Fever, and Macular degeneration

Diseases related with Fever and Macular degeneration

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

Top matches:

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Other less relevant matches:

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Macular degeneration

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Visual impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Macular degeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hearing impairment Failure to thrive Peripheral neuropathy Gait disturbance Edema Pain Generalized hypotonia Tremor Nystagmus Microcephaly Cataract Optic atrophy Visual loss Dysphasia Malabsorption Atrioventricular block Paresthesia Abnormality of the dentition Stroke Peripheral demyelination Areflexia Headache Muscular hypotonia Hepatomegaly Skeletal muscle atrophy Fatigue Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Drowsiness Optic neuropathy Erythema Developmental regression Mental deterioration Anxiety Photophobia Jaundice Gait ataxia Rod-cone dystrophy Hyporeflexia Abnormality of movement Psychotic episodes Thrombocytopenia Encephalopathy Heart block Nyctalopia Depressivity Skin ulcer Renal insufficiency Retinal degeneration Juvenile rheumatoid arthritis Macular edema Dystonia Hypertonia Papule Rheumatoid arthritis Diarrhea Abnormality of skin pigmentation Pallor Vomiting Abnormality of the liver Generalized tonic-clonic seizures Increased bone mineral density Blindness Hemiplegia Decreased nerve conduction velocity Reduced tendon reflexes Neoplasm Strabismus Immunodeficiency Recurrent infections Visual hallucinations Hallucinations Abnormality of retinal pigmentation Involuntary movements Hemiparesis Psychosis Status epilepticus Auditory hallucinations Hypopigmentation of the skin Hyperpigmentation of the skin Migraine Abnormal cerebellum morphology Coma Polyneuropathy Retinal pigment epithelial atrophy Nausea Peripheral axonal neuropathy Confusion Uveitis Hypodontia Skin rash Nausea and vomiting Spasticity Arthritis Wolff-Parkinson-White syndrome Cardiomyopathy EEG abnormality Congestive heart failure Abnormality of metabolism/homeostasis Gastroesophageal reflux Dysphagia Respiratory insufficiency Myalgia Atherosclerosis Myopathy Hypertrophic cardiomyopathy Stroke-like episode Dyspnea Abnormality of the cardiovascular system Splenomegaly Feeding difficulties Arrhythmia Acidosis EMG abnormality Ventricular hypertrophy Growth delay Hypertension Muscle weakness Type II diabetes mellitus Motor delay Short stature Cognitive impairment Difficulty walking Recurrent respiratory infections Ptosis Elevated serum creatine phosphokinase Joint swelling Abducens palsy Granulomatosis Flexion contracture of toe Synovitis Cystoid macular edema Abnormality of the ear Abnormal cranial nerve morphology Recurrent cutaneous abscess formation Abnormal joint morphology Band keratopathy Bradykinesia Anterior uveitis Aciduria Raynaud phenomenon Abnormal leukocyte morphology Acrocyanosis Gangrene Pathologic fracture Cutis marmorata Nephrocalcinosis Bone pain Nephrolithiasis Recurrent urinary tract infections Progressive visual loss Metabolic acidosis Posterior uveitis Hematuria Stage 5 chronic kidney disease Retinopathy Abnormality of the skeletal system Nongranulomatous uveitis Intermittent generalized erythematous papular rash Tendonitis Panuveitis Large vessel vasculitis Iritis Iridocyclitis Increased antibody level in blood Autoimmunity Hypercalcemia Photoreceptor layer loss on macular OCT Abnormality of the coagulation cascade Chronic diarrhea Hepatic steatosis Hepatic failure Carcinoma Transient unilateral blurring of vision Dyscalculia Migraine with aura Agitation Ring scotoma Acanthocytosis Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Poikilocytosis Anisocytosis Retinal atrophy Optic disc pallor Recurrent systemic pyogenic infections Renal cell carcinoma Fat malabsorption Vasculitis Multifocal seizures Giant melanosomes in melanocytes Subcutaneous nodule Inflammatory abnormality of the skin Eczema Camptodactyly of finger Camptodactyly Glaucoma Flexion contracture Focal clonic seizures Choreoathetosis Hypocholesterolemia Cyanosis Epileptic encephalopathy Abnormality of multiple cell lineages in the bone marrow Abnormality of eye movement Muscular hypotonia of the trunk Absent speech Steatocystoma multiplex Increased HDL cholesterol concentration Abetalipoproteinemia Decreased LDL cholesterol concentration Peripheral arterial stenosis Decreased glomerular filtration rate Dysuria Nail pits Rigidity Hepatosplenomegaly Reduced visual acuity Atrial septal defect Atrophic, patchy alopecia Sensory axonal neuropathy Resting tremor Generalized hyperpigmentation Retinal vascular proliferation Hyperpigmented streaks Retinal hemorrhage Albinism Hypopigmentation of hair Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Gingival bleeding Iris hypopigmentation Generalized osteosclerosis Thick nail Ridged nail Cerebral hemorrhage Melanocytic nevus Periodontitis Parkinsonism Pancytopenia Epistaxis Cutaneous photosensitivity Gastrointestinal hemorrhage Hypertriglyceridemia Lymphoma Amblyopia Foot dorsiflexor weakness Leukopenia Brain atrophy Abnormal bleeding Abnormality of the eye Cranial nerve paralysis Neutropenia Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Lymphadenopathy Paraplegia Abnormality of vision Spastic paraplegia Leukemia Gingivitis Conical tooth Calcinosis Abnormality of circulating enzyme level Kyphoscoliosis Hyperkeratosis Partial albinism Macular hypoplasia Alopecia Recurrent bacterial skin infections Microphthalmia Oculogyric crisis Retinal crystals Bladder stones Arterial occlusion Scarring Calcinosis cutis Hypofibrinogenemia Hyperoxaluria Calcium oxalate nephrolithiasis Flank pain Intermittent claudication Abnormality of extrapyramidal motor function Choroidal neovascularization Chills Pyelonephritis Enuresis Sparse hair Hypersplenism Anodontia Hemivertebrae Hypoplasia of the fovea Abnormality of the vasculature Fair hair Hypoplastic nipples Generalized hypopigmentation Supernumerary nipple Hyperostosis White hair Keratitis Coarse hair Eosinophilia Lymphedema Nail dystrophy Fine hair Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Nevus Tetraplegia Spinocerebellar tract degeneration Delayed eruption of teeth Hemophagocytosis Retinal detachment Progressive peripheral neuropathy Pustule Tubulointerstitial nephritis Myopia Delayed puberty Muscle cramps Postural instability Nephropathy Hirsutism Polymicrogyria Lactic acidosis Vertigo Ichthyosis Dysmetria Anal atresia Carious teeth Sudden cardiac death Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Pruritus Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Protruding ear Abnormality of the pinna Feeding difficulties in infancy Generalized myoclonic seizures Sensory impairment Proteinuria Decreased body weight Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Gingival overgrowth Anorexia Left ventricular hypertrophy Hypertrichosis Increased serum lactate Atrial fibrillation Pulmonary arterial hypertension Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Apnea Hypothyroidism Pancreatitis Urinary incontinence Dilatation of the cerebral artery Difficulty running Exertional dyspnea Emphysema Nasal speech Delayed gross motor development Respiratory insufficiency due to muscle weakness Scapular winging Aspiration Progressive muscle weakness Cardiomegaly Macroglossia Pelvic girdle muscle weakness Generalized muscle weakness Limb muscle weakness Muscular dystrophy Paralysis Proximal muscle weakness Conductive hearing impairment Hypoglycemia Osteopenia Respiratory failure Dilatation Scoliosis Progressive proximal muscle weakness Diaphragmatic paralysis Autism Cerebral atrophy Weight loss Cerebral cortical atrophy Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Dementia Cerebellar hypoplasia Constipation Delayed skeletal maturation Kyphosis Increased muscle fatiguability Respiratory distress Short neck Ventriculomegaly Dysarthria Hyperreflexia Sensorineural hearing impairment Hypertelorism Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Purpura External ophthalmoplegia Prominent ear helix Abnormality of peripheral nerve conduction Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Speech apraxia Leber optic atrophy Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Increased CSF lactate Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Persistence of primary teeth Spontaneous hematomas Transient ischemic attack Cochlear malformation Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Edema of the dorsum of hands Gastroparesis Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Amaurosis fugax Delusions Posterior subcapsular cataract Ragged-red muscle fibers Aortic aneurysm Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Bilateral ptosis Adrenal insufficiency Hypercalciuria Cachexia Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Overlapping toe Bundle branch block Progressive external ophthalmoplegia Abnormality of immune system physiology Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Thyroiditis Aphasia Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Generalized hypopigmentation of hair


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Atopic dermatitis, related diseases and genetic alterations Fever and Spastic tetraplegia, related diseases and genetic alterations