MCID: PHL006
MIFTS: 52

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 57 24 53 25 59 75 37 13 40
22q13.3 Deletion Syndrome 24 53 25 29 6 73
Chromosome 22q13.3 Deletion Syndrome 57 24 53 75
Telomeric 22q13 Monosomy Syndrome 57 75 73
Monosomy 22q13 53 25 59
Deletion 22q13.3 Syndrome 53 25
Deletion 22q13 Syndrome 24 25
Chromosome Deletion 44 73
22q13 Deletion 53 59
Phmds 57 75
22q13 Deletion Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
monosomy 22q13
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
phelan-mcdermid syndrome:
Inheritance sporadic


GeneReviews:

24
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 : 53 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 infertility, and has symptoms including reflex, abnormal and seizures. 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, kidney and brain, and related phenotypes are macrocephaly and malar flattening

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 57)
# Related Disease Score Top Affiliating Genes
1 partial deletion of y 31.0 DAZ1 RBMY1A1 USP9Y
2 infertility 28.4 DAZ1 DAZL USP9Y
3 male infertility 28.2 DAZ1 DAZL RBMY1A1 USP9Y
4 azoospermia 27.8 AZF1 DAZ1 DAZL RBMY1A1 USP9Y
5 chromosomal deletion syndrome 12.2
6 wolf-hirschhorn syndrome 11.2
7 smith-magenis syndrome 11.0
8 trichorhinophalangeal syndrome, type ii 11.0
9 ichthyosis, x-linked 11.0
10 y chromosome infertility 11.0
11 otodental dysplasia 10.8
12 cri-du-chat syndrome 10.7
13 hypoparathyroidism, sensorineural deafness, and renal disease 10.7
14 chromosome 5q deletion syndrome 10.7
15 chromosome 9p deletion syndrome 10.7
16 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.7
17 chromosome 1p36 deletion syndrome 10.7
18 autism 10.6
19 autism spectrum disorder 10.5
20 neurofibromatosis, type ii 10.2
21 down syndrome 10.2
22 fragile x syndrome 10.2
23 alacrima, achalasia, and mental retardation syndrome 10.2
24 bipolar disorder 10.2
25 chromosomal disease 10.2
26 hypogonadism 10.2
27 atypical teratoid rhabdoid tumor 10.2
28 rhabdoid cancer 10.2
29 neuronitis 10.2
30 ring chromosome 22 10.2
31 tracheobronchial stenosis, congenital 9.9
32 acute liver failure 9.9
33 hepatitis 9.9
34 tracheal stenosis 9.9
35 congenital tracheal stenosis 9.9
36 metachromatic leukodystrophy 9.8
37 spermatogenic failure, y-linked, 2 9.7 DAZ1 RBMY1A1 USP9Y
38 jacobsen syndrome 9.7
39 prostate cancer 9.7
40 retinoblastoma 9.7
41 williams-beuren syndrome 9.7
42 choroideremia 9.7
43 norrie disease 9.7
44 prostatitis 9.7
45 chromosome 4p deletion 9.7
46 schizophrenia 9.6
47 retinitis pigmentosa 9.6
48 leber congenital amaurosis 4 9.6
49 chronic granulomatous disease 9.6
50 microphthalmia 9.6

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:

57
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
asymmetric face
small chin
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

Human phenotypes related to Phelan-Mcdermid Syndrome:

59 32 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
3 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
4 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
5 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
6 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 seizures 59 32 frequent (33%) Occasional (29-5%) HP:0001250
8 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
9 hearing impairment 59 32 very rare (1%) Occasional (29-5%) HP:0000365
10 macrotia 59 32 frequent (33%) Very frequent (99-80%) HP:0000400
11 dental malocclusion 59 32 frequent (33%) Occasional (29-5%) HP:0000689
12 global developmental delay 59 32 very rare (1%) Occasional (29-5%) HP:0001263
13 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
14 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
15 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
16 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
17 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
18 gastroesophageal reflux 59 32 frequent (33%) Occasional (29-5%) HP:0002020
19 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
20 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
21 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
22 strabismus 59 32 frequent (33%) Occasional (29-5%) HP:0000486
23 epicanthus 59 32 frequent (33%) Occasional (29-5%) HP:0000286
24 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
25 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
26 lymphedema 59 32 frequent (33%) Occasional (29-5%) HP:0001004
27 hypoplastic toenails 59 32 frequent (33%) Very frequent (99-80%) HP:0001800
28 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
29 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
30 clinodactyly of the 5th finger 59 32 frequent (33%) Occasional (29-5%) HP:0004209
31 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
32 impaired pain sensation 59 32 frequent (33%) Very frequent (99-80%) HP:0007328
33 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
34 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
35 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
36 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
37 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
38 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
39 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
40 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
41 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
42 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
43 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
44 arachnoid cyst 59 32 very rare (1%) Occasional (29-5%) HP:0100702
45 renal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000110
46 hypermetropia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000540
47 cerebellar cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008278
48 bruxism 59 32 frequent (33%) Very frequent (99-80%) HP:0003763
49 hair-pulling 59 32 occasional (7.5%) Occasional (29-5%) HP:0012167
50 recurrent pyelonephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012787

UMLS symptoms related to Phelan-Mcdermid Syndrome:


reflex, abnormal, seizures

MGI Mouse Phenotypes related to Phelan-Mcdermid Syndrome:

46
# 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 23994
2
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
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 AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy Recruiting NCT03493607 Phase 2 AMO-01
4 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
5 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Recruiting NCT03426059
6 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Active, not recruiting NCT02461420

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 29 SHANK3

Anatomical Context for Phelan-Mcdermid Syndrome

MalaCards organs/tissues related to Phelan-Mcdermid Syndrome:

41
Eye, Kidney, Brain, Skin, Tongue, Testes

Publications for Phelan-Mcdermid Syndrome

Articles related to Phelan-Mcdermid Syndrome:

(show top 50) (show all 53)
# Title Authors Year
1
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). ( 29378768 )
2018
2
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <i>SHANK3</i> point mutations. ( 29719671 )
2018
3
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. ( 29358616 )
2018
4
Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. ( 29210508 )
2018
5
Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome. ( 29428507 )
2018
6
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. ( 29402632 )
2018
7
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. ( 29377611 )
2018
8
Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome. ( 29875651 )
2018
9
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports. ( 28862395 )
2017
10
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning. ( 28364490 )
2017
11
Phelan-McDermid syndrome due to<i>SHANK3</i>mutation in an intellectually disabled adult male: successful treatment with lithium. ( 28963116 )
2017
12
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
13
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. ( 28255759 )
2017
14
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). ( 28346892 )
2017
15
A framework to identify contributing genes in patients with Phelan-McDermid syndrome. ( 29263841 )
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
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. ( 29061681 )
2017
18
Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons. ( 28428614 )
2017
19
Phelan-McDermid Syndrome. ( 28320496 )
2017
20
Sleep Disturbances in Individuals with Phelan-McDermid Syndrome: Correlation with Caregivers' Sleep Quality and Daytime Functioning. ( 27923425 )
2016
21
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
22
Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan-McDermid Syndrome and autism. ( 27189882 )
2016
23
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms. ( 28018439 )
2016
24
Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome. ( 26914612 )
2016
25
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. ( 26909118 )
2016
26
Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. ( 26824576 )
2016
27
Justice in Selecting Participants for a Study in Phelan-McDermid Syndrome. ( 26982937 )
2016
28
Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial. ( 27577546 )
2016
29
Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome. ( 26822410 )
2016
30
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome. ( 27741506 )
2016
31
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder. ( 28289594 )
2016
32
Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. ( 26034557 )
2015
33
Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. ( 25894671 )
2015
34
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. ( 26350728 )
2015
35
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. ( 26306707 )
2015
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
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. ( 25685306 )
2014
39
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
40
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. ( 25784960 )
2014
41
Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism? ( 24078047 )
2013
42
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
43
Phelan-McDermid syndrome: clinical report of a 70-year-old woman. ( 23166010 )
2013
44
Adult-onset psychosis and clinical genetics: a case of Phelan-McDermid syndrome. ( 24247879 )
2013
45
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. ( 24136618 )
2013
46
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). ( 22670140 )
2012
47
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? ( 22570549 )
2012
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
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. ( 21779178 )
2011

Variations for Phelan-Mcdermid Syndrome

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

75
# 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 22)
# 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.3883delG (p.Glu1295Argfs) deletion Pathogenic GRCh38 Chromosome 22, 50721716: 50721716
3 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 GRCh37 Chromosome 22, 51117094: 51117094
4 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 GRCh38 Chromosome 22, 50678666: 50678666
5 SHANK3 NM_033517.1(SHANK3): c.317A> C (p.Gln106Pro) single nucleotide variant Uncertain significance rs794729646 GRCh37 Chromosome 22, 51115099: 51115099
6 SHANK3 NM_033517.1(SHANK3): c.317A> C (p.Gln106Pro) single nucleotide variant Uncertain significance rs794729646 GRCh38 Chromosome 22, 50676671: 50676671
7 SHANK3 NM_033517.1(SHANK3): c.815A> G (p.Tyr272Cys) single nucleotide variant Uncertain significance rs794729647 GRCh38 Chromosome 22, 50679358: 50679358
8 SHANK3 NM_033517.1(SHANK3): c.815A> G (p.Tyr272Cys) single nucleotide variant Uncertain significance rs794729647 GRCh37 Chromosome 22, 51117786: 51117786
9 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs797044936 GRCh37 Chromosome 22, 51159940: 51159940
10 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs797044936 GRCh38 Chromosome 22, 50721512: 50721512
11 SHANK3 NM_033517.1(SHANK3): c.1010C> G (p.Thr337Ser) single nucleotide variant Uncertain significance rs869312715 GRCh37 Chromosome 22, 51123059: 51123059
12 SHANK3 NM_033517.1(SHANK3): c.1010C> G (p.Thr337Ser) single nucleotide variant Uncertain significance rs869312715 GRCh38 Chromosome 22, 50684631: 50684631
13 SHANK3 NM_033517.1(SHANK3): c.4029_4030delTG (p.Ser1343Argfs) deletion Pathogenic rs1057519395 GRCh38 Chromosome 22, 50721862: 50721863
14 SHANK3 NM_033517.1(SHANK3): c.4029_4030delTG (p.Ser1343Argfs) deletion Pathogenic rs1057519395 GRCh37 Chromosome 22, 51160290: 51160291
15 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 GRCh37 Chromosome 22, 51123079: 51123079
16 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 GRCh38 Chromosome 22, 50684651: 50684651
17 SHANK3 NM_033517.1(SHANK3): c.3679delG (p.Ala1227Profs) deletion Pathogenic rs762292772 GRCh37 Chromosome 22, 51159940: 51159940
18 SHANK3 NM_033517.1(SHANK3): c.3679delG (p.Ala1227Profs) deletion Pathogenic rs762292772 GRCh38 Chromosome 22, 50721512: 50721512
19 SHANK3 NM_033517.1(SHANK3): c.4611delCinsCC (p.Ser1538Glnfs) indel Likely pathogenic GRCh37 Chromosome 22, 51169155: 51169155
20 SHANK3 NM_033517.1(SHANK3): c.4611delCinsCC (p.Ser1538Glnfs) indel Likely pathogenic GRCh38 Chromosome 22, 50730727: 50730727
21 SHANK3 NM_033517.1(SHANK3): c.3627C> T (p.Leu1209=) single nucleotide variant Uncertain significance rs753765611 GRCh37 Chromosome 22, 51159888: 51159888
22 SHANK3 NM_033517.1(SHANK3): c.3627C> T (p.Leu1209=) single nucleotide variant Uncertain significance rs753765611 GRCh38 Chromosome 22, 50721460: 50721460

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:

37
# Name Kegg Source Accession
1 Glutamatergic synapse hsa04724

GO Terms for Phelan-Mcdermid Syndrome

Cellular components related to Phelan-Mcdermid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.28 APPL2 CLN3 DAZ1 DAZL MNX1 MYCN

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
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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