MED12 gene related symptoms and diseases

All the information presented here about the MED12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, 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 MED12 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases
Aggressive behavior	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Generalized hypotonia	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MED12 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Behavioral abnormality
Micrognathia
Feeding difficulties
Not very common - Between 30% and 50% cases
Long philtrum
Dilatation
Absent speech
Clinodactyly
Agenesis of corpus callosum

And 186 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MED12 gene

Here you will find a list of rare diseases related to the MED12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FG SYNDROME TYPE 1

Alternate names

FG SYNDROME TYPE 1 Is also known as opitz-kaveggia syndrome

More info about FG SYNDROME TYPE 1

SOURCES: ORPHANET

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1, keller syndrome, fg syndrome, fgs, x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum, fg syndrome 1, micpch

Description

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

SOURCES: OMIM ORPHANET

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Alternate names

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome, mental retardation, x-linked, with marfanoid habitus, lujan-fryns syndrome

Description

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

SOURCES: OMIM ORPHANET

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

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Alternate names

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type, bmrs, maat-kievit-brunner type, blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type, blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, x-linked ohdo syndrome

Most common symptoms of BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Intellectual disability
Global developmental delay
Hearing impairment
Micrognathia
Cryptorchidism

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

SOURCES: ORPHANET OMIM

Search interest in MED12

Potential gene panels for MED12 gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

MED12 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MED12 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 MED12 gene

FG SYNDROME TYPE 1

Alternate names

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

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

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Alternate names

Most common symptoms of BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Search interest in MED12

Potential gene panels for MED12 gene

Syndromic Autism Panel Panel

NGS XLID Panel Panel

NGS Overgrowth/Macrocephaly Panel Panel

FG syndrome Panel

MED12-Related Disorders Panel

Cardiomyopathy Panel Panel

Comprehensive Brain Malformation Panel Panel

Connective Tissue Disorders Panel Panel

Familial Aneurysm and Aortopathy Panel

Macrocephaly Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Macrocephaly Deletion/Duplication Panel Panel

Hypospadias Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Macrocephaly Sequencing Panel Panel

MED12 Panel

Marfan/TAAD Sequencing Panel Panel

Marfan/TAAD Sequencing & Del/Dup Panel Panel

Connective Tissue Disorders Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AutismNext Panel

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

CustomNext: Neuro Panel

CustomNext: Cardio Panel

Neurodevelopment-Expanded Panel

TAADNext Panel

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

IDNext Panel

MED12. Complete sequencing Panel

MED12. Detection of the mutation p.Asn1007Ser, p.Arg961Trp and p.Gly958Glu by sequencing Panel

MED12. Sequencing of the exons 4, 5, 20, 21, 22, 28 and 36 Panel

Connective Tissue Seq Analysis Panel

Connective Tissue Seq + Del/Dup Panel Panel

Connective Tissue Del/Dup Panel Panel

Opitz-Kaveggia Syndrome (sequence analysis of MED12 gene) Panel

Lujan-Fryns syndrome (sequence analysis of MED12 gene) Panel

Macrocephaly (NGS panel for 16 genes) Panel

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

Opitz-Kaveggia syndrome (deletion/duplication analysis on MED12 gene) Panel

Lujan-Fryns syndrome (deletion/duplication analysis on MED12 gene) Panel

Lujan-Fryns syndrome (deletion/duplication analysis on MED12 gene) Panel

Opitz-Kaveggia syndrome (deletion/duplication analysis on MED12 gene) Panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

Hypospadias Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via MED12 Gene Sequencing with CNV Detection Panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

Opitz G/BBB Syndrome Sequencing Panel with CNV Detection Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel