Cataract, and Abnormality of the skeletal system

Diseases related with Cataract and Abnormality of the skeletal system

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


Top matches:

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match PROXIMAL MYOTONIC MYOPATHY


Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.

PROXIMAL MYOTONIC MYOPATHY Is also known as ricker syndrome|proximal myotonic dystrophy|myotonic dystrophy type 2|ricker disease

Related symptoms:

  • Cataract
  • Myotonia


SOURCES: ORPHANET MENDELIAN

More info about PROXIMAL MYOTONIC MYOPATHY

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Other less relevant matches:

Low match CATARACT 43; CTRCT43


Related symptoms:

  • Cataract
  • Subcapsular cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 43; CTRCT43

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match CATARACT 33, MULTIPLE TYPES; CTRCT33


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.

Related symptoms:

  • Cataract
  • Nuclear cataract
  • Cortical cataract
  • Lamellar cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 33, MULTIPLE TYPES; CTRCT33

Low match FUCHS ENDOTHELIAL CORNEAL DYSTROPHY


Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd|late hereditary endothelial dystrophy|endoepithelial corneal dystrophy

Related symptoms:

  • Cataract
  • Blindness
  • Abnormality of the eye
  • Opacification of the corneal stroma
  • Corneal dystrophy


SOURCES: ORPHANET MENDELIAN

More info about FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

Low match RETINITIS PIGMENTOSA 23; RP23


Related symptoms:

  • Cataract
  • Visual loss
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 23; RP23

Low match FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME


Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME Is also known as o'donnell-pappas syndrome

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Optic atrophy
  • Abnormality of the eye


SOURCES: MESH ORPHANET MENDELIAN

More info about FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME

Low match CATARACT 20, MULTIPLE TYPES; CTRCT20


Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, or peripheral cortical.

Related symptoms:

  • Cataract
  • Cortical cataract
  • Membranous cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 20, MULTIPLE TYPES; CTRCT20

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

Symptoms // Phenotype % cases
Cortical cataract Rare - less than 30% cases
Abnormality of the eye Rare - less than 30% cases
Subcapsular cataract Rare - less than 30% cases
Visual loss Rare - less than 30% cases
Generalized hyperpigmentation Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Abnormality of vision Optic atrophy Strabismus Nystagmus Eccentric visual fixation Posterior subcapsular cataract Abnormality of color vision Nyctalopia Pallor Rod-cone dystrophy Corneal dystrophy Sensorineural hearing impairment Opacification of the corneal stroma Abnormality of metabolism/homeostasis Blindness Lamellar cataract Myotonia Nuclear cataract Abnormal vitreous humor morphology Retinal detachment Corneal opacity Retinopathy Myopia Cleft palate Membranous cataract



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