ABCB6 gene related symptoms and diseases

Alternate names

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

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

• Neoplasm
• Abnormality of metabolism/homeostasis
• Obesity
• Diabetes mellitus
• Apnea

SOURCES: OMIM MESH

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

• Macular coloboma

SOURCES: OMIM ORPHANET

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

• Short stature
• Hearing impairment
• Hypopigmentation of the skin
• Cutaneous photosensitivity
• Hypopigmented skin patches

SOURCES: MESH OMIM ORPHANET

Description

Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.

Most common symptoms of FAMILIAL PSEUDOHYPERKALEMIA

• Hypertension
• Hyperkalemia
• Reticulocytosis
• Increased mean corpuscular volume
• Stomatocytosis

SOURCES: ORPHANET

SOURCES: ORPHANET

Alternate names

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina, coi, coloboma, uveoretinal

Description

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

Most common symptoms of COLOBOMA OF IRIS

• Intellectual disability
• Microcephaly
• Growth delay
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET OMIM

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

• Microphthalmia
• Coloboma

SOURCES: OMIM

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

• Neoplasm
• Pain
• Coloboma
• Pruritus
• Hypopigmentation of the skin

SOURCES: OMIM

SOURCES: ORPHANET

Alternate names

COLOBOMATOUS MICROPHTHALMIA Is also known as mac, microphthalmia, colobomatous, isolated 1, microphthalmia-anophthalmia-coloboma syndrome, microphthalmia with colobomatous cyst

Description

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

Most common symptoms of COLOBOMATOUS MICROPHTHALMIA

• Microphthalmia
• Coloboma
• Microcornea
• Anophthalmia
• Increased intraocular pressure

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM

Description

Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.

SOURCES: ORPHANET

Alternate names

COLOBOMA OF OPTIC DISC Is also known as coloboma of optic papilla

Description

Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).

SOURCES: ORPHANET