Abnormality of the skeletal system, and Congenital cataract

Diseases related with Abnormality of the skeletal system and Congenital cataract

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Congenital cataract that can help you solving undiagnosed cases.

Top matches:

Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 39, MULTIPLE TYPES; CTRCT39

Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'

CATARACT 18; CTRCT18 Is also known as cataract, autosomal recessive congenital 2|catc2

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 18; CTRCT18

The i and I antigens of the I blood group system (OMIM ) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2 ), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see {110800}), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011).

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 13 WITH ADULT I PHENOTYPE; CTRCT13

Other less relevant matches:

CATARACT 25; CTRCT25 Is also known as ccsso|cataract, central pouch-like, with sutural opacities|cataract, central saccular, with sutural opacities

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CATARACT 25; CTRCT25

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 45; CTRCT45

Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'

CATARACT 10, MULTIPLE TYPES; CTRCT10 Is also known as cataract, congenital zonular, with sutural opacities|cczs

Related symptoms:

  • Cataract
  • Congenital cataract
  • Nuclear cataract
  • Posterior Y-sutural cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 10, MULTIPLE TYPES; CTRCT10

Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.

Related symptoms:

  • Cataract
  • Congenital cataract
  • Nuclear cataract
  • Cortical cataract
  • Lamellar cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 15, MULTIPLE TYPES; CTRCT15

Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical.The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.'

CATARACT 22, MULTIPLE TYPES; CTRCT22 Is also known as cataract, congenital nuclear, autosomal recessive 2|catcn2

Related symptoms:

  • Cataract
  • Glaucoma
  • Congenital cataract
  • Nuclear cataract
  • Posterior polar cataract


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 22, MULTIPLE TYPES; CTRCT22

Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.

CATARACT 1, MULTIPLE TYPES; CTRCT1 Is also known as cataract 1, multiple types, with or without microcornea|czp1|czp|cae1|cataract, duffy-linked|cataract, zonular pulverulent, 1

Related symptoms:

  • Cataract
  • Microphthalmia
  • Congenital cataract
  • Microcornea
  • Posterior subcapsular cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 1, MULTIPLE TYPES; CTRCT1

Related symptoms:

  • Cataract
  • Myopia
  • Glaucoma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 42; CTRCT42

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Nuclear cataract Uncommon - Between 30% and 50% cases
Cortical cataract Rare - less than 30% cases
Glaucoma Rare - less than 30% cases
Posterior Y-sutural cataract Rare - less than 30% cases

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Congenital cataract. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Lamellar cataract Posterior polar cataract Polar cataract Microphthalmia Microcornea Posterior subcapsular cataract Pulverulent cataract Zonular cataract Nuclear pulverulent cataract Myopia


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