PQBP1 gene related symptoms and diseases

All the information presented here about the PQBP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, 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 PQBP1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Atrial septal defect	Common - Between 50% and 80% cases
Seizures	Uncommon - Between 30% and 50% cases
Short stature	Uncommon - Between 30% and 50% cases
Microcephaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PQBP1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Cupped ear
Narrow mouth
Spastic diplegia
Malar flattening
Protruding ear
Wide nasal bridge
Narrow face
Upslanted palpebral fissure

And 104 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PQBP1 gene

Here you will find a list of rare diseases related to the PQBP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

RENPENNING SYNDROME 1; RENS1

Alternate names

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3, mental retardation, x-linked, syndromic 3, shs, mental retardation, x-linked, renpenning type, golabi-ito-hall syndrome, mental retardation, x-linked 55, mental retardation, x-linked, syndromic 8, mrxs8, mrx55, mental retardation, x-linked, with spastic dip

Description

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

Most common symptoms of RENPENNING SYNDROME 1; RENS1

Intellectual disability
Seizures
Global developmental delay
Short stature
Hearing impairment

More info about RENPENNING SYNDROME 1; RENS1

SOURCES: ORPHANET OMIM

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
Autism

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

SOURCES: MESH OMIM

X-LINKED INTELLECTUAL DISABILITY, PORTEOUS TYPE

More info about X-LINKED INTELLECTUAL DISABILITY, PORTEOUS TYPE

SOURCES: ORPHANET

HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Description

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Most common symptoms of HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Intellectual disability
Global developmental delay
Short stature
Microcephaly
Micrognathia

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

SOURCES: ORPHANET

X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Description

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Intellectual disability
Seizures
Short stature
Microcephaly
Growth delay

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

SOURCES: ORPHANET

X-LINKED INTELLECTUAL DISABILITY, SUTHERLAND-HAAN TYPE

More info about X-LINKED INTELLECTUAL DISABILITY, SUTHERLAND-HAAN TYPE

SOURCES: ORPHANET

Search interest in PQBP1

Potential gene panels for PQBP1 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

PQBP1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PQBP1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to PQBP1 gene

RENPENNING SYNDROME 1; RENS1

Alternate names

Description

Most common symptoms of RENPENNING SYNDROME 1; RENS1

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

X-LINKED INTELLECTUAL DISABILITY, PORTEOUS TYPE

HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Description

Most common symptoms of HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

X-LINKED INTELLECTUAL DISABILITY, SUTHERLAND-HAAN TYPE

Search interest in PQBP1

Potential gene panels for PQBP1 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

Hereditary Spastic Paraplegia Panel Panel

Renpenning syndrome 1 Panel

Comprehensive Brain Malformation Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Microcephaly Sequencing Panel Panel

Microcephaly Deletion/Duplication Panel Panel

Comprehensive Brain Malformations Panel Panel

Cortical Brain Malformations Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

PQBP1 gene sequence and deletion/duplication Panel

IDNext Panel

Renpenning syndrome (sequence analysis of PQBP1 gene) Panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Renpenning syndrome (deletion/duplication analysis of PQBP1 gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Renpenning Syndrome via PQBP1 Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

AllNeuro panel Panel

Renpenning syndrome Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Single gene testing PQBP1 Panel

Brain malformations Panel

Autism Spectrum Disorders Panel

qCarrier Plus Panel

Invitae Renpenning Syndrome Test Panel

Renpenning, Syndrome: PQBP1 gene sequence analysis Panel

Mental retardation, X-linked, non-syndromic Panel

Renpenning Syndrome 1: PQBP1 Full Gene Sequencing Panel

Renpenning Syndrome 1: PQBP1 Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Brain Malformations: Sequencing Panel Panel

Neurology: Sequencing Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Brain Malformations: Deletion/Duplication Panel Panel