SHMS
MCID: SCH074
MIFTS: 34

Schuurs-Hoeijmakers Syndrome (SHMS)

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

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:



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. 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)

Related Diseases for Schuurs-Hoeijmakers Syndrome

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:

33 (show all 36)
# 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 absent speech 33 HP:0001344
18 cryptorchidism 33 HP:0000028
19 wide intermamillary distance 33 HP:0006610
20 myopia 33 HP:0000545
21 wide mouth 33 HP:0000154
22 aggressive behavior 33 HP:0000718
23 downslanted palpebral fissures 33 HP:0000494
24 downturned corners of mouth 33 HP:0002714
25 bulbous nose 33 HP:0000414
26 thin upper lip vermilion 33 HP:0000219
27 low anterior hairline 33 HP:0000294
28 highly arched eyebrow 33 HP:0002553
29 long eyelashes 33 HP:0000527
30 synophrys 33 HP:0000664
31 generalized hypotonia 33 HP:0001290
32 volvulus 33 HP:0002580
33 single umbilical artery 33 HP:0001195
34 speech apraxia 33 HP:0011098
35 diastema 33 HP:0000699
36 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

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 30 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:

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 GRCh37 Chromosome 11, 66002879: 66002879
12 PACS1 NM_018026.3(PACS1): c.2207+5G> C single nucleotide variant Uncertain significance rs1285923468 GRCh38 Chromosome 11, 66235408: 66235408
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

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 10.37 AICDA RAG2 UNG

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

Sources for Schuurs-Hoeijmakers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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