MAP3K7 gene related symptoms and diseases

All the information presented here about the MAP3K7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAP3K7 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Fused cervical vertebrae Very Common - Between 80% and 100% cases
Conductive hearing impairment Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAP3K7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wide nasal bridge
  • Intellectual disability
  • Pointed chin
  • Full cheeks
  • Tracheal stenosis
  • Abnormal form of the vertebral bodies
  • Bowing of the long bones
  • Prominent supraorbital ridges

And 155 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAP3K7 gene

Here you will find a list of rare diseases related to the MAP3K7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FRONTOMETAPHYSEAL DYSPLASIA


Alternate names

FRONTOMETAPHYSEAL DYSPLASIA Is also known as fmd

Description

Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

Most common symptoms of FRONTOMETAPHYSEAL DYSPLASIA

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about FRONTOMETAPHYSEAL DYSPLASIA

SOURCES: ORPHANET OMIM

CARDIOSPONDYLOCARPOFACIAL SYNDROME


Alternate names

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome, mitral regurgitation-deafness-skeletal anomalies syndrome, forney syndrome, mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Description

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

Most common symptoms of CARDIOSPONDYLOCARPOFACIAL SYNDROME

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

SOURCES: ORPHANET MESH OMIM

FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Description

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Most common symptoms of FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

SOURCES: OMIM


Potential gene panels for MAP3K7 gene

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

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

Frontometaphyseal dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia Comprehensive panel that also includes the following genes: TAB2 FLNA MAP3K7

More info about this panel

Frontometaphyseal dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia NGS panel that also includes the following genes: TAB2 FLNA MAP3K7

More info about this panel

Frontometaphyseal dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia Deletion / Duplication panel that also includes the following genes: TAB2 FLNA MAP3K7

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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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