SALL2 gene related symptoms and diseases

All the information presented here about the SALL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SALL2 gene

Symptoms // Phenotype % Cases
Coloboma Rare - less than 30% cases
Reduced visual acuity Rare - less than 30% cases
Nystagmus Rare - less than 30% cases
Iris coloboma Rare - less than 30% cases
Macular coloboma Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with SALL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Optic nerve coloboma
  • Aganglionic megacolon
  • Aortic aneurysm
  • Chorioretinal coloboma
  • Increased intraocular pressure
  • Remnants of the hyaloid vascular system
  • Peters anomaly
  • Morning glory anomaly

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SALL2 gene

Here you will find a list of rare diseases related to the SALL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

  • Macular coloboma


More info about COLOBOMA OF MACULA

SOURCES: OMIM ORPHANET

COLOBOMA OF EYE LENS



More info about COLOBOMA OF EYE LENS

SOURCES: ORPHANET

COLOBOMA OF IRIS


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


More info about COLOBOMA OF IRIS

SOURCES: ORPHANET OMIM

COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE


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 1 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).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Most common symptoms of COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Coloboma
  • Iris coloboma


More info about COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

SOURCES: OMIM

COLOBOMA OF CHOROID AND RETINA


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.


More info about COLOBOMA OF CHOROID AND RETINA

SOURCES: ORPHANET

COLOBOMA OF OPTIC DISC


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).


More info about COLOBOMA OF OPTIC DISC

SOURCES: ORPHANET

PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA


Alternate names

PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as precursor t-cell acute lymphoblastic leukemia/lymphoma, t-all, precursor t-cell acute lymphocytic leukemia, precursor t-cell acute lymphocytic leukemia/lymphoma


More info about PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

SOURCES: ORPHANET


Potential gene panels for SALL2 gene

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel

SALL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SALL2 gene.

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10

More info about this panel


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