Cataract, and Bronchiectasis

Diseases related with Cataract and Bronchiectasis

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


Top matches:

Medium match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Medium match IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1


Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 Is also known as bls, type i|bare lymphocyte syndrome type 1|hla class i deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Abnormal lung morphology
  • Bronchiectasis
  • Skin ulcer


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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Other less relevant matches:

Low match HERMANSKY-PUDLAK SYNDROME 4; HPS4


Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Respiratory distress
  • Reduced visual acuity
  • Bruising susceptibility


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 4; HPS4

Low match PRIMARY CILIARY DYSKINESIA


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Low match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3


BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 Is also known as cystic fibrosis-like syndrome

Related symptoms:

  • Bronchiectasis
  • Chronic bronchitis


SOURCES: MESH OMIM MENDELIAN

More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

Low match SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION


Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.

SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION Is also known as familial cd8 deficiency

Related symptoms:

  • Recurrent respiratory infections
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent viral infections
  • Absence of CD8-positive T cells


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION

Top 5 symptoms//phenotypes associated to Cataract and Bronchiectasis

Symptoms // Phenotype % cases
Abnormal lung morphology Uncommon - Between 30% and 50% cases
Chronic sinusitis Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory distress

Rare Symptoms - Less than 30% cases


Chronic bronchitis Pulmonary fibrosis Seizures Abnormality of metabolism/homeostasis Intellectual disability Inflammation of the large intestine Nasal polyposis Hyperpigmentation of the skin Diarrhea Emphysema Photophobia Chronic otitis media Sinusitis Cough Hearing impairment Pneumonia Visual loss Rod-cone dystrophy Respiratory tract infection Scarring Headache Global developmental delay Colitis Reduced visual acuity Clubbing Menorrhagia Abnormal platelet granules Enlarged lacrimal glands Ocular albinism Vitreous snowballs Pulmonary granulomatosis Bruising susceptibility Horizontal nystagmus Abnormal trabecular meshwork morphology Abnormal bleeding Hypoplasia of the fovea Restrictive ventilatory defect Nystagmus Albinism Abnormal liver parenchyma morphology Maculopapular exanthema Anterior uveitis Pneumothorax Abnormality of the pleura Vitreous hemorrhage Chylothorax Cystoid macular edema Abnormality of the cerebrospinal fluid Erythema nodosum Generalized lymphadenopathy Skin plaque Abnormality of the lymph nodes Abnormality of the adrenal glands Chorioretinitis Dacryocystitis Abnormal salivary gland morphology Abnormality of the nasal mucosa Iridocyclitis Abnormal conjunctiva morphology Vitreous floaters Vitritis Abnormal reproductive system morphology Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Parotitis Abnormal cardiac ventricular function Increased T cell count Ventriculomegaly Recurrent otitis media Hydrocephalus Keratitis Hernia Inguinal hernia Hyperkeratosis Abnormality of skin pigmentation Chronic diarrhea Hypohidrosis Recurrent pneumonia Opacification of the corneal stroma Corneal dystrophy Failure to thrive in infancy Hemiplegia Amyloidosis Gait disturbance Ulcerative colitis Focal dystonia Enterocolitis Corneal scarring Broad eyebrow Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Recurrent bacterial infections Recurrent viral infections Dystonia Dysarthria Recurrent infections Bronchitis Conductive hearing impairment Infertility Dyskinesia Otitis media Night sweats Situs inversus totalis Anosmia Neonatal respiratory distress Dextrocardia Ciliary dyskinesia Male infertility Recurrent sinusitis Failure to thrive Polysplenia Asplenia Duodenal atresia Communicating hydrocephalus Nasal obstruction Abdominal situs inversus Abnormal cornea morphology Chronic rhinitis Immotile cilia Absent frontal sinuses Crackles Abnormal respiratory motile cilium morphology Anterior synechiae of the anterior chamber Optic neuropathy Skin nodule Chronic lung disease Subcortical cerebral atrophy Vestibular hypofunction Abnormal cochlea morphology Absent vestibular function Immunodeficiency Skin ulcer Vasculitis Ectopia lentis Combined immunodeficiency Severe combined immunodeficiency Recurrent bronchitis Bronchiolitis Tapetoretinal degeneration Granulomatosis Pain Anemia Peripheral neuropathy Hepatomegaly Fever Skeletal muscle atrophy Fatigue Edema Congestive heart failure Splenomegaly Hemianopia Undetectable electroretinogram Thrombocytopenia Hallucinations Ataxia Sensorineural hearing impairment Motor delay Depressivity Cerebral cortical atrophy Anxiety Abnormality of the eye Nyctalopia Progressive visual loss Psychosis Clumsiness Abnormality of dental enamel Peripheral visual field loss Progressive hearing impairment Mutism Schizophrenia Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Decreased fertility Scotoma High hypermetropia Severe hearing impairment Iris hypopigmentation Renal insufficiency Arrhythmia Bone cyst Hyperuricemia Portal hypertension Pleural effusion Epiphora Diabetes insipidus Blurred vision Increased antibody level in blood Chorioretinal atrophy Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Abnormality of the musculature Hyperthyroidism Keratoconjunctivitis sicca Hypercalciuria Hemoptysis Uveitis Joint swelling Heart block Increased CSF protein Hypothermia Tubulointerstitial nephritis Abnormality of the gastrointestinal tract Upper airway obstruction Macular edema Immune dysregulation Hypercalcemia Eosinophilia Alopecia Hemolytic anemia Glaucoma Weight loss Hypothyroidism Dyspnea Proximal muscle weakness Arthritis Facial palsy Erythema Papule Lymphadenopathy Hepatic failure Hypopigmentation of the skin Ventricular tachycardia Chest pain Sudden cardiac death Syncope Pancytopenia Palpitations Subcutaneous nodule Nephrolithiasis Anorexia Decreased liver function Nephrocalcinosis Osteolysis Leukopenia Absence of CD8-positive T cells



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