Cataract, and Fatigue

Diseases related with Cataract and Fatigue

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


Top matches:

Low match GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD


Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.

GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD Is also known as benign hyperferritinemia

Related symptoms:

  • Cataract
  • Fatigue
  • Arthralgia
  • Increased serum ferritin
  • Fragile nails


SOURCES: ORPHANET MENDELIAN

More info about GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

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Other less relevant matches:

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match ALPORT SYNDROME, X-LINKED; ATS


Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Top 5 symptoms//phenotypes associated to Cataract and Fatigue

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Generalized hyperpigmentation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Anemia Pain Intellectual disability Congenital cataract Retinopathy Muscle weakness Dysphagia

Rare Symptoms - Less than 30% cases


Respiratory distress Depressivity Chronic kidney disease Anxiety Premature ovarian insufficiency Nephritis Dyspnea Fasciculations Photophobia Neoplasm Tubulointerstitial nephritis Slurred speech Hypokalemia Headache Congenital hepatic fibrosis Edema Hepatic fibrosis Ptosis Hematuria Proteinuria Pallor Increased serum ferritin Tremor Nausea Myopathy Visual loss Renal insufficiency Xerostomia Arthralgia Skeletal muscle atrophy Visual impairment Generalized muscle weakness Sensorineural hearing impairment Hearing impairment Dysphonia Stage 5 chronic kidney disease Scarring Seizures Nystagmus Ataxia Hyperreflexia Cerebral hemorrhage Chest pain Vocal cord paralysis Episodic abdominal pain Morphological abnormality of the semicircular canal Flushing Aniridia Sinus tachycardia Palpitations Hemangioma Cafe-au-lait spot Lentiglobus Paraganglioma Pheochromocytoma Hypercalcemia Raynaud phenomenon Neoplasm of the endocrine system Glomerulosclerosis Retinal dysplasia Tachycardia Polyuria Nyctalopia Hypermetropia Retinal degeneration Retinal dystrophy Nephropathy Renal cyst Progressive visual loss Involuntary movements Renal dysplasia Abnormality of retinal pigmentation Incoordination Polydipsia Cone-shaped epiphysis Diabetes insipidus Carcinoma Nephronophthisis High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Albuminuria Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Exudative retinopathy Congestive heart failure Hyperhidrosis Conductive hearing impairment Cranial nerve compression Elevated urinary dopamine Recurrent paroxysmal headache Thrombocytopenia Leukopenia Subcutaneous nodule Nephrotic syndrome Bilateral sensorineural hearing impairment Ichthyosis Dry skin Midface retrusion Tinnitus Myopia Metrorrhagia Onychomycosis Pituitary adenoma Adrenal hyperplasia Bipolar affective disorder Corneal dystrophy Macular dystrophy Telangiectasia of the skin Elliptocytosis Neoplasm of the colon Uterine neoplasm Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Periorbital edema Abdominal situs inversus Glomerulopathy Foam cells Corneal erosion Edema of the lower limbs Microscopic hematuria Diffuse glomerular basement membrane lamellation Hypoparathyroidism Aseptic necrosis Truncal obesity Renal artery stenosis Extraadrenal pheochromocytoma Failure to thrive Episodic hypertension Paroxysmal vertigo Positive regitine blocking test Paraganglioma of head and neck Elevated urinary epinephrine Episodic hyperhidrosis Osteoporosis Panic attack Hypertensive retinopathy Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Immunodeficiency Anterior lenticonus Menorrhagia Thin skin Acne Lipodystrophy Recurrent skin infections Venous thrombosis Generalized hirsutism Nephrolithiasis Diffuse leiomyomatosis Diabetes mellitus Psychosis Round face Recurrent fractures Sleep disturbance Bruising susceptibility Infertility Lethargy Elevated urinary norepinephrine Dystrophic fingernails Abnormality of the kidney Hepatic steatosis Brisk reflexes Ankle clonus Progressive gait ataxia Slow saccadic eye movements Saccadic smooth pursuit Dysmetric saccades Leg muscle stiffness Hypermetric saccades Downbeat nystagmus Abnormal enzyme/coenzyme activity Tortuosity of conjunctival vessels Arrhythmia Abnormality of the liver Cirrhosis Limitation of joint mobility EMG abnormality Osteoarthritis Joint dislocation Glucose intolerance Impotence Joint swelling Microcephaly Spasticity Areflexia Dementia Myoclonus Respiratory failure Skeletal dysplasia Paralysis Nausea and vomiting Macular degeneration Horizontal nystagmus Muscle cramps Gowers sign Fragile nails Elevated hepatic iron concentration Abnormal transferrin saturation Abnormal serum iron Cognitive impairment Obesity Acidosis Myalgia Hypertrophic cardiomyopathy Ophthalmoplegia Lactic acidosis Exercise intolerance External ophthalmoplegia Ragged-red muscle fibers Mitochondrial myopathy Truncal ataxia Retinal detachment Diplopia Limb ataxia Broad-based gait Intention tremor Generalized-onset seizure Progressive cerebellar ataxia Dysmetria Skeletal myopathy Intellectual disability, moderate Gait ataxia Pes cavus Intellectual disability, mild Cerebellar atrophy Dysarthria Neurodegeneration Tetraplegia Rod-cone dystrophy Dystrophic toenail Hypocalcemia Abnormality of the fingernails Abnormal intestine morphology Cachexia Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Colon cancer Sparse body hair Thromboembolism Abnormality of the vasculature Hypomagnesemia Hematochezia Clubbing of fingers Lymphedema Furrowed tongue Intestinal polyposis Protein-losing enteropathy Stomach cancer Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Global developmental delay Short stature Abnormality of the skeletal system Blindness Hyperpigmentation of the skin Anorexia Parkinsonism Functional respiratory abnormality Gliosis Neuronal loss in central nervous system Peripheral demyelination Sleep apnea Emotional lability Amyotrophic lateral sclerosis Agitation Bulbar palsy Muscle fibrillation Frontotemporal dementia Abnormal lower motor neuron morphology Degeneration of anterior horn cells Degeneration of the lateral corticospinal tracts Pseudobulbar paralysis Motor neuron atrophy Nail dysplasia Alopecia Tapered finger Abnormality of skin pigmentation Paresthesia Malabsorption Nail dystrophy Autoimmunity Splenomegaly Laryngospasm Diarrhea Macrocephaly Hepatomegaly Fatigable weakness of swallowing muscles Fatigable weakness of bulbar muscles Fatigable weakness of respiratory muscles Cylindruria



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