Cataract, and Meningitis

Diseases related with Cataract and Meningitis

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


Top matches:

Low match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

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 ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

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Other less relevant 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 TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Low match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Low match WISKOTT-ALDRICH SYNDROME


Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Meningitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Alopecia Vasculitis Lymphadenopathy Keratitis Encephalitis Pulmonary arterial hypertension Global developmental delay Muscular hypotonia Glomerulopathy Pain Erythema Nephropathy Arthralgia Autoimmunity Skin rash

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Cerebral cortical atrophy Pneumonia Recurrent aphthous stomatitis Cerebral ischemia Anemia Supernumerary nipple Uveitis Skin ulcer Rheumatoid arthritis Premature birth Hypoplastic fingernail Thrombocytopenia Proteinuria Hemiparesis Abnormal blistering of the skin Absent hand Gastrointestinal hemorrhage Spasticity Esotropia Umbilical hernia Hypertonia Cognitive impairment Finger syndactyly Leukemia Conjunctivitis Abnormality of the skeletal system Intrauterine growth retardation Urticaria Hypertension Immunodeficiency Intellectual disability Strabismus Microphthalmia Failure to thrive Growth delay Microcephaly Generalized hypotonia Recurrent infections Chest pain Glomerulonephritis Inflammation of the large intestine Abnormal pulmonary valve morphology Congestive heart failure Dilatation Splenomegaly Myalgia Hematuria Gait disturbance Hyperreflexia Neoplasm Ataxia Abdominal pain Camptodactyly of finger Arrhythmia Cough Microscopic hematuria Dyspnea Membranoproliferative glomerulonephritis Retinal vascular proliferation Aciduria Broad nail Abnormal hand morphology Oligohydramnios Asymmetric growth Retinal hemorrhage Abnormal chorioretinal morphology Interphalangeal joint contracture of finger Motor delay Ridged fingernail Scoliosis Myopia Hernia Increased serum lactate Flat face Supernumerary ribs Small for gestational age Myoclonus Hypertrophic cardiomyopathy Short philtrum Hyperactivity Gastroesophageal reflux Astigmatism Wide mouth Intellectual disability, moderate Lactic acidosis Dystrophic toenail Deviation of finger Corneal opacity Delayed eruption of teeth Flat occiput Abnormal aortic valve morphology Moderate global developmental delay Retinal detachment Abnormality of skin pigmentation Oral cleft Exaggerated startle response Hypodontia Attention deficit hyperactivity disorder Hyperkeratosis Hyperhidrosis 3-Methylglutaconic aciduria Visual impairment Hyperalaninemia Gastroparesis Short stature Hyperammonemia Blue sclerae Verrucae Microretrognathia Abnormal toenail morphology Hearing abnormality Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Intention tremor Hemiplegia/hemiparesis Abnormality of dental morphology Eosinophilia Aplasia/Hypoplasia of the corpus callosum Hypopigmented skin patches Spina bifida occulta Osteolysis Leukoencephalopathy Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Hiatus hernia Abnormality of the mouth Glabellar reflex Blepharitis Increased IgE level Recurrent ear infections IgM deficiency Hypoplasia of the thymus Chronic obstructive pulmonary disease Hematochezia Acute leukemia Recurrent lower respiratory tract infections Gingival bleeding Interstitial pneumonitis Hodgkin lymphoma Iron deficiency anemia Microcytic anemia Cellulitis Prolonged bleeding time Petechiae Combined immunodeficiency Focal segmental glomerulosclerosis Abnormality of the menstrual cycle Increased IgA level Chronic otitis media Reduced delayed hypersensitivity Specific anti-polysaccharide antibody deficiency Reduced lymphocyte surface expression of CD43 Abnormal delayed hypersensitivity skin test Absent microvilli on the surface of peripheral blood lymphocytes Chronic leukemia Recurrent intrapulmonary hemorrhage Small vessel vasculitis Large vessel vasculitis Congenital thrombocytopenia Hematemesis Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Abnormal eosinophil morphology Generalized lymphadenopathy Bloody diarrhea Spontaneous hematomas Melena Hyperostosis Glomerulosclerosis Hearing impairment Progressive sensorineural hearing impairment Rigors Renal amyloidosis Band keratopathy Cystinuria Chills Papilledema Episodic fever Amyloidosis Elevated erythrocyte sedimentation rate Recurrent respiratory infections Leukocytosis Nephrotic syndrome Abnormality of the skin Coma Stage 5 chronic kidney disease Ichthyosis Hepatosplenomegaly Sensorineural hearing impairment Peripheral neuropathy Respiratory tract infection Intracranial hemorrhage Epistaxis Sarcoma Chronic kidney disease Recurrent upper respiratory tract infections Purpura Lymphopenia Sinusitis Chronic diarrhea Recurrent otitis media Pancytopenia Bruising susceptibility Eczema Specific learning disability Otitis media Lymphoma Sudden cardiac death Abnormal bleeding Sepsis Neutropenia Hemolytic anemia Neonatal hypotonia Porencephalic cyst Retrognathia Gangrene Endocarditis Alopecia areata Stomatitis Arterial thrombosis Abnormal myocardium morphology Myositis Raynaud phenomenon Pulmonary infiltrates Pleuritis Pustule Aseptic necrosis Pulmonary embolism Hemoptysis Pericarditis Keratoconjunctivitis sicca Blurred vision Epiphora Oral ulcer Thrombophlebitis Pleural effusion Orchitis Cleft palate Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Retrobulbar optic neuritis Erythema nodosum Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Acne Increased intracranial pressure Ventricular septal defect Behavioral abnormality Developmental regression Photophobia Reduced visual acuity Weight loss Glaucoma Visual loss Headache Blindness Joint stiffness Decreased serum complement factor I Loss of eyelashes Discoid lupus rash Macroscopic hematuria IgA deposition in the glomerulus Facial erythema Systemic lupus erythematosus Hepatitis Irritability Scarring Venous thrombosis Memory impairment Cranial nerve paralysis Aortic regurgitation Pancreatitis Anorexia Subcutaneous nodule Mitral regurgitation Myocardial infarction Migraine Retinopathy Vertigo Confusion Paresthesia Malabsorption Nausea and vomiting Papule Stroke Abnormal pyramidal sign Brachydactyly Talipes equinovarus Acidosis Aplasia cutis congenita of scalp Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Aplastic/hypoplastic toenail Chylothorax Periventricular leukomalacia Acrania Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Imperforate hymen Aplasia cutis congenita over posterior parietal area Central hypotonia Respiratory insufficiency Respiratory failure Inguinal hernia Encephalopathy Hypospadias Long philtrum Cerebellar atrophy Cardiomyopathy Anteverted nares Aplasia cutis congenita on trunk or limbs Tremor Wide nasal bridge Hepatomegaly Flexion contracture Low-set ears Cryptorchidism Abnormal facial shape Abnormality of metabolism/homeostasis Pulmonary artery stenosis Oligodactyly Ventriculomegaly EEG abnormality Cleft upper lip Talipes Toe syndactyly Pulmonic stenosis Prominent nasal bridge Abnormal cardiac septum morphology Sparse hair Osteopenia Polymicrogyria Cerebellar hypoplasia Abnormal heart morphology Patent ductus arteriosus Abnormality of cardiovascular system morphology Syndactyly Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Cirrhosis Short distal phalanx of finger Aplasia cutis congenita Leukopenia Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Aortic valve stenosis Ascites Telangiectasia Pachygyria Encephalocele Split hand Small nail Coarctation of aorta Tetralogy of Fallot Nail dysplasia Oral bleeding



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Skin rash, related diseases and genetic alterations Visual impairment and Limb-girdle muscular dystrophy, related diseases and genetic alterations Cognitive impairment and Sinusitis, related diseases and genetic alterations Peripheral neuropathy and Respiratory failure, related diseases and genetic alterations Hypertension and Pancytopenia, related diseases and genetic alterations

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