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

MCID: SCH074 MIFTS: 24	Schuurs-Hoeijmakers Syndrome Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases
Genes Variations Related diseases Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Schuurs-Hoeijmakers Syndrome

MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:

Name: Schuurs-Hoeijmakers Syndrome ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶

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

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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 constipation and seizures. An important gene associated with Schuurs-Hoeijmakers Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). Related phenotypes are cryptorchidism and wide mouth

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)

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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:

#	Related Disease	Score	Top Affiliating Genes
1	pacs1-related syndrome	11.3
2	hemiplegic migraine	10.9

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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

GenitourinaryInternal GenitaliaMale:
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 35)

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

UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:

constipation, seizures

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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 ²⁹	PACS1

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Anatomical Context for Schuurs-Hoeijmakers Syndrome

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Publications for Schuurs-Hoeijmakers Syndrome

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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	1678.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23159249 25522177 26842493

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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

#	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.2454C> T (p.Asp818=)	single nucleotide variant	Benign/Likely benign	rs142615271	GRCh38	Chromosome 11, 66241451: 66241451
4	PACS1	NM_018026.3(PACS1): c.2454C> T (p.Asp818=)	single nucleotide variant	Benign/Likely benign	rs142615271	GRCh37	Chromosome 11, 66008922: 66008922
5	PACS1	NM_018026.3(PACS1): c.2527G> A (p.Ala843Thr)	single nucleotide variant	Uncertain significance	rs369846760	GRCh38	Chromosome 11, 66241524: 66241524
6	PACS1	NM_018026.3(PACS1): c.2527G> A (p.Ala843Thr)	single nucleotide variant	Uncertain significance	rs369846760	GRCh37	Chromosome 11, 66008995: 66008995
7	PACS1	NM_018026.3(PACS1): c.2207+5G> C	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 66002879: 66002879
8	PACS1	NM_018026.3(PACS1): c.2207+5G> C	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 66235408: 66235408
9	PACS1	NM_018026.3(PACS1): c.1953C> T (p.Ser651=)	single nucleotide variant	Likely benign	rs115328615	GRCh37	Chromosome 11, 66001370: 66001370
10	PACS1	NM_018026.3(PACS1): c.1953C> T (p.Ser651=)	single nucleotide variant	Likely benign	rs115328615	GRCh38	Chromosome 11, 66233899: 66233899

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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

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GO Terms for Schuurs-Hoeijmakers Syndrome

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Sources for Schuurs-Hoeijmakers Syndrome

¹ BioSystems

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³ CDC

⁴ Cell Signaling Technology

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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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

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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

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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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

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⁶⁶ Reactome

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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