MCID: SCH074
MIFTS: 24

Schuurs-Hoeijmakers Syndrome

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

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:



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)

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

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

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

Publications for Schuurs-Hoeijmakers Syndrome

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

Expression for Schuurs-Hoeijmakers Syndrome

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

Pathways for Schuurs-Hoeijmakers Syndrome

GO Terms for Schuurs-Hoeijmakers Syndrome

Sources for Schuurs-Hoeijmakers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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