CT via HPO ⁷⁰ 11934000 128602000 128613002 more

UMLS ⁷⁴ C3554343

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Summaries for Schuurs-Hoeijmakers Syndrome

UniProtKB/Swiss-Prot : ⁷⁶ 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.

MalaCards based summary : Schuurs-Hoeijmakers Syndrome, also known as mental retardation, autosomal dominant 17, is related to pacs1-related syndrome 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 b cells, and related phenotypes are cerebellar hypoplasia and abnormal cardiac septum morphology

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 : ⁵⁸ 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)

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Related Diseases for Schuurs-Hoeijmakers Syndrome

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	pacs1-related syndrome	11.5
2	pacs1 syndrome	11.5
3	hemiplegic migraine	11.1
4	postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	11.1
5	sporadic hemiplegic migraine	11.1
6	leukemia, chronic lymphocytic 2	10.1
7	leukemia, chronic lymphocytic	10.1
8	leukemia	10.1
9	lymphocytic leukemia	10.1
10	leukemia, b-cell, chronic	10.1
11	immunodeficiency with hyper-igm, type 4	10.0	AICDA UNG
12	cd40 ligand deficiency	10.0	AICDA UNG
13	hyperimmunoglobulin syndrome	9.9	AICDA UNG
14	immunodeficiency with hyper-igm, type 1	9.9	AICDA UNG
15	immunodeficiency with hyper-igm, type 2	9.9	AICDA UNG
16	autosomal dominant non-syndromic intellectual disability	9.8	AICDA PACS1
17	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	9.6	ITIH4 RAG2

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

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Symptoms & Phenotypes for Schuurs-Hoeijmakers Syndrome

Human phenotypes related to Schuurs-Hoeijmakers Syndrome:

³³ (show all 40)

#	Description	HPO Frequency	HPO Source Accession
1	cerebellar hypoplasia ³³	occasional (7.5%)	HP:0001321
2	abnormal cardiac septum morphology ³³	occasional (7.5%)	HP:0001671
3	hypertelorism ³³		HP:0000316
4	low-set ears ³³		HP:0000369
5	ptosis ³³		HP:0000508
6	nystagmus ³³		HP:0000639
7	intellectual disability ³³		HP:0001249
8	seizures ³³		HP:0001250
9	constipation ³³		HP:0002019
10	macrotia ³³		HP:0000400
11	global developmental delay ³³		HP:0001263
12	delayed speech and language development ³³		HP:0000750
13	pes planus ³³		HP:0001763
14	smooth philtrum ³³		HP:0000319
15	feeding difficulties ³³		HP:0011968
16	strabismus ³³		HP:0000486
17	patent ductus arteriosus ³³		HP:0001643
18	absent speech ³³		HP:0001344
19	cryptorchidism ³³		HP:0000028
20	wide intermamillary distance ³³		HP:0006610
21	myopia ³³		HP:0000545
22	bicuspid aortic valve ³³		HP:0001647
23	wide mouth ³³		HP:0000154
24	aggressive behavior ³³		HP:0000718
25	downslanted palpebral fissures ³³		HP:0000494
26	downturned corners of mouth ³³		HP:0002714
27	bulbous nose ³³		HP:0000414
28	thin upper lip vermilion ³³		HP:0000219
29	low anterior hairline ³³		HP:0000294
30	highly arched eyebrow ³³		HP:0002553
31	long eyelashes ³³		HP:0000527
32	synophrys ³³		HP:0000664
33	generalized hypotonia ³³		HP:0001290
34	volvulus ³³		HP:0002580
35	single umbilical artery ³³		HP:0001195
36	patent foramen ovale ³³		HP:0001655
37	speech apraxia ³³		HP:0011098
38	long foot ³³		HP:0001833
39	diastema ³³		HP:0000699
40	cavum septum pellucidum ³³		HP:0002389

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
myopia
more

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

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 Ears:
low-set ears
simple ears

Abdomen Gastrointestinal:
constipation
feeding difficulties
difficulty eating solid food gastric reflux

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

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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	9.26	AICDA ITIH4 RAG2 UNG
2	normal	MP:0002873	8.92	AICDA ITIH4 RAG2 UNG

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Drugs & Therapeutics for Schuurs-Hoeijmakers Syndrome

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

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Genetic Tests for Schuurs-Hoeijmakers Syndrome

Genetic tests related to Schuurs-Hoeijmakers Syndrome:

#	Genetic test	Affiliating Genes
1	Schuurs-Hoeijmakers Syndrome ³⁰	PACS1

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Anatomical Context for Schuurs-Hoeijmakers Syndrome

MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:

⁴²

B Cells

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Publications for Schuurs-Hoeijmakers Syndrome

Articles related to Schuurs-Hoeijmakers Syndrome:

#	Title	Authors	Year
1	Mutation of PACS1: the milder end of the spectrum. ( 30113927 )	Martinez-Monseny A...Serrano M	2018
2	Clinical delineation of the PACS1-related syndrome--Report on 19 patients. ( 26842493 )	Schuurs-Hoeijmakers JH...DDD study	2016
3	Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. ( 25522177 )	Gadzicki D...Bartholdi D	2015
4	Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. ( 23159249 )	Schuurs-Hoeijmakers JH...Brunner HG	2012

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Genes for Schuurs-Hoeijmakers Syndrome

Genes related to Schuurs-Hoeijmakers Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PACS1	Phosphofurin Acidic Cluster Sorting Protein 1	Protein Coding	1686.07	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (gain of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23159249 25522177 26842493 (more) 30113927
2	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	16.41	DISEASES inferred ¹⁵
3	RAG2	Recombination Activating 2	Protein Coding	15.08	DISEASES inferred ¹⁵
4	BACH2	BTB Domain And CNC Homolog 2	Protein Coding	14.98	DISEASES inferred ¹⁵
5	ITIH4	Inter-Alpha-Trypsin Inhibitor Heavy Chain 4	Protein Coding	14.84	DISEASES inferred ¹⁵
6	UNG	Uracil DNA Glycosylase	Protein Coding	14.82	DISEASES inferred ¹⁵

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Variations for Schuurs-Hoeijmakers Syndrome

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PACS1	p.Arg203Trp	VAR_069534	rs398123009

ClinVar genetic disease variations for Schuurs-Hoeijmakers Syndrome:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PACS1	NM_018026.3(PACS1): c.607C> T (p.Arg203Trp)	single nucleotide variant	Pathogenic	rs398123009	GRCh37	Chromosome 11, 65978677: 65978677
2	PACS1	NM_018026.3(PACS1): c.607C> T (p.Arg203Trp)	single nucleotide variant	Pathogenic	rs398123009	GRCh38	Chromosome 11, 66211206: 66211206
3	PACS1	NM_018026.3(PACS1): c.102G> A (p.Pro34=)	single nucleotide variant	Benign	rs75352646	GRCh37	Chromosome 11, 65838059: 65838059
4	PACS1	NM_018026.3(PACS1): c.102G> A (p.Pro34=)	single nucleotide variant	Benign	rs75352646	GRCh38	Chromosome 11, 66070588: 66070588
5	PACS1	NM_018026.3(PACS1): c.2061T> A (p.Ser687=)	single nucleotide variant	Benign	rs572697	GRCh37	Chromosome 11, 66001670: 66001670
6	PACS1	NM_018026.3(PACS1): c.2061T> A (p.Ser687=)	single nucleotide variant	Benign	rs572697	GRCh38	Chromosome 11, 66234199: 66234199
7	PACS1	NM_018026.3(PACS1): c.2454C> T (p.Asp818=)	single nucleotide variant	Benign/Likely benign	rs142615271	GRCh38	Chromosome 11, 66241451: 66241451
8	PACS1	NM_018026.3(PACS1): c.2454C> T (p.Asp818=)	single nucleotide variant	Benign/Likely benign	rs142615271	GRCh37	Chromosome 11, 66008922: 66008922
9	PACS1	NM_018026.3(PACS1): c.2527G> A (p.Ala843Thr)	single nucleotide variant	Uncertain significance	rs369846760	GRCh38	Chromosome 11, 66241524: 66241524
10	PACS1	NM_018026.3(PACS1): c.2527G> A (p.Ala843Thr)	single nucleotide variant	Uncertain significance	rs369846760	GRCh37	Chromosome 11, 66008995: 66008995
11	PACS1	NM_018026.3(PACS1): c.2207+5G> C	single nucleotide variant	Uncertain significance	rs1285923468	GRCh38	Chromosome 11, 66235408: 66235408
12	PACS1	NM_018026.3(PACS1): c.2207+5G> C	single nucleotide variant	Uncertain significance	rs1285923468	GRCh37	Chromosome 11, 66002879: 66002879
13	PACS1	NM_018026.3(PACS1): c.1953C> T (p.Ser651=)	single nucleotide variant	Likely benign	rs115328615	GRCh38	Chromosome 11, 66233899: 66233899
14	PACS1	NM_018026.3(PACS1): c.1953C> T (p.Ser651=)	single nucleotide variant	Likely benign	rs115328615	GRCh37	Chromosome 11, 66001370: 66001370

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Expression for Schuurs-Hoeijmakers Syndrome

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

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Pathways for Schuurs-Hoeijmakers Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Primary immunodeficiency ³⁸	10.37	AICDA RAG2 UNG

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GO Terms for Schuurs-Hoeijmakers Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	B cell differentiation	GO:0030183	8.96	AICDA RAG2
2	somatic hypermutation of immunoglobulin genes	GO:0016446	8.62	AICDA UNG

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⁷⁶ UniProtKB/Swiss-Prot

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Schuurs-Hoeijmakers Syndrome (SHMS)

Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Schuurs-Hoeijmakers Syndrome

Related Diseases for Schuurs-Hoeijmakers Syndrome

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

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

Symptoms & Phenotypes for Schuurs-Hoeijmakers Syndrome

Human phenotypes related to Schuurs-Hoeijmakers Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:

MGI Mouse Phenotypes related to Schuurs-Hoeijmakers Syndrome:

Drugs & Therapeutics for Schuurs-Hoeijmakers Syndrome

Genetic Tests for Schuurs-Hoeijmakers Syndrome

Genetic tests related to Schuurs-Hoeijmakers Syndrome:

Anatomical Context for Schuurs-Hoeijmakers Syndrome

MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:

Publications for Schuurs-Hoeijmakers Syndrome

Articles related to Schuurs-Hoeijmakers Syndrome:

Genes for Schuurs-Hoeijmakers Syndrome

Genes related to Schuurs-Hoeijmakers Syndrome (1 elite genes):

Variations for Schuurs-Hoeijmakers Syndrome

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

ClinVar genetic disease variations for Schuurs-Hoeijmakers Syndrome:

Expression for Schuurs-Hoeijmakers Syndrome

Pathways for Schuurs-Hoeijmakers Syndrome

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

GO Terms for Schuurs-Hoeijmakers Syndrome

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

Sources for Schuurs-Hoeijmakers Syndrome