22q13.33 Copy Number Variation

Description

A deletion, or a point mutation of the SHANK3 gene causes Phelan-McDermid syndrome, while the duplications are more rare.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:48652 Deletion syndrome

OMIM: 606232

Prevalence: Unknown

Definition:

A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Macrotia Delayed speech and language development Neonatal hypotonia Hypoplastic toenails Bruxism Accelerated skeletal maturation Impaired pain sensation	Dolichocephaly Malar flattening Full cheeks Pointed chin Bulbous nose Wide nasal bridge Deeply set eye Ptosis Long eyelashes Thick eyebrow Autistic behavior Hyperactivity Sacral dimple Hypohidrosis Large hands Sleep abnormality Immunodeficiency Feeding difficulties Palpebral edema	Vesicoureteral reflux Renal dysplasia Hydronephrosis Macrocephaly Epicanthus Hearing impairment Strabismus Hypermetropia Dental crowding Dental malocclusion Lymphedema Intellectual disability Seizure Global developmental delay Agenesis of corpus callosum Obesity Umbilical hernia Recurrent skin infections Nausea and vomiting Gastroesophageal reflux Clinodactyly of the 5th finger Cerebellar cortical atrophy Hair-pulling Recurrent pyelonephritis Arachnoid cyst	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
SHANK3	SH3 and multiple ankyrin repeat domains 3	85358	ENSG00000251322	Q9BYB0

Evidence

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