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

SHMS MCID: SCH074 MIFTS: 32	Schuurs-Hoeijmakers Syndrome (SHMS) Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Name: Schuurs-Hoeijmakers Syndrome ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵

Mental Retardation, Autosomal Dominant 17 ⁵⁷ ⁷⁵ ¹³ ⁷³

Mrd17 ⁵⁷ ¹² ⁷⁵

Shms ⁵⁷ ¹² ⁷⁵

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome ⁵⁹

Mental Retardation, Autosomal Dominant 17; Mrd17 ⁵⁷

Autosomal Dominant Mental Retardation 17 ¹²

Schuurs-Hoeijmakers Syndrome ) ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
recurrent de novo mutation

HPO:

³²

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: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615009

Disease Ontology ¹² DOID:0070047

Orphanet ⁵⁹ ORPHA329224

MedGen ⁴² C3554343 CN164257

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 263681008 204878001 40159009 more

UMLS ⁷³ C3554343

Sources

Summaries for Schuurs-Hoeijmakers Syndrome

UniProtKB/Swiss-Prot : ⁷⁵ 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 hemiplegic migraine, 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 hypertelorism and low-set ears

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)

Sources

Related Diseases for Schuurs-Hoeijmakers Syndrome

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

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	pacs1-related syndrome	11.5
2	hemiplegic migraine	11.1
3	postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	11.1
4	sporadic hemiplegic migraine	11.1
5	leukemia, chronic lymphocytic 2	10.0
6	leukemia, chronic lymphocytic	10.0
7	leukemia	10.0
8	lymphocytic leukemia	10.0
9	leukemia, b-cell, chronic	10.0
10	autosomal dominant non-syndromic intellectual disability	10.0	AICDA PACS1
11	b-cell lymphomas	9.9	AICDA TCL1A
12	burkitt lymphoma	9.8	AICDA TCL1A
13	lymphoma, non-hodgkin, familial	9.7	AICDA BACH2 TCL1A

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

Sources

Symptoms & Phenotypes for Schuurs-Hoeijmakers Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

Cardiovascular Heart:
septal defects (in some patients)

Head And Neck Ears:
low-set ears
simple ears

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
behavioral abnormalities

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
flat philtrum

Genitourinary Kidneys:
renal defects (in some patients)

Clinical features from OMIM:

615009

Human phenotypes related to Schuurs-Hoeijmakers Syndrome:

³² (show all 36)

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

UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:

seizures, constipation

Sources

Drugs & Therapeutics for Schuurs-Hoeijmakers Syndrome

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

Sources

Genetic Tests for Schuurs-Hoeijmakers Syndrome

Genetic tests related to Schuurs-Hoeijmakers Syndrome:

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

Sources

Anatomical Context for Schuurs-Hoeijmakers Syndrome

MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:

⁴¹

B Cells

Sources

Publications for Schuurs-Hoeijmakers Syndrome

Sources

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	1684.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23159249 25522177 26842493
2	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	16.52	DISEASES inferred ¹⁵
3	BAZ2B	Bromodomain Adjacent To Zinc Finger Domain 2B	Protein Coding	15.65	DISEASES inferred ¹⁵
4	TCL1A	T Cell Leukemia/Lymphoma 1A	Protein Coding	15.38	DISEASES inferred ¹⁵
5	RAG2	Recombination Activating 2	Protein Coding	15.21	DISEASES inferred ¹⁵
6	BACH2	BTB Domain And CNC Homolog 2	Protein Coding	15.08	DISEASES inferred ¹⁵

Sources

Variations for Schuurs-Hoeijmakers Syndrome

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

⁷⁵

#	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		GRCh38	Chromosome 11, 66235408: 66235408
12	PACS1	NM_018026.3(PACS1): c.2207+5G> C	single nucleotide variant	Uncertain significance		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

Sources

Expression for Schuurs-Hoeijmakers Syndrome

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

Sources

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 ³⁷	10.19	AICDA RAG2

Sources

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	8.62	AICDA RAG2

Sources

Sources for Schuurs-Hoeijmakers Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Schuurs-Hoeijmakers Syndrome:

UMLS symptoms 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

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