MAFB gene related symptoms and diseases

All the information presented here about the MAFB 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.

Top 5 symptoms and clinical features associated to MAFB gene

Symptoms // Phenotype % Cases
Micrognathia Very Common - Between 80% and 100% cases
Wide nasal bridge Very Common - Between 80% and 100% cases
Facial asymmetry Uncommon - Between 30% and 50% cases
Spina bifida occulta Uncommon - Between 30% and 50% cases
Preauricular skin tag Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MAFB gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Amblyopia
  • Abnormal form of the vertebral bodies
  • Short palpebral fissure
  • Low posterior hairline
  • Webbed neck
  • Microcornea
  • Everted lower lip vermilion
  • Iris coloboma

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAFB gene

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


MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Alternate names

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant, idiopathic multicentric osteolysis with or without nephropathy, osteolysis, hereditary, of carpal bones with or without nephropathy

Description

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

Most common symptoms of MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

SOURCES: OMIM ORPHANET MESH

DUANE RETRACTION SYNDROME


Alternate names

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome, duane syndrome, durs, drs

Description

Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

Most common symptoms of DUANE RETRACTION SYNDROME

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


More info about DUANE RETRACTION SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for MAFB gene

Multicentric carpotarsal osteolysis syndrome (sequence analysis of MAFB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MAFB gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Multicentric carpotarsal osteolysis syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MAFB gene.

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

MAFB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAFB gene.

More info about this panel

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

FoundationOneĀ® Heme Panel

United States.

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

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

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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