PHMDS
MCID: PHL006
MIFTS: 51

Phelan-Mcdermid Syndrome (PHMDS)

Categories: 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 57 12 24 53 25 59 74 37 13 15 40
22q13.3 Deletion Syndrome 12 24 53 25 29 6 72
Chromosome 22q13.3 Deletion Syndrome 57 24 53 74
Telomeric 22q13 Monosomy Syndrome 57 74 72
Monosomy 22q13 53 25 59
Deletion 22q13.3 Syndrome 53 25
Deletion 22q13 Syndrome 24 25
Chromosome Deletion 44 72
22q13 Deletion 53 59
Phmds 57 74
Monosomy 22q13 Syndrome 12
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 autosomal dominant 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:



External Ids:

Disease Ontology 12 DOID:0080354
OMIM 57 606232
KEGG 37 H01238
MeSH 44 D002872
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C1853490
Orphanet 59 ORPHA48652
UMLS 72 C0008628 C1853490 C4048800

Summaries for Phelan-Mcdermid Syndrome

NIH Rare Diseases : 53 22q13.3 deletion syndrome, 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 pervasive developmental disorder, 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 Celiprolol and Sympathomimetics have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, 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 : 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. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures. Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.

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)

KEGG : 37
Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.

UniProtKB/Swiss-Prot : 74 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 : 75 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 331)
# Related Disease Score Top Affiliating Genes
1 partial deletion of y 31.8 USP9Y RBMY1A1 DAZ1
2 pervasive developmental disorder 29.9 UBE3A SHANK3
3 male infertility 29.6 USP9Y RBMY1A1 DAZ1
4 azoospermia 29.3 USP9Y RBMY1A1 DAZ1 AZF1
5 spermatogenic failure, x-linked, 1 29.2 USP9Y RBMY1A1 DAZ1
6 spermatogenic failure, y-linked, 2 29.1 USP9Y RBMY1A1 DAZ1
7 cryptorchidism, unilateral or bilateral 28.9 DAZ1 AZF1
8 y chromosome infertility 11.6
9 wolf-hirschhorn syndrome 11.5
10 ichthyosis, x-linked 11.3
11 cri-du-chat syndrome 11.3
12 trichorhinophalangeal syndrome, type ii 11.3
13 thrombocytopenia, paris-trousseau type 11.3
14 chromosome 15q13.3 deletion syndrome 11.3
15 malignant pleural mesothelioma 11.3
16 otodental dysplasia 11.1
17 autism spectrum disorder 11.1
18 alacrima, achalasia, and mental retardation syndrome 11.0
19 hypotonia 11.0
20 hypoparathyroidism, sensorineural deafness, and renal disease 11.0
21 chromosome 5q deletion syndrome 11.0
22 chromosome 9p deletion syndrome 11.0
23 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.0
24 chromosome 1p36 deletion syndrome 11.0
25 chromosome 10q26 deletion syndrome 11.0
26 chromosome 14q11-q22 deletion syndrome 11.0
27 chromosome 13q14 deletion syndrome 11.0
28 chromosome 15q25 deletion syndrome 11.0
29 chromosome 15q11.2 deletion syndrome 11.0
30 chromosome 15q24 deletion syndrome 11.0
31 autism 10.9
32 lymphedema 10.7
33 neurofibromatosis, type iv, of riccardi 10.5
34 persistent mullerian duct syndrome, types i and ii 10.5
35 fragile x syndrome 10.5
36 major affective disorder 8 10.5
37 major affective disorder 9 10.5
38 persistent mullerian duct syndrome 10.5
39 bipolar disorder 10.5
40 ring chromosome 22 10.5
41 ring chromosome 10.5
42 angelman syndrome 10.4
43 down syndrome 10.4
44 velocardiofacial syndrome 10.4
45 opitz-kaveggia syndrome 10.4
46 premature ovarian failure 1 10.4
47 rhabdoid tumor predisposition syndrome 1 10.4
48 trichotillomania 10.4
49 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
50 exanthem 10.4

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:

59 32 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 59 32 frequent (33%) Very frequent (99-80%) HP:0000400
2 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
3 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
4 hypoplastic toenails 59 32 frequent (33%) Very frequent (99-80%) HP:0001800
5 impaired pain sensation 59 32 frequent (33%) Very frequent (99-80%) HP:0007328
6 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
7 bruxism 59 32 frequent (33%) Very frequent (99-80%) HP:0003763
8 tall stature 32 hallmark (90%) HP:0000098
9 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
10 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
11 seizures 59 32 frequent (33%) Occasional (29-5%) HP:0001250
12 dental malocclusion 59 32 frequent (33%) Occasional (29-5%) HP:0000689
13 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
14 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
15 gastroesophageal reflux 59 32 frequent (33%) Occasional (29-5%) HP:0002020
16 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
17 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
18 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
19 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
20 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
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 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
25 lymphedema 59 32 frequent (33%) Occasional (29-5%) HP:0001004
26 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
27 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
28 clinodactyly of the 5th finger 59 32 frequent (33%) Occasional (29-5%) HP:0004209
29 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
30 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
31 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
32 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
33 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
34 high palate 32 frequent (33%) HP:0000218
35 long philtrum 32 frequent (33%) HP:0000343
36 autism 32 frequent (33%) HP:0000717
37 poor eye contact 32 frequent (33%) HP:0000817
38 2-3 toe syndactyly 32 frequent (33%) HP:0004691
39 unsteady gait 32 frequent (33%) HP:0002317
40 episodic vomiting 32 frequent (33%) HP:0002572
41 broad-based gait 32 frequent (33%) HP:0002136
42 heat intolerance 32 frequent (33%) HP:0002046
43 hyperorality 32 frequent (33%) HP:0000710
44 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
45 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
46 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
47 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
48 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
49 hearing impairment 59 32 very rare (1%) Occasional (29-5%) HP:0000365
50 global developmental delay 59 32 very rare (1%) Occasional (29-5%) HP:0001263

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
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 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Sympathomimetics Phase 4
3 Antihypertensive Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Adrenergic beta-1 Receptor Antagonists Phase 4
6 Adrenergic beta-Antagonists Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Adrenergic Antagonists Phase 4
9 Adrenergic Agents Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Vasodilator Agents Phase 4
12 Autonomic Agents Phase 4
13
Sulfamethoxazole Approved Phase 2 723-46-6 5329
14
Mecasermin Approved, Investigational Phase 2 68562-41-4
15
Zinc Approved, Investigational Phase 2 7440-66-6 32051
16
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
17
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
18
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
21
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
22 Anti-Infective Agents Phase 2
23 Pharmaceutical Solutions Phase 2
24 insulin Phase 2
25 Insulin, Globin Zinc Phase 2
26 Mitogens Phase 2
27 Hypoglycemic Agents Phase 2
28 Hormone Antagonists Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
30 Oxytocics Phase 2
31 Hormones Phase 2
32 Micronutrients Phase 2
33 Trace Elements Phase 2
34 Dihydroxycholecalciferols Phase 2
35 Vitamins Phase 2
36 Nutrients Phase 2
37 Keratolytic Agents Phase 2
38 Dermatologic Agents Phase 2
39 Vasoconstrictor Agents Phase 2
40 Calciferol Phase 2
41 Calcium, Dietary Phase 2
42 Bone Density Conservation Agents Phase 2
43
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
44 Antioxidants Phase 1
45 Central Nervous System Depressants Phase 1
46 Protective Agents Phase 1
47 Anesthetics
48 Hemostatics

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
2 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
3 A Double-Blind Placebo-Controlled Crossover Trial of Insulin-Like Growth Factor-1 (IGF-1) in Children and Adolescents With 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Recruiting NCT01525901 Phase 2 Insulin-Like Growth Factor-1 (IGF-1);Normal saline
4 An Open Label Trial of Growth Hormone in Children and Adolescents With Phelan-McDermid Syndrome Targeting Social Withdrawal Recruiting NCT04003207 Phase 2 Recombinant human Growth hormone
5 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Recruiting NCT02710084 Phase 2 Oxytocin;Saline
6 An Open-label Study to Investigate the Safety, Tolerability and Efficacy of a Single 6-hour Intravenous Infusion of AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy Recruiting NCT03493607 Phase 2 AMO-01
7 A Pilot Treatment Study of Insulin-Like Growth Factor-1 (IGF-1) in Autism Spectrum Disorder Recruiting NCT01970345 Phase 2 IGF-1;Placebo/saline
8 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
9 A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
10 PREPL in Health and Disease Unknown status NCT02263781
11 Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Completed NCT02000167
12 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
13 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome Completed NCT01314560
14 Mapping the Phenotype in Adults With Phelan-McDermid Syndrome Recruiting NCT03426059
15 Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome Recruiting NCT02447861
16 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
17 Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Active, not recruiting NCT02461420
18 Impact of Y-chromosome Microdeletions From Infertile Men on the Chromosomal Constitution of Their Spermatozoa and Embryos. Combined IntraCytoplasmatic Sperm Injection (ICSI) and Preimplantation Genetic Screening (PGS) as Treatment Strategy. Terminated NCT02527954

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, Brain, Kidney, Testes, Skin, Bone, Tongue

Publications for Phelan-Mcdermid Syndrome

Articles related to Phelan-Mcdermid Syndrome:

(show top 50) (show all 218)
# Title Authors PMID Year
1
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 4 8 71
22892527 2013
2
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 4 8 71
17173049 2007
3
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. 38 4 8
24136618 2014
4
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). 38 4 8
21984749 2011
5
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome. 38 4 8
20635403 2010
6
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. 38 4 8
20186804 2010
7
Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. 38 4 8
19334084 2009
8
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 38 4 8
16284256 2006
9
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. 38 4 8
11431708 2001
10
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. 38 4 8
8981954 1997
11
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association. 4 8
18478261 2009
12
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. 4 8
18523453 2008
13
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome. 4 8
15930901 2005
14
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. 4 8
12960216 2003
15
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. 4 8
12920066 2003
16
FISH-mapping of a 100-kb terminal 22q13 deletion. 4 8
12073014 2002
17
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. 38 8
24700646 2014
18
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 38 8
24132240 2013
19
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. 38 8
23758760 2013
20
Phelan-McDermid Syndrome 38 71
20301377 2005
21
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. 38 4
29358616 2018
22
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. 38 4
28754298 2017
23
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. 38 4
29061681 2017
24
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). 38 4
28346892 2017
25
A framework to identify contributing genes in patients with Phelan-McDermid syndrome. 38 4
29263841 2017
26
Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. 38 4
27118998 2016
27
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. 38 4
26306707 2015
28
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports. 38 4
25947967 2015
29
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. 38 4
24481935 2014
30
The emerging role of SHANK genes in neuropsychiatric disorders. 38 4
24124131 2014
31
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. 38 4
25685306 2014
32
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. 38 4
25784960 2014
33
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. 38 4
23225497 2013
34
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). 38 4
22670140 2012
35
Growth in Phelan-McDermid syndrome. 38 4
21834045 2011
36
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 38 4
21779178 2011
37
Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities. 71
21062623 2011
38
Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2. 38 4
21048139 2010
39
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. 38 4
18854866 2009
40
Population analysis of large copy number variants and hotspots of human genetic disease. 8
19166990 2009
41
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. 38 4
18625665 2008
42
Contribution of SHANK3 mutations to autism spectrum disorder. 8
17999366 2007
43
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. 38 4
17926345 2007
44
Further delineation of the 22q13 deletion syndrome. 8
15770125 2005
45
22q13 deletion syndrome. 8
11391650 2001
46
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. 8
10735630 2000
47
Two 22q telomere deletions serendipitously detected by FISH. 8
9832042 1998
48
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. 8
7719339 1995
49
Timing, rates and spectra of human germline mutation. 4
26656846 2016
50
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 4
25188300 2014

Variations for Phelan-Mcdermid Syndrome

ClinVar genetic disease variations for Phelan-Mcdermid Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SHANK3 NM_033517.1(SHANK3): c.4029_4030del (p.Ser1343fs) deletion Pathogenic rs1057519395 22:51160290-51160291 22:50721862-50721863
2 SHANK3 NM_033517.1(SHANK3): c.3637dup (p.His1213fs) duplication Pathogenic rs1555910162 22:51159898-51159898 22:50721470-50721470
3 SHANK3 NM_033517.1(SHANK3): c.3679del (p.Ala1227fs) deletion Pathogenic rs762292772 22:51159940-51159940 22:50721512-50721512
4 SHANK3 NM_033517.1(SHANK3): c.3883delG (p.Glu1295Argfs) deletion Pathogenic rs1555910212 22:51160144-51160144 22:50721716-50721716
5 SHANK3 NM_033517.1(SHANK3): c.421C> G (p.Pro141Ala) single nucleotide variant Pathogenic rs397514705 22:51117094-51117094 22:50678666-50678666
6 SHANK3 NM_033517.1(SHANK3): c.3623del (p.Gly1208fs) deletion Pathogenic 22:51159884-51159884 22:50721456-50721456
7 SHANK3 GRCh37/hg19 22q13.33(chr22: 51123491-51144365) copy number loss Pathogenic 22:51123491-51144365 :0-0
8 subset of 36 genes:SHANK3 GRCh37/hg19 22q13.32-13.33(chr22: 48533991-51178264) copy number loss Pathogenic 22:48533991-51178264 :0-0
9 subset of 94 genes:SHANK3 ; TCF20 GRCh37/hg19 22q13.2-13.33(chr22: 42416026-51181759) copy number loss Pathogenic 22:42416026-51181759 :0-0
10 SHANK3 GRCh37/hg19 22q13.33(chr22: 51132804-51144365) copy number loss Pathogenic 22:51132804-51144365 :0-0
11 SHANK3 NM_033517.1(SHANK3): c.3679dup (p.Ala1227fs) duplication Pathogenic rs762292772 22:51159940-51159940 22:50721512-50721512
12 SHANK3 NM_033517.1(SHANK3): c.1030G> T (p.Val344Leu) single nucleotide variant Likely pathogenic rs1057519406 22:51123079-51123079 22:50684651-50684651
13 SHANK3 NM_033517.1(SHANK3): c.3627C> T (p.Leu1209=) single nucleotide variant Uncertain significance rs753765611 22:51159888-51159888 22:50721460-50721460
14 SHANK3 NM_033517.1(SHANK3): c.815A> G (p.Tyr272Cys) single nucleotide variant Uncertain significance rs1555905749 22:51117786-51117786 22:50679358-50679358
15 SHANK3 NM_033517.1(SHANK3): c.317A> C (p.Gln106Pro) single nucleotide variant Uncertain significance rs1555905307 22:51115099-51115099 22:50676671-50676671
16 SHANK3 NM_033517.1(SHANK3): c.1010C> G (p.Thr337Ser) single nucleotide variant Uncertain significance rs869312715 22:51123059-51123059 22:50684631-50684631
17 SHANK3 NM_033517.1(SHANK3): c.2908G> T (p.Ala970Ser) single nucleotide variant Uncertain significance rs530255181 22:51159169-51159169 22:50720741-50720741
18 SHANK3 NM_033517.1(SHANK3): c.1303-280dup duplication Likely benign rs745950788 22:51135705-51135705 22:50697277-50697277

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

74
# Symbol AA change Variation ID SNP ID
1 SHANK3 p.Pro141Ala VAR_070259 rs397514705
2 SHANK3 p.Ala1452Ser VAR_070270

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

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 8.32 CLN3

Sources for Phelan-Mcdermid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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