SHMS
MCID: SCH074
MIFTS: 32

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 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:



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)

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

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

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

MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:

41
B Cells

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 (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

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 10.19 AICDA RAG2

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 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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