MAP3K1 gene related symptoms and diseases

All the information presented here about the MAP3K1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAP3K1 gene

Symptoms // Phenotype % Cases
Hypospadias Very Common - Between 80% and 100% cases
Gonadal dysgenesis Very Common - Between 80% and 100% cases
Clitoral hypertrophy Very Common - Between 80% and 100% cases
Gonadoblastoma Very Common - Between 80% and 100% cases
Hypoplasia of the uterus Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MAP3K1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sparse axillary hair
  • Primary amenorrhea
  • Perineal hypospadias
  • Absence of secondary sex characteristics
  • Sex reversal
  • Not very common - Between 30% and 50% cases

  • Decreased serum estradiol
  • Elevated circulating follicle stimulating hormone level
  • Neoplasm

And 52 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAP3K1 gene

Here you will find a list of rare diseases related to the MAP3K1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


46,XY COMPLETE GONADAL DYSGENESIS


Alternate names

46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related, 46,xy pure gonadal dysgenesis, 46,xy gonadal dysgenesis, complete, sry-related, 46,xy cgd, swyer syndrome

Description

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

Most common symptoms of 46,XY COMPLETE GONADAL DYSGENESIS

  • Neoplasm
  • Hypospadias
  • Infertility
  • Amenorrhea
  • Primary amenorrhea


More info about 46,XY COMPLETE GONADAL DYSGENESIS

SOURCES: OMIM ORPHANET

46,XY SEX REVERSAL 6; SRXY6


Alternate names

46,XY SEX REVERSAL 6; SRXY6 Is also known as 46,xy gonadal dysgenesis, partial or complete, map3k1-related, 46,xy sex reversal, partial or complete, map3k1-related

Most common symptoms of 46,XY SEX REVERSAL 6; SRXY6

  • Hypospadias
  • Hirsutism
  • Webbed neck
  • Cubitus valgus
  • Clitoral hypertrophy


More info about 46,XY SEX REVERSAL 6; SRXY6

SOURCES: OMIM

46,XY PARTIAL GONADAL DYSGENESIS


Alternate names

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd

Description

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


More info about 46,XY PARTIAL GONADAL DYSGENESIS

SOURCES: ORPHANET


Potential gene panels for MAP3K1 gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel

Invitae Disorders of Male Sex Development Panel Panel

United States.

By Invitae Invitae Disorders of Male Sex Development Panel that also includes the following genes: SRD5A2 SRY WT1 DHH AR MAP3K1 NR0B1 NR5A1

More info about this panel

MAP3K1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAP3K1 gene.

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

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

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

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

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

More info about this panel

Nonsyndromic Disorders of Testicular Development: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Disorders of Testicular Development: gene sequencing panel that also includes the following genes: SRY DHH MAP3K1 NR5A1

More info about this panel


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