PAFAH1B1 gene related symptoms and diseases

All the information presented here about the PAFAH1B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,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 PAFAH1B1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases
Lissencephaly	Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum	Common - Between 50% and 80% cases
Ventriculomegaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PAFAH1B1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Seizures
Pachygyria
Heterotopia
High forehead
Global developmental delay
Clinodactyly of the 5th finger
Inguinal hernia
Short nose

And 202 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PAFAH1B1 gene

Here you will find a list of rare diseases related to the PAFAH1B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

17P13.3 MICRODUPLICATION SYNDROME

Alternate names

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome, dup(17)(p13.3), trisomy 17p13.3

Description

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Most common symptoms of 17P13.3 MICRODUPLICATION SYNDROME

Intellectual disability
Global developmental delay
Generalized hypotonia
Microcephaly
Growth delay

More info about 17P13.3 MICRODUPLICATION SYNDROME

SOURCES: MESH OMIM ORPHANET

MILLER-DIEKER SYNDROME

Alternate names

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3, lissencephaly due to 17p13.3 deletion, mds, telomeric deletion 17p

Description

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

Most common symptoms of MILLER-DIEKER SYNDROME

Intellectual disability
Seizures
Microcephaly
Ataxia
Growth delay

More info about MILLER-DIEKER SYNDROME

SOURCES: ORPHANET OMIM

SMITH-MAGENIS SYNDROME; SMS

Alternate names

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Most common symptoms of SMITH-MAGENIS SYNDROME; SMS

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about SMITH-MAGENIS SYNDROME; SMS

SOURCES: OMIM

SUBCORTICAL BAND HETEROTOPIA

Alternate names

SUBCORTICAL BAND HETEROTOPIA Is also known as subcortical laminar heterotopia

More info about SUBCORTICAL BAND HETEROTOPIA

SOURCES: ORPHANET

LISSENCEPHALY DUE TO LIS1 MUTATION

Alternate names

LISSENCEPHALY DUE TO LIS1 MUTATION Is also known as pafah1b1-related lissencephaly

Description

Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.

More info about LISSENCEPHALY DUE TO LIS1 MUTATION

SOURCES: ORPHANET

LISSENCEPHALY 1; LIS1

Alternate names

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic, ils, lissencephaly sequence, isolated

Description

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

Most common symptoms of LISSENCEPHALY 1; LIS1

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about LISSENCEPHALY 1; LIS1

SOURCES: ORPHANET OMIM

Search interest in PAFAH1B1

Potential gene panels for PAFAH1B1 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

PAFAH1B1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PAFAH1B1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to PAFAH1B1 gene

17P13.3 MICRODUPLICATION SYNDROME

Alternate names

Description

Most common symptoms of 17P13.3 MICRODUPLICATION SYNDROME

MILLER-DIEKER SYNDROME

Alternate names

Description

Most common symptoms of MILLER-DIEKER SYNDROME

SMITH-MAGENIS SYNDROME; SMS

Alternate names

Most common symptoms of SMITH-MAGENIS SYNDROME; SMS

SUBCORTICAL BAND HETEROTOPIA

Alternate names

LISSENCEPHALY DUE TO LIS1 MUTATION

Alternate names

Description

LISSENCEPHALY 1; LIS1

Alternate names

Description

Most common symptoms of LISSENCEPHALY 1; LIS1

Search interest in PAFAH1B1

Potential gene panels for PAFAH1B1 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Syndromic Autism Panel Panel

NGS Epilepsy/Seizure Panel Panel

Comprehensive Brain Malformation Panel Panel

Epilepsy/Seizure Panel

Cerebral Cortical Deletion/Duplication Panel Panel

Cerebral Cortical Malformation Sequencing Panel Panel

LIS1 sequencing Panel

Lissencephaly Sequencing Panel Panel

LIS1 deletion/duplication analysis Panel

Classic Lissencephaly Panel Panel

Comprehensive Lissencephaly Panel Panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

Miller-Dieker syndrome Panel

LIS1 Panel

Comprehensive Brain Malformations Panel Panel

Cortical Brain Malformations Panel Panel

Lissencephaly Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

PAFAH1B1. Complete sequencing Panel

PAFAH1B1. MLPA testing Panel

Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene) Panel

Lissencephaly 1 (deletion/duplication analysis of PAFAH1B1 gene) Panel

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

Lissencephaly (NGS panel for 12 genes) Panel

Lissencephaly 1 and Subcortical Band Heteropia via PAFAH1B1 Gene Sequencing with CNV Detection Panel

Lissencephaly and related disorders NGS test Panel

Lissencephaly and related disorders Deletion / Duplication test Panel

Lissencephaly and related disorders Comprehensive test Panel

Lissencephaly core Deletion / Duplication test Panel

Lissencephaly core Comprehensive test Panel

Lissencephaly core NGS test Panel

Mental retardation - different panels Panel

Lissencephaly Panel

Brain Malformations / Neuronal Migration Disorders Panel

Microcephaly panel Panel

Lissencephaly panel Panel

Lissencephaly type 1 Panel

AllNeuro panel Panel

Neuronal Migration Disorders Panel Panel

Neuronal Migration Disorders Panel Panel

Single gene testing PAFAH1B1 Panel

Test for LIS1-Associated Lissencephaly/Subcortical Band Heterotopia Panel

Microcephaly Panel

Brain malformations Panel

Lissencephaly 1 Panel

LIS1 Gene Sequencing Panel

qChip Panel

Lissencephaly 1 Panel

Lissencephaly: PAFAH1B1 (LIS1) gene sequence analysis Panel

Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA) Panel

LISSENCEPHALY Panel