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:
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
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
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:
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
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
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
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
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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