OTX2 gene related symptoms and diseases

All the information presented here about the OTX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to OTX2 gene

Symptoms // Phenotype	% Cases
Short stature	Common - Between 50% and 80% cases
Agenesis of corpus callosum	Common - Between 50% and 80% cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Optic nerve hypoplasia	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with OTX2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Ectopic posterior pituitary
Rarely - Less than 30% cases
Sensorineural hearing impairment
Anterior pituitary hypoplasia
Global developmental delay
Nystagmus
Strabismus
Respiratory distress
Cleft palate

And 135 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to OTX2 gene

Here you will find a list of rare diseases related to the OTX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

Description

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Most common symptoms of AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

Respiratory distress
Agenesis of corpus callosum
Narrow mouth
Polyhydramnios
Low-set, posteriorly rotated ears

More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

SOURCES: ORPHANET

MICROPHTHALMIA, ISOLATED 1; MCOP1

Alternate names

MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop

Description

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1

Microphthalmia
Glaucoma
Coloboma
Hypermetropia
Anophthalmia

More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

SOURCES: MESH OMIM ORPHANET

SEPTO-OPTIC DYSPLASIA SPECTRUM

Alternate names

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome

Description

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM

Intellectual disability
Seizures
Global developmental delay
Short stature
Nystagmus

More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

SOURCES: ORPHANET

SYNDROMIC MICROPHTHALMIA TYPE 5

Alternate names

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5, syndromic microphthalmia/anophthalmia due to otx2 mutation

Description

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

Most common symptoms of SYNDROMIC MICROPHTHALMIA TYPE 5

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

SOURCES: MESH OMIM ORPHANET

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Alternate names

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms, familial congenital hypopituitarism

Description

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

Most common symptoms of COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Hearing impairment

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

SOURCES: OMIM ORPHANET MESH

PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

Most common symptoms of PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

Short stature
Ectopic posterior pituitary

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

SOURCES: OMIM

BUTTERFLY-SHAPED PIGMENT DYSTROPHY

Alternate names

BUTTERFLY-SHAPED PIGMENT DYSTROPHY Is also known as butterfly-shaped pigmentary macular dystrophy, butterfly-shaped pattern dystrophy

Description

Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.

More info about BUTTERFLY-SHAPED PIGMENT DYSTROPHY

SOURCES: ORPHANET

Search interest in OTX2

Potential gene panels for OTX2 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

OTX2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to OTX2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to OTX2 gene

AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

Description

Most common symptoms of AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

MICROPHTHALMIA, ISOLATED 1; MCOP1

Alternate names

Description

Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1

SEPTO-OPTIC DYSPLASIA SPECTRUM

Alternate names

Description

Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM

SYNDROMIC MICROPHTHALMIA TYPE 5

Alternate names

Description

Most common symptoms of SYNDROMIC MICROPHTHALMIA TYPE 5

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Alternate names

Description

Most common symptoms of COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

Most common symptoms of PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

BUTTERFLY-SHAPED PIGMENT DYSTROPHY

Alternate names

Description

Search interest in OTX2

Potential gene panels for OTX2 gene

MitoMet®Plus aCGH Analysis Panel

Leber Congential Amaurosis Panel (MitomeNGS) Panel

OTX2 Familial Mutation/Variant Analysis Panel

OTX2 Prenatal Sequence Analysis Panel

OTX2 Sequence Analysis Panel

Leber Congenital Amaurosis Panel Panel

Macular Degeneration Panel Panel

Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing Panel

Comprehensive Brain Malformation Panel Panel

Anophthalmia/microphthalmia Panel

Microphthalmia, syndromic 5 Panel

OTX2 mutation analysis Panel

Pituitary hormone deficiency, combined 6 (sequence analysis of OTX2 gene) Panel

Leber congenital amaurosis (NGS panel for 20 genes) Panel

Microphthalmia (NGS panel for 26 genes) Panel

Microphthalmia (sequence analysais of OTX2 gene) Panel

Congenital hypopituitarism (NGS panel for 7 genes) Panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Congenital hypopituitarism (NGS panel for 7 genes) Panel

Syndromic Microphthalmia via OTX2 Gene Sequencing with CNV Detection Panel

Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection Panel

Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel

Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel

Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel

Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel

Leber congenital amaurosis and related disorders Comprehensive panel Panel

Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel

Leber congenital amaurosis and related disorders NGS panel Panel

Short stature with endocrinopathy NGS panel Panel

Short stature with endocrinopathy Deletion / Duplication panel Panel

Short stature with endocrinopathy Comprehensive panel Panel

Mental retardation - different panels Panel

OTX2 Panel

Eye Diseases - panels Panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

PAX6-Related Anophthalmia Panel

Microphthalmia syndromic type 4 Panel

Microphthalmia panel Panel

Microphthalmy Panel Panel

Septo-optical dysplasia Panel Panel

Leber Congenital Amaurosis Panel Panel

Single gene testing OTX2 Panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Eye diseases comprehensive panel Panel

Combined Pituitary Hormone Deficiency Panel