PHMDS
MCID: PHL006
MIFTS: 49

Phelan-Mcdermid Syndrome (PHMDS)

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

Aliases & Classifications for Phelan-Mcdermid Syndrome

MalaCards integrated aliases for Phelan-Mcdermid Syndrome:

Name: Phelan-Mcdermid Syndrome 58 12 25 54 26 60 76 38 13 15 41
22q13.3 Deletion Syndrome 12 25 54 26 30 6 74
Chromosome 22q13.3 Deletion Syndrome 58 25 54 76
Telomeric 22q13 Monosomy Syndrome 58 76 74
Monosomy 22q13 54 26 60
Deletion 22q13.3 Syndrome 54 26
Deletion 22q13 Syndrome 25 26
Chromosome Deletion 45 74
22q13 Deletion 54 60
Phmds 58 76
Monosomy 22q13 Syndrome 12
22q13 Deletion Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
monosomy 22q13
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
phelan-mcdermid syndrome:
Inheritance sporadic


GeneReviews:

25
Penetrance Although it was previously thought that features of phelan-mcdermid syndrome were apparent in all individuals with non-mosaic 22q13.3 deletion that include shank3, recent evidence suggests that small deletions involving shank3 may be associated with non-penetrance and variable expressivity (see tabet et al [2017]). pathogenic variants in shank3 have been associated with phelan-mcdermid syndrome, nonsyndromic autism, and schizophrenia...

Classifications:



Summaries for Phelan-Mcdermid Syndrome

NIH Rare Diseases : 54 22q13.3 deletionsyndrome, also known as Phelan-McDermid syndrome, is a chromosome disorder 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) of the chromosome at a location designated as q13.3. Not everyone with 22q13.3 deletion syndrome will have the same medical, developmental, or behavioral problems (features). Common problems include low muscle tone (hypotonia), intellectual disability, developmental delays especially delayed or absent speech, and tendency to overheat. Children may be tall and thin. Differences in other physical features are usually mild and may include long eyelashes, down slanting eyes, large ears, ears without normal folding, bulb-like tip of nose, pointed chin, large hands, and toenails that flake off as infants and then become hard and brittle as age. Additional medical problems may include gastrointestinal problems such as chronic diarrhea, constipation, or gastroesophageal reflux, seizures, delayed fine motor skills, changes in the way the brain developed, kidney problems especially vesicoureteral reflux (VUR), vision problems such as strabismus, swelling of arms or legs (lymphedema) during teen years, and recurrent infections, especially ear infections. Unusual behaviors may include mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors such as flapping of hands and repetitive motions. Most reported cases of 22q13.3 deletion syndrome are caused by 22q13.3 deletions, which usually includes many genes. The loss or the variation (mutation) of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the common features associated with 22q13.3 deletion syndrome, especially intellectual disability, speech problems, low muscle tone, and developmental delay. Additional genes within the deleted area probably contribute to other features of the syndrome. In most cases, a larger deletion increases the number and severity of associated features, especially  the severity of low muscle tone, developmental delay, differences in physical features, speech, and autism-like behavior. Smaller deletions located closer to the tip of the 22q seem to be associated with fewer medical, developmental, and behavioral problems.

MalaCards based summary : Phelan-Mcdermid Syndrome, also known as 22q13.3 deletion syndrome, is related to partial deletion of y and male infertility, and has symptoms including seizures and reflex, abnormal. 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 Oxytocin and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are macrotia and delayed speech and language development

Disease Ontology : 12 A chromosome deletion syndrome that is has material basis in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by... 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 143)
# Related Disease Score Top Affiliating Genes
1 partial deletion of y 31.3 DAZ1 RBMY1A1 USP9Y
2 male infertility 29.6 DAZ1 RBMY1A1 USP9Y
3 azoospermia 29.1 AZF1 DAZ1 RBMY1A1 USP9Y
4 spermatogenic failure, x-linked, 1 29.0 DAZ1 RBMY1A1 USP9Y
5 chromosomal deletion syndrome 12.4
6 wolf-hirschhorn syndrome 11.3
7 smith-magenis syndrome 11.2
8 trichorhinophalangeal syndrome, type ii 11.2
9 ichthyosis, x-linked 11.2
10 y chromosome infertility 11.2
11 otodental dysplasia 11.0
12 cri-du-chat syndrome 10.9
13 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
14 chromosome 5q deletion syndrome 10.9
15 chromosome 9p deletion syndrome 10.9
16 thrombocytopenia, paris-trousseau type 10.9
17 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.9
18 chromosome 1p36 deletion syndrome 10.9
19 chromosome 10q26 deletion syndrome 10.9
20 chromosome 15q13.3 deletion syndrome 10.9
21 chromosome 14q11-q22 deletion syndrome 10.9
22 chromosome 13q14 deletion syndrome 10.9
23 chromosome 15q25 deletion syndrome 10.9
24 chromosome 15q11.2 deletion syndrome 10.9
25 chromosome 15q24 deletion syndrome 10.9
26 autism 10.8
27 autism spectrum disorder 10.8
28 neurofibromatosis, type iv, of riccardi 10.4
29 down syndrome 10.4
30 fragile x syndrome 10.4
31 bipolar disorder 10.4
32 hypogonadism 10.4
33 atypical teratoid rhabdoid tumor 10.4
34 rhabdoid cancer 10.4
35 hypogonadotropism 10.4
36 ring chromosome 22 10.4
37 speech and communication disorders 10.1
38 tracheobronchial stenosis, congenital 10.0
39 acute liver failure 10.0
40 tracheal stenosis 10.0
41 congenital tracheal stenosis 10.0
42 infertility 10.0
43 cryptorchidism, unilateral or bilateral 10.0 AZF1 DAZ1
44 metachromatic leukodystrophy 10.0
45 clark-baraitser syndrome 10.0
46 wilms tumor 5 10.0
47 alacrima, achalasia, and mental retardation syndrome 10.0
48 wilms tumor 6 10.0
49 autoimmune hepatitis 10.0
50 hepatitis 10.0

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



Diseases related to Phelan-Mcdermid Syndrome

Symptoms & Phenotypes for Phelan-Mcdermid Syndrome

Human phenotypes related to Phelan-Mcdermid Syndrome:

60 33 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 60 33 frequent (33%) Very frequent (99-80%) HP:0000400
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
4 hypoplastic toenails 60 33 frequent (33%) Very frequent (99-80%) HP:0001800
5 impaired pain sensation 60 33 frequent (33%) Very frequent (99-80%) HP:0007328
6 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
7 bruxism 60 33 frequent (33%) Very frequent (99-80%) HP:0003763
8 tall stature 33 hallmark (90%) HP:0000098
9 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
10 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
11 seizures 60 33 frequent (33%) Occasional (29-5%) HP:0001250
12 dental malocclusion 60 33 frequent (33%) Occasional (29-5%) HP:0000689
13 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
14 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
15 gastroesophageal reflux 60 33 frequent (33%) Occasional (29-5%) HP:0002020
16 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
17 immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002721
18 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
19 strabismus 60 33 frequent (33%) Occasional (29-5%) HP:0000486
20 epicanthus 60 33 frequent (33%) Occasional (29-5%) HP:0000286
21 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
22 hypohidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000966
23 lymphedema 60 33 frequent (33%) Occasional (29-5%) HP:0001004
24 palpebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0100540
25 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
26 clinodactyly of the 5th finger 60 33 frequent (33%) Occasional (29-5%) HP:0004209
27 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
28 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
29 sacral dimple 60 33 frequent (33%) Frequent (79-30%) HP:0000960
30 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
31 large hands 60 33 frequent (33%) Frequent (79-30%) HP:0001176
32 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
33 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
34 high palate 33 frequent (33%) HP:0000218
35 long philtrum 33 frequent (33%) HP:0000343
36 autism 33 frequent (33%) HP:0000717
37 2-3 toe syndactyly 33 frequent (33%) HP:0004691
38 unsteady gait 33 frequent (33%) HP:0002317
39 episodic vomiting 33 frequent (33%) HP:0002572
40 broad-based gait 33 frequent (33%) HP:0002136
41 heat intolerance 33 frequent (33%) HP:0002046
42 hyperorality 33 frequent (33%) HP:0000710
43 poor eye contact 33 frequent (33%) HP:0000817
44 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
45 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
46 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
47 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
48 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
49 hearing impairment 60 33 very rare (1%) Occasional (29-5%) HP:0000365
50 global developmental delay 60 33 very rare (1%) Occasional (29-5%) HP:0001263

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
dolichocephaly

Neurologic Central Nervous System:
seizures
global developmental delay
generalized hypotonia
delayed motor development
mental retardation, moderate to severe
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
poor communication
inappropriate chewing behavior
poor social interaction

Growth Height:
tall stature

Muscle Soft Tissue:
hypotonia, neonatal

Abdomen Gastrointestinal:
feeding difficulties, neonatal

Skin Nails Hair Skin:
tendency to overheat
lack of perspiration

Neurologic Peripheral Nervous System:
increased tolerance to pain
hyporeflexia, neonatal
abnormal reflexes

Head And Neck Eyes:
ptosis
epicanthal folds

Head And Neck Ears:
hearing impairment
dysplastic ears
prominent ears
simple ears

Head And Neck Face:
pointed chin
small chin
asymmetric face
prominent brow
maxillary prognathism, mild

Head And Neck Nose:
bulbous nasal tip
saddle nose

Growth Other:
normal to accelerated growth

Skeletal Hands:
large, fleshy hands

Skin Nails Hair Nails:
dysplastic toenails

Clinical features from OMIM:

606232

UMLS symptoms related to Phelan-Mcdermid Syndrome:


seizures, reflex, abnormal

Drugs & Therapeutics for Phelan-Mcdermid Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
2
Mecasermin Approved, Investigational Phase 2 68562-41-4
3
Zinc Approved, Investigational Phase 2 7440-66-6 32051
4 Oxytocics Phase 2
5 Pharmaceutical Solutions Phase 2
6 Insulin, Globin Zinc Phase 2
7 Hypoglycemic Agents Phase 2
8 insulin Phase 2
9 Mitogens Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Recruiting NCT02710084 Phase 2 Oxytocin;Saline
2 Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Recruiting NCT01525901 Phase 2 Insulin-Like Growth Factor-1 (IGF-1);Normal saline
3 AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy Recruiting NCT03493607 Phase 2 AMO-01
4 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Recruiting NCT03426059
5 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
6 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Active, not recruiting NCT02461420
7 Healthy Mind Healthy You: A Study of Mindfulness Not yet recruiting NCT03844321 Not Applicable

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 30 SHANK3

Anatomical Context for Phelan-Mcdermid Syndrome

MalaCards organs/tissues related to Phelan-Mcdermid Syndrome:

42
Eye, Kidney, Brain, Skin, Prostate, Tongue, B Cells

Publications for Phelan-Mcdermid Syndrome

Articles related to Phelan-Mcdermid Syndrome:

(show top 50) (show all 76)
# Title Authors Year
1
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. ( 30396833 )
2019
2
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. ( 30875393 )
2019
3
Incontinence in Phelan-McDermid Syndrome. ( 30921255 )
2019
4
A patient with Phelan-McDermid syndrome and dilation of the great vessels. ( 30997046 )
2019
5
Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome. ( 29875651 )
2018
6
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. ( 29377611 )
2018
7
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports. ( 28862395 )
2018
8
Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. ( 29210508 )
2018
9
Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. ( 29265961 )
2018
10
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. ( 29358616 )
2018
11
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). ( 29378768 )
2018
12
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. ( 29402632 )
2018
13
Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome. ( 29428507 )
2018
14
Reply to letter: "Brain MRI abnormalities resembling unidentified bright objects in a patient with Phelan- McDermid syndrome". ( 29429902 )
2018
15
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. ( 29719671 )
2018
16
X-ray Structures and Feasibility Assessment of CLK2 Inhibitors for Phelan-McDermid Syndrome. ( 29985556 )
2018
17
Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene. ( 30302388 )
2018
18
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism. ( 30308089 )
2018
19
Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility. ( 30376408 )
2018
20
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
21
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. ( 28255759 )
2017
22
Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan-McDermid Syndrome and autism. ( 27189882 )
2017
23
Phelan-McDermid Syndrome. ( 28320496 )
2017
24
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). ( 28346892 )
2017
25
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning. ( 28364490 )
2017
26
Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons. ( 28428614 )
2017
27
Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium. ( 28963116 )
2017
28
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. ( 29061681 )
2017
29
A framework to identify contributing genes in patients with Phelan-McDermid syndrome. ( 29263841 )
2017
30
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 )
2017
31
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder. ( 28289594 )
2016
32
Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome. ( 26822410 )
2016
33
Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. ( 26824576 )
2016
34
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. ( 26909118 )
2016
35
Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome. ( 26914612 )
2016
36
Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. ( 26981159 )
2016
37
Justice in Selecting Participants for a Study in Phelan-McDermid Syndrome. ( 26982937 )
2016
38
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
39
Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial. ( 27577546 )
2016
40
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome. ( 27741506 )
2016
41
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms. ( 28018439 )
2016
42
Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. ( 26094094 )
2016
43
Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. ( 27118998 )
2016
44
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. ( 26306707 )
2015
45
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. ( 26350728 )
2015
46
Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. ( 25894671 )
2015
47
Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. ( 26034557 )
2015
48
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. ( 24136618 )
2014
49
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 )
2014
50
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. ( 24481935 )
2014

Variations for Phelan-Mcdermid Syndrome

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

76
# 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 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHANK3 NM_033517.1(SHANK3): c.3883delG (p.Glu1295Argfs) deletion Pathogenic rs1555910212 GRCh37 Chromosome 22, 51160144: 51160144
2 SHANK3 NM_033517.1(SHANK3): c.3883delG (p.Glu1295Argfs) deletion Pathogenic rs1555910212 GRCh38 Chromosome 22, 50721716: 50721716
3 SHANK3 NM_033517.1(SHANK3): c.1305-532dup duplication Likely benign rs745950788 GRCh38 Chromosome 22, 50697277: 50697277
4 SHANK3 NM_033517.1(SHANK3): c.1305-532dup duplication Likely benign rs745950788 GRCh37 Chromosome 22, 51135705: 51135705
5 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 GRCh37 Chromosome 22, 51117094: 51117094
6 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 GRCh38 Chromosome 22, 50678666: 50678666
7 SHANK3 NM_033517.1(SHANK3): c.815A> G (p.Tyr272Cys) single nucleotide variant Uncertain significance rs1555905749 GRCh38 Chromosome 22, 50679358: 50679358
8 SHANK3 NM_033517.1(SHANK3): c.815A> G (p.Tyr272Cys) single nucleotide variant Uncertain significance rs1555905749 GRCh37 Chromosome 22, 51117786: 51117786
9 SHANK3 NM_033517.1(SHANK3): c.317A> C (p.Gln106Pro) single nucleotide variant Uncertain significance rs1555905307 GRCh37 Chromosome 22, 51115099: 51115099
10 SHANK3 NM_033517.1(SHANK3): c.317A> C (p.Gln106Pro) single nucleotide variant Uncertain significance rs1555905307 GRCh38 Chromosome 22, 50676671: 50676671
11 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs762292772 GRCh37 Chromosome 22, 51159940: 51159940
12 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs762292772 GRCh38 Chromosome 22, 50721512: 50721512
13 SHANK3 NM_033517.1(SHANK3): c.1010C> G (p.Thr337Ser) single nucleotide variant Uncertain significance rs869312715 GRCh37 Chromosome 22, 51123059: 51123059
14 SHANK3 NM_033517.1(SHANK3): c.1010C> G (p.Thr337Ser) single nucleotide variant Uncertain significance rs869312715 GRCh38 Chromosome 22, 50684631: 50684631
15 SHANK3 NM_033517.1(SHANK3): c.2908G> T (p.Ala970Ser) single nucleotide variant Uncertain significance rs530255181 GRCh37 Chromosome 22, 51159169: 51159169
16 SHANK3 NM_033517.1(SHANK3): c.2908G> T (p.Ala970Ser) single nucleotide variant Uncertain significance rs530255181 GRCh38 Chromosome 22, 50720741: 50720741
17 SHANK3 NM_033517.1(SHANK3): c.4029_4030del (p.Ser1343Argfs) deletion Pathogenic rs1057519395 GRCh38 Chromosome 22, 50721862: 50721863
18 SHANK3 NM_033517.1(SHANK3): c.4029_4030del (p.Ser1343Argfs) deletion Pathogenic rs1057519395 GRCh37 Chromosome 22, 51160290: 51160291
19 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 GRCh37 Chromosome 22, 51123079: 51123079
20 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 GRCh38 Chromosome 22, 50684651: 50684651
21 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic rs1555910162 GRCh37 Chromosome 22, 51159898: 51159898
22 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic rs1555910162 GRCh38 Chromosome 22, 50721470: 50721470
23 SHANK3 NM_033517.1(SHANK3): c.3679del (p.Ala1227Profs) deletion Pathogenic rs762292772 GRCh38 Chromosome 22, 50721512: 50721512
24 SHANK3 NM_033517.1(SHANK3): c.3679del (p.Ala1227Profs) deletion Pathogenic rs762292772 GRCh37 Chromosome 22, 51159940: 51159940
25 SHANK3 NM_033517.1(SHANK3): c.3627C> T (p.Leu1209=) single nucleotide variant Uncertain significance rs753765611 GRCh37 Chromosome 22, 51159888: 51159888
26 SHANK3 NM_033517.1(SHANK3): c.3627C> T (p.Leu1209=) single nucleotide variant Uncertain significance rs753765611 GRCh38 Chromosome 22, 50721460: 50721460
27 SHANK3 NM_033517.1: c.3623delG deletion Pathogenic GRCh38 Chromosome 22, 50721456: 50721456
28 SHANK3 NM_033517.1: c.3623delG deletion Pathogenic GRCh37 Chromosome 22, 51159884: 51159884
29 SHANK3 GRCh37/hg19 22q13.33(chr22: 51123491-51144365) copy number loss Pathogenic GRCh37 Chromosome 22, 51123491: 51144365
30 subset of 36 genes:SHANK3 GRCh37/hg19 22q13.32-13.33(chr22: 48533991-51178264) copy number loss Pathogenic GRCh37 Chromosome 22, 48533991: 51178264
31 subset of 94 genes:SHANK3; TCF20 GRCh37/hg19 22q13.2-13.33(chr22: 42416026-51181759) copy number loss Pathogenic GRCh37 Chromosome 22, 42416026: 51181759
32 SHANK3 GRCh37/hg19 22q13.33(chr22: 51132804-51144365) copy number loss Pathogenic GRCh37 Chromosome 22, 51132804: 51144365

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:

38
# 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 8.62 CLN3 SHANK3

Sources for Phelan-Mcdermid 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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