Microphthalmia, and Coloboma

Diseases related with Microphthalmia and Coloboma

In the following list you will find some of the most common rare diseases related to Microphthalmia and Coloboma that can help you solving undiagnosed cases.


Top matches:

Medium match COLOBOMATOUS MICROPHTHALMIA


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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA

Medium match MICROPHTHALMIA, ISOLATED 1; MCOP1


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.

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

Related symptoms:

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

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Other less relevant matches:

Medium match MICROPHTHALMIA, ISOLATED 4; MCOP4


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Postaxial polydactyly
  • Absent testis


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 4; MCOP4

Medium match COLOBOMA OF OPTIC NERVE


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA OF OPTIC NERVE

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3


MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

Medium match CATARACT 9, MULTIPLE TYPES; CTRCT9


Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about CATARACT 9, MULTIPLE TYPES; CTRCT9

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Oral cleft
  • Iris coloboma
  • Holoprosencephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10


Related symptoms:

  • Seizures
  • Global developmental delay
  • Atrial septal defect
  • Microphthalmia
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10

Top 5 symptoms//phenotypes associated to Microphthalmia and Coloboma

Symptoms // Phenotype % cases
Microcornea Uncommon - Between 30% and 50% cases
Anophthalmia Uncommon - Between 30% and 50% cases
Iris coloboma Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
Visual impairment Rare - less than 30% cases
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Other less frequent symptoms

Patients with Microphthalmia and Coloboma. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Nystagmus Intellectual disability Congenital cataract Cataract Chorioretinal coloboma Global developmental delay Glaucoma Bilateral microphthalmos Nuclear cataract Abnormality of vision Reduced visual acuity Holoprosencephaly Esotropia Oral cleft Pendular nystagmus Seizures Atrial septal defect Progressive cataract Orbital cyst Lamellar cataract Strabismus Posterior subcapsular cataract Anterior staphyloma Increased intraocular pressure Hypermetropia High hypermetropia Sclerocornea Corneal neovascularization Scleral staphyloma Postaxial polydactyly Subcapsular cataract Absent testis Optic nerve coloboma Cryptorchidism Lens luxation Visual loss Amblyopia Microcoria



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