MCID: PHL006
MIFTS: 53

Phelan-Mcdermid Syndrome

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

Aliases & Classifications for Phelan-Mcdermid Syndrome

MalaCards integrated aliases for Phelan-Mcdermid Syndrome:

Name: Phelan-Mcdermid Syndrome 53 23 49 24 55 71 36 13
22q13.3 Deletion Syndrome 23 49 24 28 69
Chromosome 22q13.3 Deletion Syndrome 53 23 49 71
Telomeric 22q13 Monosomy Syndrome 53 71 69
Monosomy 22q13 49 24 55
Deletion 22q13.3 Syndrome 49 24
Deletion 22q13 Syndrome 23 24
Chromosome Deletion 41 69
Phmds 53 71
22q13 Deletion Syndrome 24
22q13 Deletion 55

Characteristics:

Orphanet epidemiological data:

55
monosomy 22q13
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
wide phenotypic variation
some patients do not have dysmorphic features
contiguous gene syndrome caused by deletion (160kb to 9mb) of 22q13.3 (in some patients)


HPO:

31
phelan-mcdermid syndrome:
Inheritance sporadic


GeneReviews:

23
Penetrance As expected, features of phelan-mcdermid syndrome are apparent in all individuals with non-mosaic deletion 22q13.3...

Classifications:



Summaries for Phelan-Mcdermid Syndrome

NIH Rare Diseases : 49 22q13.3 deletionsyndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome. Last updated: 12/6/2011

MalaCards based summary : Phelan-Mcdermid Syndrome, also known as 22q13.3 deletion syndrome, is related to partial deletion of y and infertility, and has symptoms including seizures, nausea and vomiting and macrocephaly. An important gene associated with Phelan-Mcdermid Syndrome is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways is Glutamatergic synapse. The drugs Zinc and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and kidney, and related phenotype is no phenotypic analysis.

Genetics Home Reference : 24 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.

OMIM : 53 Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007). (606232)

UniProtKB/Swiss-Prot : 71 Phelan-McDermid syndrome: A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.

Wikipedia : 72 22q13 deletion syndrome (spoken as twenty-two q one three, see Locus (genetics)) is a genetic disorder... more...

GeneReviews: NBK1198

Related Diseases for Phelan-Mcdermid Syndrome

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 partial deletion of y 31.3 DAZ1 RBMY1A1 USP9Y
2 infertility 28.9 DAZ1 DAZL USP9Y
3 male infertility 28.7 DAZ1 DAZL RBMY1A1 USP9Y
4 azoospermia 28.2 AZF1 DAZ1 DAZL RBMY1A1 USP9Y
5 chromosomal deletion syndrome 12.3
6 smith-magenis syndrome 11.0
7 trichorhinophalangeal syndrome, type ii 11.0
8 ichthyosis, x-linked 11.0
9 y chromosome infertility 11.0
10 otodental dysplasia 10.8
11 hypoparathyroidism, sensorineural deafness, and renal disease 10.7
12 chromosome 5q deletion syndrome 10.7
13 chromosome 9p deletion syndrome 10.7
14 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.7
15 autism 10.6
16 autism spectrum disorder 10.5
17 atrial septal defect 1 10.2
18 neurofibromatosis, type iv, of riccardi 10.2
19 down syndrome 10.2
20 fragile x syndrome 10.2
21 rhabdoid tumor predisposition syndrome 1 10.2
22 alacrima, achalasia, and mental retardation syndrome 10.2
23 bipolar disorder 10.2
24 chromosomal disease 10.2
25 hypogonadism 10.2
26 atypical teratoid rhabdoid tumor 10.2
27 neuronitis 10.2
28 ring chromosome 22 10.2
29 tracheobronchial stenosis, congenital 9.9
30 hepatitis 9.9
31 tracheal stenosis 9.9
32 congenital tracheal stenosis 9.9
33 heart disease 9.8
34 spermatogenic failure, y-linked, 2 9.8 DAZ1 RBMY1A1 USP9Y
35 aniridia 1 9.7
36 jacobsen syndrome 9.6
37 williams-beuren syndrome 9.6
38 wolf-hirschhorn syndrome 9.6
39 choroideremia 9.6
40 norrie disease 9.6
41 schizophrenia 9.6
42 retinitis pigmentosa 9.6
43 branchiootic syndrome 1 9.6
44 leber congenital amaurosis 4 9.6
45 chronic granulomatous disease 9.6
46 microphthalmia 9.6
47 prostatitis 9.6
48 ichthyosis 9.6
49 retinitis 9.6
50 reproductive system disease 9.6 DAZ1 DAZL RBMY1A1

Graphical network of the top 20 diseases related to Phelan-Mcdermid Syndrome:



Diseases related to Phelan-Mcdermid Syndrome

Symptoms & Phenotypes for Phelan-Mcdermid Syndrome

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
global developmental delay
generalized hypotonia
delayed motor development
mental retardation, moderate to severe
more
HeadAndNeckEyes:
ptosis
epicanthal folds

NeurologicBehavioralPsychiatricManifestations:
aggressive behavior
autistic features
poor communication
inappropriate chewing behavior
poor social interaction

GrowthHeight:
tall stature

MuscleSoftTissue:
hypotonia, neonatal

AbdomenGastrointestinal:
feeding difficulties, neonatal

SkinNailsHairSkin:
tendency to overheat
lack of perspiration

NeurologicPeripheralNervousSystem:
increased tolerance to pain
hyporeflexia, neonatal
abnormal reflexes

HeadAndNeckHead:
macrocephaly
dolichocephaly

HeadAndNeckEars:
hearing impairment
dysplastic ears
prominent ears
simple ears

HeadAndNeckFace:
pointed chin
asymmetric face
small chin
prominent brow
maxillary prognathism, mild

HeadAndNeckNose:
bulbous nasal tip
saddle nose

GrowthOther:
normal to accelerated growth

SkeletalHands:
large, fleshy hands

SkinNailsHairNails:
dysplastic toenails


Clinical features from OMIM:

606232

Human phenotypes related to Phelan-Mcdermid Syndrome:

55 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Occasional (29-5%) HP:0001250
2 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
3 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
4 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
5 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
6 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
7 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
8 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 hearing impairment 55 31 very rare (1%) Occasional (29-5%) HP:0000365
10 macrotia 55 31 frequent (33%) Very frequent (99-80%) HP:0000400
11 dental malocclusion 55 31 frequent (33%) Occasional (29-5%) HP:0000689
12 global developmental delay 55 31 very rare (1%) Occasional (29-5%) HP:0001263
13 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
14 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
15 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
16 thick eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0000574
17 neonatal hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001319
18 gastroesophageal reflux 55 31 frequent (33%) Occasional (29-5%) HP:0002020
19 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
20 immunodeficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002721
21 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
22 strabismus 55 31 frequent (33%) Occasional (29-5%) HP:0000486
23 epicanthus 55 31 frequent (33%) Occasional (29-5%) HP:0000286
24 dolichocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000268
25 hypohidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000966
26 lymphedema 55 31 frequent (33%) Occasional (29-5%) HP:0001004
27 hypoplastic toenails 55 31 frequent (33%) Very frequent (99-80%) HP:0001800
28 palpebral edema 55 31 frequent (33%) Frequent (79-30%) HP:0100540
29 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
30 clinodactyly of the 5th finger 55 31 frequent (33%) Occasional (29-5%) HP:0004209
31 dental crowding 55 31 occasional (7.5%) Occasional (29-5%) HP:0000678
32 impaired pain sensation 55 31 frequent (33%) Very frequent (99-80%) HP:0007328
33 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
34 bulbous nose 55 31 frequent (33%) Frequent (79-30%) HP:0000414
35 pointed chin 55 31 frequent (33%) Frequent (79-30%) HP:0000307
36 sacral dimple 55 31 frequent (33%) Frequent (79-30%) HP:0000960
37 long eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000527
38 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
39 large hands 55 31 frequent (33%) Frequent (79-30%) HP:0001176
40 accelerated skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005616
41 recurrent skin infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0001581
42 autistic behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000729
43 hyperactivity 55 31 frequent (33%) Frequent (79-30%) HP:0000752
44 arachnoid cyst 55 31 very rare (1%) Occasional (29-5%) HP:0100702
45 renal dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000110
46 hypermetropia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000540
47 bruxism 55 31 frequent (33%) Very frequent (99-80%) HP:0003763
48 cerebellar cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008278
49 hair-pulling 55 31 occasional (7.5%) Occasional (29-5%) HP:0012167
50 recurrent pyelonephritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012787

UMLS symptoms related to Phelan-Mcdermid Syndrome:


seizures, reflex, abnormal

MGI Mouse Phenotypes related to Phelan-Mcdermid Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.02 APPL2 CLN3 MYCN SHANK3 UBE3A

Drugs & Therapeutics for Phelan-Mcdermid Syndrome

Drugs for Phelan-Mcdermid Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 2 7440-66-6 32051 23994
2
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
3 Hypoglycemic Agents Phase 2
4 insulin Phase 2
5 Insulin, Globin Zinc Phase 2
6 Mitogens Phase 2
7 Pharmaceutical Solutions Phase 2
8 Oxytocics Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Completed NCT01525901 Phase 2 Insulin-Like Growth Factor-1 (IGF-1);Normal saline
2 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Recruiting NCT02710084 Phase 2 Oxytocin;Saline
3 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
4 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Active, not recruiting NCT02461420
5 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Not yet recruiting NCT03426059

Search NIH Clinical Center for Phelan-Mcdermid Syndrome

Cochrane evidence based reviews: chromosome deletion

Genetic Tests for Phelan-Mcdermid Syndrome

Genetic tests related to Phelan-Mcdermid Syndrome:

# Genetic test Affiliating Genes
1 22q13.3 Deletion Syndrome 28 SHANK3

Anatomical Context for Phelan-Mcdermid Syndrome

MalaCards organs/tissues related to Phelan-Mcdermid Syndrome:

38
Eye, Skin, Kidney, Tongue, Brain, Testes

Publications for Phelan-Mcdermid Syndrome

Articles related to Phelan-Mcdermid Syndrome:

(show top 50) (show all 51)
# Title Authors Year
1
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. ( 29358616 )
2018
2
Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome. ( 29428507 )
2018
3
Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. ( 29210508 )
2018
4
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. ( 29402632 )
2018
5
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. ( 29377611 )
2018
6
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). ( 29378768 )
2018
7
Phelan-McDermid syndrome due to<i>SHANK3</i>mutation in an intellectually disabled adult male: successful treatment with lithium. ( 28963116 )
2017
8
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. ( 28255759 )
2017
9
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports. ( 28862395 )
2017
10
Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder. ( 29126394 )
2017
11
Phelan-McDermid Syndrome. ( 28320496 )
2017
12
A framework to identify contributing genes in patients with Phelan-McDermid syndrome. ( 29263841 )
2017
13
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). ( 28346892 )
2017
14
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. ( 29061681 )
2017
15
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning. ( 28364490 )
2017
16
Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. ( 29265961 )
2017
17
Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons. ( 28428614 )
2017
18
Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. ( 26824576 )
2016
19
Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan-McDermid Syndrome and autism. ( 27189882 )
2016
20
Justice in Selecting Participants for a Study in Phelan-McDermid Syndrome. ( 26982937 )
2016
21
Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome. ( 26822410 )
2016
22
Sleep Disturbances in Individuals with Phelan-McDermid Syndrome: Correlation with Caregivers' Sleep Quality and Daytime Functioning. ( 27923425 )
2016
23
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. ( 26909118 )
2016
24
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder. ( 28289594 )
2016
25
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome. ( 27741506 )
2016
26
Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial. ( 27577546 )
2016
27
Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD. ( 27445720 )
2016
28
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms. ( 28018439 )
2016
29
Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome. ( 26914612 )
2016
30
Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. ( 25894671 )
2015
31
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. ( 26350728 )
2015
32
Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. ( 26034557 )
2015
33
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. ( 26306707 )
2015
34
A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs. ( 25411323 )
2014
35
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. ( 25685306 )
2014
36
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. ( 24481935 )
2014
37
Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively. ( 25241497 )
2014
38
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. ( 25784960 )
2014
39
Phelan-McDermid syndrome: clinical report of a 70-year-old woman. ( 23166010 )
2013
40
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region. ( 24375995 )
2013
41
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. ( 24136618 )
2013
42
Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism? ( 24078047 )
2013
43
Adult-onset psychosis and clinical genetics: a case of Phelan-McDermid syndrome. ( 24247879 )
2013
44
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? ( 22570549 )
2012
45
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). ( 22670140 )
2012
46
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). ( 21984749 )
2011
47
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. ( 21779178 )
2011
48
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism. ( 21271662 )
2011
49
Growth in Phelan-McDermid syndrome. ( 21834045 )
2011
50
Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. ( 19334084 )
2009

Variations for Phelan-Mcdermid Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Phelan-Mcdermid Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 SHANK3 p.Pro141Ala VAR_070259 rs397514705
2 SHANK3 p.Ala1452Ser VAR_070270

ClinVar genetic disease variations for Phelan-Mcdermid Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHANK3 NM_033517.1(SHANK3): c.3883delG (p.Glu1295Argfs) deletion Pathogenic GRCh37 Chromosome 22, 51160144: 51160144
2 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 GRCh37 Chromosome 22, 51117094: 51117094
3 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs797044936 GRCh37 Chromosome 22, 51159940: 51159940
4 SHANK3 NM_033517.1(SHANK3): c.4029_4030delTG (p.Ser1343Argfs) deletion Pathogenic rs1057519395 GRCh38 Chromosome 22, 50721862: 50721863
5 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 GRCh37 Chromosome 22, 51123079: 51123079
6 SHANK3 NM_033517.1(SHANK3): c.3679delG (p.Ala1227Profs) deletion Pathogenic rs762292772 GRCh38 Chromosome 22, 50721512: 50721512

Copy number variations for Phelan-Mcdermid Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 164258 22 35900000 49691432 Copy number SHANK3 Phelan-Mcdermid syndrome
2 164259 22 35900000 49691432 Deletion Phelan-Mcdermid syndrome
3 164260 22 35900000 49691432 Deletion Phelan-Mcdermid syndrome
4 165187 22 42600000 49691432 Deletion ProSAP2 Phelan-Mcdermid syndrome
5 165188 11 69991608 70420323 Deletion SHANK Phelan-Mcdermid syndrome

Expression for Phelan-Mcdermid Syndrome

Search GEO for disease gene expression data for Phelan-Mcdermid Syndrome.

Pathways for Phelan-Mcdermid Syndrome

Pathways related to Phelan-Mcdermid Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glutamatergic synapse hsa04724

GO Terms for Phelan-Mcdermid Syndrome

Biological processes related to Phelan-Mcdermid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling balance GO:0050885 9.26 CLN3 SHANK3
2 germ cell development GO:0007281 9.16 DAZ1 DAZL
3 positive regulation of translational initiation GO:0045948 8.96 DAZ1 DAZL
4 3-UTR-mediated mRNA stabilization GO:0070935 8.62 DAZ1 DAZL

Molecular functions related to Phelan-Mcdermid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3-UTR binding GO:0003730 9.16 DAZ1 DAZL
2 mRNA binding GO:0003729 9.13 DAZ1 DAZL RBMY1A1
3 translation activator activity GO:0008494 8.62 DAZ1 DAZL

Sources for Phelan-Mcdermid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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