CYB5A gene related symptoms and diseases

All the information presented here about the CYB5A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYB5A gene

Symptoms // Phenotype % Cases
Micropenis Common - Between 50% and 80% cases
Hypospadias Common - Between 50% and 80% cases
Male pseudohermaphroditism Common - Between 50% and 80% cases
Elevated circulating luteinizing hormone level Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CYB5A gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Female external genitalia in individual with 46,XY karyotype
  • Enlarged polycystic ovaries
  • Decreased fertility in females
  • Primary gonadal insufficiency
  • Dysmenorrhea
  • Hypoplasia of the vagina
  • Decreased fertility in males
  • Decreased circulating androgen level

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYB5A gene

Here you will find a list of rare diseases related to the CYB5A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY


Description

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Most common symptoms of 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

SOURCES: ORPHANET

HEREDITARY METHEMOGLOBINEMIA


Alternate names

HEREDITARY METHEMOGLOBINEMIA Is also known as autosomal recessive methemoglobinemia, congenital methemoglobinemia

Description

Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2, see these terms).


More info about HEREDITARY METHEMOGLOBINEMIA

SOURCES: ORPHANET

METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG


Alternate names

METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG Is also known as methemoglobinemia due to deficiency of cytochrome b5, formerly, isolated 17,20-lyase deficiency, pure, methemoglobinemia type iv, formerly

Description

Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme (OMIM ), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients (Idkowiak et al., 2012).Other autosomal recessive methemoglobinemias include types I and II (see {250800}), caused by mutation in the CYB5R3 gene (OMIM ). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene (OMIM ), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see {124015.0016}).

Most common symptoms of METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG

  • Respiratory distress
  • Abnormality of metabolism/homeostasis
  • Hypospadias
  • Micropenis
  • Dyspnea


More info about METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG

SOURCES: OMIM MESH


Potential gene panels for CYB5A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

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

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

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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

CYB5A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYB5A gene.

More info about this panel


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