Cataract, and Cough

Diseases related with Cataract and Cough

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


Top matches:

Low match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

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Other less relevant matches:

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Low 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

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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 ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Cough

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Splenomegaly Hearing impairment Lymphadenopathy Scarring Behavioral abnormality Alopecia Headache Papule Arthritis Myalgia Abdominal pain Anorexia Blindness Fever Short stature Ataxia Wheezing Sensorineural hearing impairment Vomiting Blurred vision Depressivity Tubulointerstitial nephritis Arthralgia Hypertension Hyperhidrosis Cardiomyopathy Respiratory insufficiency Postnatal growth retardation Diarrhea Failure to thrive Restrictive cardiomyopathy Hepatomegaly Growth delay Emphysema Diabetes insipidus Erythema Dilatation Glomerulopathy Chest pain Pericarditis Photophobia Peripheral neuropathy Respiratory distress Congestive heart failure Subcutaneous nodule Uveitis Hypothyroidism Elevated erythrocyte sedimentation rate Gastrointestinal hemorrhage Abdominal distention Nausea Vertigo Weight loss Abnormal lung morphology Global developmental delay Recurrent pneumonia Pneumonia Stage 5 chronic kidney disease Nephropathy Asthma Recurrent respiratory infections Proteinuria Respiratory failure Hyperkeratosis Mandibular prognathia Respiratory tract infection Skin rash Midface retrusion Intellectual disability Hypertelorism

Rare Symptoms - Less than 30% cases


Hyperuricemia Portal hypertension Acne Skeletal muscle hypertrophy Pulmonary fibrosis Chorioretinal atrophy Interstitial pulmonary abnormality Chorioretinitis Inflammation of the large intestine Abnormality of the gastrointestinal tract Strabismus Motor delay Hematuria Pleural effusion Aortic regurgitation Short neck Ventricular tachycardia Epiphora Erythema nodosum Sudden cardiac death Anterior uveitis Iridocyclitis Anemia Visual impairment Edema Arrhythmia Hepatic failure Syncope Nephrocalcinosis Palpitations Impaired vibratory sensation Obesity Abnormal myocardium morphology Decreased liver function Hemoptysis High-frequency sensorineural hearing impairment Keratoconjunctivitis sicca Hyperpigmentation of the skin Deeply set eye Clinodactyly Urinary incontinence Optic atrophy High-frequency hearing impairment Abnormality of the kidney Chronic fatigue Myocardial fibrosis Delayed puberty Tachycardia Chronic obstructive pulmonary disease Left ventricular hypertrophy Abnormal renal physiology Oligospermia Tubular atrophy Elevated serum creatinine Hyperlipidemia Glycosuria Progressive sensorineural hearing impairment Abnormality of the hand Polydipsia Cognitive impairment Tubulointerstitial fibrosis Patent ductus arteriosus Thick eyebrow Hypogonadism Autism Mitral regurgitation Conductive hearing impairment Autistic behavior Sparse hair Prominent nasal bridge Hypermetropia Specific learning disability Oligomenorrhea Abnormality of the cardiovascular system Thickened skin Short toe ST segment depression Precocious puberty Pericardial effusion Short finger Impaired temperature sensation Decreased glomerular filtration rate Pancreatitis Polyuria Pallor Frontal bossing Abnormal facial shape Joint stiffness Irritability Increased antibody level in blood Recurrent otitis media Nephrotic syndrome Rod-cone dystrophy Optic disc pallor Developmental regression Eczema Otitis media Hepatosplenomegaly Vasculitis Glaucoma Visual loss Migraine Malar flattening Carious teeth Limitation of joint mobility Optic neuritis Retinal dystrophy Infertility Nyctalopia Chills Recurrent aphthous stomatitis Retinopathy Conjunctivitis Flexion contracture Neoplasm Poor coordination Stroke Nausea and vomiting Scoliosis Microcephaly Myocardial infarction Malabsorption Posterior subcapsular cataract Subcapsular cataract Purpura Paresthesia Peripheral visual field loss Unexplained fevers Encephalopathy Renovascular hypertension Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Facial hirsutism Squared iliac bones Decreased lacrimation Shortened PR interval Kyphosis Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Albuminuria Hyporeflexia Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Myoclonus Functional abnormality of the gastrointestinal tract Abnormality of glycosphingolipid metabolism Chronic hepatic failure Abnormal common carotid artery morphology Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Hypoplastic male external genitalia Nystagmus Feeding difficulties Increased carotid artery intimal medial thickness Delayed speech and language development Abnormal ST segment Abnormality of the dentition Acroparesthesia Impaired renal concentrating ability Heavy proteinuria Vascular tortuosity Abnormality of the pituitary gland Tenesmus Left ventricular septal hypertrophy Urethral obstruction Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Dystonia Abnormality of metabolism/homeostasis Hepatic necrosis Achromatopsia Biventricular hypertrophy Thickened ears Xerostomia Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Abnormal adipose tissue morphology Large earlobe Nonproductive cough Exudative retinopathy Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Increased circulating androgen level Achalasia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Renal tubular acidosis Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Orthostatic hypotension Childhood-onset truncal obesity Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Anhidrosis Chronic active hepatitis Sinus bradycardia Nephrogenic diabetes insipidus Dysesthesia Abnormality of temperature regulation Limb pain Corneal crystals Vitreous haze Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Diabetes mellitus Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormal cornea morphology Hyperostosis frontalis interna Abnormality of the renal tubule Abnormal thrombosis Chronic pain Granular macular appearance Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Receptive language delay Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy Abnormality of the nose Abnormality of femur morphology Abnormal muscle tone Dilated cardiomyopathy Polydactyly Agenesis of permanent teeth Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Unilateral breast hypoplasia Precocious puberty in females Thoracic scoliosis EEG with occipital slowing Vertical nystagmus Abnormality of prothrombin Increased number of teeth Abnormality of renal calyx morphology Bronchitis Polyphagia Hyperventilation Melena Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Hyperostosis First degree atrioventricular block Hyperglycemia Glucose intolerance Hematemesis Abnormal retinal morphology Frontal balding Hydroureter Urinary urgency Increased total bilirubin Truncal obesity Dilatation of the bladder Alopecia of scalp Broad foot Abnormal spermatogenesis Hepatic encephalopathy Testicular atrophy Multinodular goiter Abnormal retinal artery morphology Widely-spaced incisors Abnormality of female external genitalia Elevated C-reactive protein level Arteriosclerosis Disinhibition Urinary retention Poor fine motor coordination Pyelonephritis Urethral stenosis Acute pancreatitis Recurrent cystitis Abnormal left ventricle morphology Retinal pigment epithelial atrophy Ketoacidosis Myocarditis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Right ventricular hypertrophy Acute hepatic failure Recurrent bronchitis Male hypogonadism Endocardial fibroelastosis Esophageal varix Ovarian cyst Bull's eye maculopathy Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Abnormality of the optic disc Chronic infection Gastroesophageal reflux Cirrhosis Cardiomegaly Hepatitis Pigmentary retinopathy Cyanosis Progressive visual loss Decreased testicular size Growth hormone deficiency Round face Vesicoureteral reflux Ascites Sleep disturbance Epigastric pain Hepatic steatosis Hirsutism Retinal degeneration Epidermal acanthosis Abnormality of the liver Female hypogonadism Kyphoscoliosis Urethral stricture Pes planus Jaundice Elevated hepatic transaminase Glue ear Abnormal chorioretinal morphology Localized hirsutism Generalized tonic-clonic seizures Hypotrichosis Ophthalmoplegia Pulmonic stenosis Dry skin Type II diabetes mellitus Pulmonary arterial hypertension Abnormality of the urethra Cholelithiasis Hypercholesterolemia Multifocal atrial tachycardia Cone/cone-rod dystrophy Goiter Polycystic ovaries Abnormality of dental color Elevated alkaline phosphatase Acanthosis nigricans Hyperinsulinemia Lipodystrophy Nephritis Chronic otitis media Obsessive-compulsive behavior Lumbar scoliosis Atherosclerosis Macular degeneration Hypertriglyceridemia Sinusitis Involuntary movements Recurrent urinary tract infections Chronic diarrhea Abnormality of retinal pigmentation Insulin resistance Hepatic fibrosis Gynecomastia Accelerated skeletal maturation Hypergonadotropic hypogonadism Horizontal nystagmus Increased body weight Generalized hirsutism Hypogonadotrophic hypogonadism Absence seizures Tachypnea Stridor Tricuspid regurgitation Epididymitis Eosinophilia Leukopenia Osteolysis Bronchiectasis Nephrolithiasis Pancytopenia Hypopigmentation of the skin Hemolytic anemia Facial palsy Proximal muscle weakness Thrombocytopenia Skeletal muscle atrophy Hypopyon Decreased level of D-mannose in urine Genital ulcers Hypercalcemia Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Posterior uveitis Immunologic hypersensitivity Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Stomatitis Hypercalciuria Abnormality of the musculature Cerebral ischemia Cystoid macular edema Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Abnormal salivary gland morphology Dacryocystitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Abnormality of the cerebrospinal fluid Chylothorax Hyperthyroidism Macular edema Optic neuropathy Joint swelling Heart block Increased CSF protein Hypothermia Upper airway obstruction Immune dysregulation Vitreous hemorrhage Bone cyst Skin nodule Night sweats Anterior synechiae of the anterior chamber Pneumothorax Abnormality of the pleura Arterial thrombosis Myositis Non-caseating epithelioid cell granulomatosis Myelodysplasia Leukocytosis Intestinal obstruction Apathy Urticaria Long eyelashes Dehydration Aciduria Sepsis Generalized hypotonia Subungual hyperkeratosis Poikiloderma Osteosarcoma Blepharitis Atrophic scars Cutaneous photosensitivity Colitis Diffuse glomerular basement membrane lamellation Dysphagia Congenital cataract Microscopic hematuria Macroscopic hematuria Thickening of the glomerular basement membrane Lenticonus Diffuse leiomyomatosis Palmoplantar keratoderma Anterior lenticonus Tracheobronchial leiomyomatosis Depressed nasal bridge Short nose Nail dystrophy Neutropenia Hypermelanotic macule Amyloidosis Raynaud phenomenon Confusion Gangrene Pulmonary infiltrates Pustule Aseptic necrosis Pulmonary embolism Rheumatoid arthritis Encephalitis Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Meningitis Hemiparesis Abnormal blistering of the skin Memory impairment Abnormal pyramidal sign Episodic fever Erysipelas Acrocyanosis Large forehead Peritonitis Increased IgA level Neuritis Porokeratosis Neutrophilia Autoimmunity Cervical lymphadenopathy Serositis Pharyngitis Hyperreflexia Gait disturbance Reduced visual acuity Abnormality of T cell physiology Abnormal liver parenchyma morphology Clubbing Esophageal stenosis Abnormality of the nervous system Anxiety Carcinoma Coarse facial features Posteriorly rotated ears Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Pseudopapilledema Corneal opacity Constrictive median neuropathy Irregular vertebral endplates Chronic constipation Hypoplastic iliac wing Tracheal stenosis Broad ribs Craniofacial hyperostosis Peptic ulcer Stiff skin Femoral hernia Epispadias Abnormality of the menstrual cycle Unilateral cleft lip Abnormal lip morphology Abnormality of the penis Hypertrophic cardiomyopathy Pruritus Arthropathy Abnormal intestine morphology Heart murmur Personality changes Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Aminoaciduria Abnormality of the cerebral white matter Thick lower lip vermilion Bulbous nose Thick vermilion border Muscle cramps Hypotension Mitral valve prolapse Ventricular hypertrophy Atrial fibrillation Exercise intolerance Hypohidrosis Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Submucous cleft hard palate Keratoconus Parotitis Ventricular septal defect Camptodactyly Cleft lip Thin upper lip vermilion Narrow mouth Hyperactivity Severe short stature Inguinal hernia Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Recurrent infections Microphthalmia Syndactyly Cerebellar atrophy Abnormality of the skeletal system Abnormal cardiac septum morphology Pulmonary granulomatosis Abnormal cardiac ventricular function Increased T cell count Abnormality of the nasal mucosa Maculopapular exanthema Enlarged lacrimal glands Vitreous snowballs Abnormal trabecular meshwork morphology Macrocephaly Cleft palate Cryptorchidism Ptosis Low-set ears Brachydactyly Intrauterine growth retardation Blepharophimosis Microtia Thickened calvaria Abnormality of epiphysis morphology Abnormal joint morphology High hypermetropia Vertebral fusion External genital hypoplasia 2-3 toe syndactyly Overlapping toe Radial deviation of finger Oral-pharyngeal dysphagia Cone-shaped epiphysis Abnormality of the voice Short long bone Narrow palpebral fissure EMG abnormality Aortic valve stenosis Abnormality of the metaphysis Short philtrum Hypoplasia of the maxilla Small for gestational age Platyspondyly Astigmatism Oral cleft Thin vermilion border Short palm Progressive cerebellar ataxia Choanal atresia Bifid uvula Amenorrhea Coarctation of aorta Abnormality of the ribs Fine hair Short palpebral fissure Abnormality of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthralgia, related diseases and genetic alterations Hyperreflexia and Colitis, related diseases and genetic alterations Cardiomyopathy and Parkinsonism, related diseases and genetic alterations Peripheral neuropathy and Generalized myoclonic seizures, related diseases and genetic alterations Cataract and Thin skin, related diseases and genetic alterations

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