IL1RAPL1 gene related symptoms and diseases

All the information presented here about the IL1RAPL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, 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 IL1RAPL1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Autistic behavior	Very Common - Between 80% and 100% cases
Autism	Common - Between 50% and 80% cases
Macrotia	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with IL1RAPL1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Strabismus
Generalized hypotonia
Not very common - Between 30% and 50% cases
Impaired use of nonverbal behaviors
Aggressive behavior
Maxillary lateral incisor microdontia
Lack of spontaneous play
Global developmental delay
Microcephaly

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IL1RAPL1 gene

Here you will find a list of rare diseases related to the IL1RAPL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MENTAL RETARDATION, X-LINKED 21; MRX21

Alternate names

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34, mrx34

Description

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

Most common symptoms of MENTAL RETARDATION, X-LINKED 21; MRX21

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Hypertelorism

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

SOURCES: OMIM

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

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

Search interest in IL1RAPL1

Potential gene panels for IL1RAPL1 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

IL1RAPL1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to IL1RAPL1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to IL1RAPL1 gene

MENTAL RETARDATION, X-LINKED 21; MRX21

Alternate names

Description

Most common symptoms of MENTAL RETARDATION, X-LINKED 21; MRX21

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

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

Search interest in IL1RAPL1

Potential gene panels for IL1RAPL1 gene

NGS XLID Panel Panel

X-Linked Mental Retardation Types 21/34 (IL1RAPL1) 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

Mental retardation, X-linked type 21 (sequence analysis of IL1RAPL1 gene) Panel

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

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

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

X-linked Intellectual Disability via IL1RAPL1 Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) 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

Mental retardation, X-linked type 21 Panel

AllNeuro panel Panel

Single gene testing IL1RAPL1 Panel

qChip Panel

qCarrier Plus Panel

Mental retardation, X-linked, non-syndromic Panel

XLMR 21: IL1RAPL1 Full Gene Sequencing Panel

XLMR 21: IL1RAPL1 Gene Deletion/Duplication Panel

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

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

IL1RAPL1 Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Rapid microarray (CGH and SNP) Panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel