Cataract 5 multiple types- MedGen UID:
- 78608
- •Concept ID:
- C0266537
- •
- Congenital Abnormality
Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type.
The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
Cataract 20 multiple types- MedGen UID:
- 101117
- •Concept ID:
- C0524524
- •
- Disease or Syndrome
Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar.
Cataract-hypertrichosis-intellectual disability syndrome- MedGen UID:
- 167117
- •Concept ID:
- C0796282
- •
- Disease or Syndrome
This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Cataract 23- MedGen UID:
- 814342
- •Concept ID:
- C3808012
- •
- Disease or Syndrome
Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.
Cataract 33- MedGen UID:
- 814437
- •Concept ID:
- C3808107
- •
- Disease or Syndrome
Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.
Cataract 39 multiple types- MedGen UID:
- 815130
- •Concept ID:
- C3808800
- •
- Disease or Syndrome
Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.
Cataract 15 multiple types- MedGen UID:
- 815331
- •Concept ID:
- C3809001
- •
- Disease or Syndrome
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.