ABCB6 gene related symptoms and diseases

All the information presented here about the ABCB6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET.

Top 5 symptoms associated to ABCB6 gene



Symptoms // Phenotype % Cases
Autosomal dominant inheritance Very Common - Between 80% and 100% cases
Anemia Rare - less than 30% cases
Macule Rare - less than 30% cases
Pruritus Rare - less than 30% cases
Neoplasm Rare - less than 30% cases

Other less frequent symptoms

Patients with ABCB6 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases

Coloboma Hemolytic anemia Hirsutism Infertility Amenorrhea Keratoconjunctivitis sicca Apnea Type II diabetes mellitus

And 50 more phenotypes.

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Rare diseases associated to ABCB6 gene

Here you will find a list of rare diseases related to the ABCB6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLOOD GROUP, LANGEREIS SYSTEM; LAN

Description

Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features (summary by Helias et al., 2012).

Most common symptoms of BLOOD GROUP, LANGEREIS SYSTEM; LAN

  • Anemia
  • Jaundice
  • Hemolytic anemia
  • Colitis
  • Ulcerative colitis


More info about BLOOD GROUP, LANGEREIS SYSTEM; LAN

SOURCES: OMIM UMLS

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Description

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Most common symptoms of DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

  • Autosomal dominant inheritance
  • Pica
  • Neoplasm
  • Pain
  • Coloboma


More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

SOURCES: MONDO OMIM UMLS

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7

Most common symptoms of MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7

  • Autosomal dominant inheritance
  • Microphthalmia
  • Coloboma


More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7

SOURCES: OMIM MONDO UMLS

COLOBOMA OF MACULA

Alternate names

COLOBOMA OF MACULA Is also known as agenesis of macula;

Description

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Most common symptoms of COLOBOMA OF MACULA

  • Autosomal dominant inheritance
  • Macular coloboma


More info about COLOBOMA OF MACULA

SOURCES: UMLS MONDO ORPHANET OMIM GARD

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1

Alternate names

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 Is also known as ;

Description

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). Genetic Heterogeneity of Dyschromatosis Universalis HereditariaDyschromatosis universalis hereditaria-2 (DUH2 ) maps to chromosome 12q21-q23. DUH3 (OMIM ) is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35.

Most common symptoms of DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Infantile onset
  • Cutaneous photosensitivity


More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1

SOURCES: UMLS MESH ORPHANET MONDO OMIM

PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2

Alternate names

PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2 Is also known as pseudohyperkalemia lille, pseudohyperkalemia falkirk, pseudohyperkalemia chiswick, pseudohyperkalemia cardiff, pseudohyperkalemia east london, cryohydrocytosis, mild;

Description

'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see {194380}) (summary by Gore et al., 2002).For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see {194380}.

Most common symptoms of PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2

  • Autosomal dominant inheritance
  • Anemia
  • Hypertension
  • Tremor
  • Hemolytic anemia


More info about PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2

SOURCES: OMIM UMLS ORPHANET

POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco1;pco, pcos, stein-leventhal syndrome, hyperandrogenemia

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Autosomal dominant inheritance
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: UMLS ICD10 DOID COHD NCIT ICD9 SCTID MESH EFO MONDO OMIM

Potential gene panels for ABCB6 gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

Anophthalmia/microphthalmia Panel

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark. Anophthalmia/microphthalmia that also includes the following genes: RAX ABCB6 MFRP OTX2 NHS STRA6 HCCS BCOR SIX6 SOX2

More info about this panel

ABCB6 Sequencing Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

This panel specifically test the ABCB6 gene.

More info about this panel

ABCB6 Deletion/duplication analysis Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

This panel specifically test the ABCB6 gene.

More info about this panel

Microphthalmia (NGS panel for 26 genes) Panel

By CGC Genetics in Portugal. Microphthalmia (NGS panel for 26 genes) that also includes the following genes: RAX ABCB6 MFRP OTX2 SHH STRA6 HCCS BCOR SIX6 SOX2

More info about this panel

Cataract Panel

By MGZ Medical Genetics Center in Germany. Cataract that also includes the following genes: EYA1 COL2A1 PAX6 ABCB6 WFS1 FOXC1 PITX2 NHS CRYAB OPA3

More info about this panel

Eye Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Eye Diseases - panels that also includes the following genes: C12orf65 FOXL2 RAX TYRP1 EYA1 LRP5 COL2A1 COL3A1 OCA2 VSX1

More info about this panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

By MGZ Medical Genetics Center in Germany. Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: FOXL2 RAX ABCB6 OCRL MFRP NDP OTX2 CYP1B1 SHH STRA6

More info about this panel

Comprehensive mitochondrial disorders panel Panel

By Centogene AG - the Rare Disease Company in Germany. Comprehensive mitochondrial disorders panel that also includes the following genes: MCCC1 MCCC2 ACAD9 ACADM ACADS ACADVL ACAT1 PC UQCRB HLCS

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

By CeGaT GmbH in Germany. Genetic disorders with abnormal pigmentation Panel that also includes the following genes: HFE KRT5 ABCB6 BLM PTPN11 NF2 STK11 NF1 EDN3 PAX3

More info about this panel

Microphthalmy Panel Panel

By CeGaT GmbH in Germany. Microphthalmy Panel that also includes the following genes: RAX ABCB6 MFRP OTX2 SHH STRA6 HCCS BCOR SIX6 SOX2

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

By Asper Biogene Asper Biogene LLC in Estonia. Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: RAX EYA1 VSX1 PAX6 ABCB6 FOXC1 PITX2 MFRP OTX2 CYP1B1

More info about this panel

Eye diseases comprehensive panel Panel

By Asper Biogene Asper Biogene LLC in Estonia. Eye diseases comprehensive panel that also includes the following genes: ABHD12 ZNF513 AIPL1 USH1G USH1C BEST1 INVS OPN1MW SPATA7 TYRP1

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NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

By BLOODGENETICS BLOODGENETICS in Spain. NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: ALDOA ABCB6 GPX1 GPI AK1 NT5C3A CYB5R3 HK1 PFKM ADA

More info about this panel

Developmental Eye Disease panel Panel

By Molecular Vision Laboratory in United States. Developmental Eye Disease panel that also includes the following genes: RAX PAX6 PITX3 ABCB6 FOXC1 PITX2 MFRP NDP OTX2 CYP1B1

More info about this panel

Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: HTT UBE3A MUTYH TP53 MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL

More info about this panel

ABCB6 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCB6 gene.

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

By Blueprint Genetics in Finland. Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: FOXL2 RAX PAX6 ABCB6 OCRL FOXC1 PITX2 MFRP NDP OTX2

More info about this panel

Cataract Panel Panel

By Blueprint Genetics in Finland. Cataract Panel that also includes the following genes: RECQL4 EYA1 COL2A1 PAX6 PITX3 ABCB6 WFS1 OCRL NDP NHS

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

By Laboratorio de Genetica Clinica SL in Spain. ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: RAX ABCB6 MFRP OTX2 SHH STRA6 HCCS BCOR SIX6 SOX2

More info about this panel

Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel

By Reference Laboratory Genetics in Spain. Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RAX ABCB6 OTX2 STRA6 HCCS BCOR SIX6 SOX2 MITF GDF6

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