NSD1 gene related symptoms and diseases

All the information presented here about the NSD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to NSD1 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Macrocephaly	Uncommon - Between 30% and 50% cases
Global developmental delay	Uncommon - Between 30% and 50% cases
Scoliosis	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NSD1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Macrotia
Dolichocephaly
Tall stature
Accelerated skeletal maturation
Coarse facial features
Mandibular prognathia
Behavioral abnormality
Vesicoureteral reflux

And 191 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NSD1 gene

Here you will find a list of rare diseases related to the NSD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SOTOS SYNDROME

Alternate names

SOTOS SYNDROME Is also known as cerebral gigantism

Description

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Most common symptoms of SOTOS SYNDROME

Intellectual disability
Seizures
Global developmental delay
Scoliosis
Hypertelorism

More info about SOTOS SYNDROME

SOURCES: ORPHANET

WEAVER SYNDROME

Alternate names

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Description

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

Most common symptoms of WEAVER SYNDROME

Intellectual disability
Global developmental delay
Scoliosis
Hypertelorism
Micrognathia

More info about WEAVER SYNDROME

SOURCES: ORPHANET

SOTOS SYNDROME 1; SOTOS1

Alternate names

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome, sotos syndrome, cerebral gigantism

Most common symptoms of SOTOS SYNDROME 1; SOTOS1

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about SOTOS SYNDROME 1; SOTOS1

SOURCES: OMIM

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

Seizures
Neoplasm
Pain
Anemia
Fever

More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Description

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Intellectual disability
Seizures
Global developmental delay
Abnormal facial shape
Cognitive impairment

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

SOURCES: MESH OMIM

DELETION 5Q35

Alternate names

DELETION 5Q35 Is also known as telomeric deletion 5q, distal 5q deletion, del (5)(qter), del (5)(q35), monosomy 5q35

Description

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.

More info about DELETION 5Q35

SOURCES: ORPHANET

5Q35 MICRODUPLICATION SYNDROME

Alternate names

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35), trisomy 5q35

Description

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

Most common symptoms of 5Q35 MICRODUPLICATION SYNDROME

Intellectual disability
Seizures
Short stature
Microcephaly
Growth delay

More info about 5Q35 MICRODUPLICATION SYNDROME

SOURCES: ORPHANET

BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Scoliosis
Ptosis
Epicanthus
Macrotia
Umbilical hernia

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

SOURCES: ORPHANET

Search interest in NSD1

Potential gene panels for NSD1 gene

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

United States.

By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8

NSD1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NSD1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to NSD1 gene

SOTOS SYNDROME

Alternate names

Description

Most common symptoms of SOTOS SYNDROME

WEAVER SYNDROME

Alternate names

Description

Most common symptoms of WEAVER SYNDROME

SOTOS SYNDROME 1; SOTOS1

Alternate names

Most common symptoms of SOTOS SYNDROME 1; SOTOS1

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Description

Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

DELETION 5Q35

Alternate names

Description

5Q35 MICRODUPLICATION SYNDROME

Alternate names

Description

Most common symptoms of 5Q35 MICRODUPLICATION SYNDROME

BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Search interest in NSD1

Potential gene panels for NSD1 gene

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

Syndromic Autism Panel Panel

NGS Overgrowth/Macrocephaly Panel Panel

Sotos Syndrome Panel

Sotos Syndrome (NSD1) Panel

Comprehensive Brain Malformation Panel Panel

Macrocephaly Panel

Sotos syndrome Panel

Macrocephaly Deletion/Duplication Panel Panel

NSD1 sequencing Panel

NSD1 Mutation Analysis Panel

NSD1 deletion/duplication analysis Panel

Macrocephaly Sequencing Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

NSD1. MLPA testing Panel

NSD1. Sequencing of the exon 6 Panel

NSD1. NextGeneDx.Complete sequencing by NGS Panel

NSD1. Complete sequencing Panel

Sotos syndrome (deletion/duplication analysis on NSD1 gene) Panel

Weaver syndrome (sequence analysis of NSD1 gene) Panel

Sotos syndrome (sequence analysis of NSD1 gene) Panel

Macrocephaly (NGS panel for 16 genes) Panel

Weaver syndrome (deletion/duplication analysis of NSD1 gene) Panel

OncoRisk (NGS panel for 48 genes) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Sotos Syndrome via NSD1 Gene Sequencing with CNV Detection Panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Overgrowth syndrome NGS panel Panel

Overgrowth syndrome Comprehensive panel Panel

Overgrowth syndrome Deletion / Duplication panel Panel

Sotos syndrome and related disorders Comprehensive panel Panel

Sotos syndrome and related disorders Deletion/Duplication panel Panel

Sotos syndrome and related disorders NGS panel Panel

Mental retardation - different panels Panel

Macrocephaly Panel

Sotos Syndrome Panel

Mental Retardation and Dysmorphology - panels Panel

Hereditary Cancer Syndromes - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Sotos syndrome Panel

Beckwith-Wiedemann syndrome Panel