NFIA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NFIA gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Hydrocephalus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NFIA gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cognitive impairment
  • Broad forehead
  • Macrocephaly
  • Not very common - Between 30% and 50% cases

  • Syringomyelia
  • Metopic synostosis
  • Broad face
  • Arachnoid cyst
  • Narrow nose

And 71 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NFIA gene

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


1P31P32 MICRODELETION SYNDROME


Alternate names

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32, del(1)(p31p32)

Description

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

Most common symptoms of 1P31P32 MICRODELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


More info about 1P31P32 MICRODELETION SYNDROME

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


Potential gene panels for NFIA gene

Macrocephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

More info about this panel

Macrocephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

More info about this panel

NFIA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NFIA gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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