Autoimmunity, and Iris coloboma

Diseases related with Autoimmunity and Iris coloboma

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


Top matches:

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match PERSISTENT HYPERPLASTIC PRIMARY VITREOUS


Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Low match PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT


Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.

PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT Is also known as retinol dystrophy-iris coloboma-comedogenic acne syndrome

Related symptoms:

  • Cataract
  • Visual impairment
  • Patent ductus arteriosus
  • Reduced visual acuity
  • Coloboma


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT

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Other less relevant matches:

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Low match COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Coloboma
  • Iris coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

Low match DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development
  • Peripheral neuropathy
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Iris coloboma

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Coloboma Common - Between 50% and 80% cases
Microcornea Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Iris coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Reduced visual acuity Hearing impairment

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Retinal atrophy Retinal dystrophy Amblyopia Exotropia Acne Visual impairment Posterior synechiae of the anterior chamber Bilateral microphthalmos Esotropia Anterior segment developmental abnormality Corneal opacity Glaucoma Patent ductus arteriosus Intellectual disability Strabismus Visual loss Delayed speech and language development Congenital cataract Micrognathia Leukocoria Retinal fold Remnants of the hyaloid vascular system Band keratopathy Shallow anterior chamber Nuclear cataract Exudative vitreoretinopathy Myopia Phthisis bulbi Posterior subcapsular cataract Anterior synechiae of the anterior chamber Retinal nonattachment Hyphema Subcapsular cataract Retinopathy Retinal degeneration Abnormality of the ear Persistent pupillary membrane Vitreoretinopathy Buphthalmos Abnormality of vision Right aortic arch with mirror image branching Esophoria Accommodative esotropia Sacral meningocele Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Chorioretinal coloboma Blindness Progressive visual loss Holoprosencephaly Oral cleft Retinal detachment Progressive cataract Lamellar cataract Optic nerve hypoplasia Congenital blindness Uveitis Pendular nystagmus Peripheral neuropathy Hypercholesterolemia Abnormality of the dental pulp Pulp stones Progressive sensorineural hearing impairment Increased number of teeth Ankylosis Taurodontia Periodontitis Retinal coloboma High-frequency hearing impairment Macrodontia Lens subluxation Abnormality of dental enamel High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Corneal dystrophy Otitis media with effusion Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Progressive hearing impairment Gingival overgrowth Constriction of peripheral visual field Aplasia of the thymus Abnormal retinal morphology Keratoconjunctivitis sicca Ectopia pupillae Corneal neovascularization Peripheral retinal atrophy Absent foveal reflex Patchy atrophy of the retinal pigment epithelium Comedonal acne Hypertropia Anteverted nares Hypoplasia of dental enamel Abnormality of the dentition Long philtrum Carious teeth Long face Delayed eruption of teeth Hypodontia Full cheeks Ectodermal dysplasia Bilateral sensorineural hearing impairment Arteria lusoria Duodenal stenosis Conotruncal defect Cleft lip Abnormal heart morphology Inguinal hernia Posteriorly rotated ears Narrow mouth Hypothyroidism Retrognathia Umbilical hernia Hydronephrosis Arthritis Telecanthus Abnormality of the kidney Thrombocytopenia Abnormality of the pinna Craniosynostosis Blepharophimosis Attention deficit hyperactivity disorder Short philtrum Microtia Generalized tonic-clonic seizures Astigmatism Bulbous nose Obesity Abnormality of cardiovascular system morphology Hemolytic anemia Cognitive impairment Global developmental delay Short stature Microcephaly Scoliosis Hypertelorism Neoplasm Abnormal facial shape Cleft palate Ptosis Low-set ears Anemia Recurrent infections Flexion contracture High palate Fever Ventricular septal defect Short neck Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Hypertonia Behavioral abnormality Immunodeficiency Polymicrogyria High, narrow palate Vascular tortuosity Aplasia of the uterus Vitiligo Hypoparathyroidism Meningocele Sclerocornea Truncus arteriosus Myelomeningocele Tetany Juvenile rheumatoid arthritis Seborrheic dermatitis Hypoplasia of the thymus Graves disease Posterior embryotoxon Interrupted aortic arch Perimembranous ventricular septal defect Femoral hernia Alcoholism Right aortic arch Impaired T cell function Perisylvian polymicrogyria Seizures Retinal vascular tortuosity Abnormality of the middle ear Abnormality of the thymus Bipolar affective disorder Autoimmune thrombocytopenia Bifid uvula Broad thumb Chorea Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Coarctation of aorta Low posterior hairline Short palpebral fissure Primary amenorrhea Renal dysplasia Spina bifida Autoimmune hemolytic anemia Hypocalcemia Purpura Bicuspid aortic valve Schizophrenia Arnold-Chiari malformation Nasal speech Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Inflammation of the large intestine Anophthalmia



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