Autoimmunity, and Rod-cone dystrophy

Diseases related with Autoimmunity and Rod-cone dystrophy

In the following list you will find some of the most common rare diseases related to Autoimmunity and Rod-cone dystrophy that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low 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

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Other less relevant matches:

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

Low match RETINITIS PIGMENTOSA 40; RP40


Related symptoms:

  • Rod-cone dystrophy
  • Abnormal light- and dark-adapted electroretinogram


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 40; RP40

Low match BARDET-BIEDL SYNDROME 14; BBS14


BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Obesity
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

Low match DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A


DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A Is also known as deafness, autosomal recessive 18|dfnb18

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A

Low match DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15


This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011).

DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 Is also known as deafness, autosomal recessive 72|dfnb72|deafness, autosomal recessive 95|dfnb95

Related symptoms:

  • Hearing impairment
  • Rod-cone dystrophy
  • Vestibular dysfunction
  • Severe hearing impairment


SOURCES: MESH OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15

Top 5 symptoms//phenotypes associated to Autoimmunity and Rod-cone dystrophy

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Otitis media Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Rod-cone dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatitis Chronic diarrhea Sinusitis Hypopigmented skin patches Seizures Cataract Constipation Vomiting Retinopathy Hypogonadism Diabetes mellitus Hypothyroidism Abnormality of the liver Nausea Pigmentary retinopathy Intellectual disability Global developmental delay Malabsorption Photophobia Failure to thrive Alopecia Depressivity Diarrhea Ataxia Fatigue Encephalopathy Weight loss Anemia

Rare Symptoms - Less than 30% cases


Dyspnea Gastroesophageal reflux Vitiligo Autism Glomerulopathy Pancreatitis Hypoparathyroidism Progressive sensorineural hearing impairment Jaundice Primary adrenal insufficiency Thyroiditis Abdominal pain Macular degeneration Proteinuria Adrenal insufficiency Diabetes insipidus Constriction of peripheral visual field Cholelithiasis Type I diabetes mellitus Hypergonadotropic hypogonadism Skin rash Generalized hirsutism Myalgia Female hypogonadism Myoclonus Feeding difficulties Respiratory insufficiency Cardiomyopathy Blindness Congestive heart failure Optic atrophy Abnormality of the dentition Dystonia Hepatomegaly Peripheral neuropathy Hypertension Motor delay Cognitive impairment Vestibular dysfunction Kyphosis Pain Renal insufficiency Nystagmus Aplasia/Hypoplasia of the cerebellum Growth delay Specific learning disability Visual loss Chronic active hepatitis Hyporeflexia Goiter Cerebral calcification Hypogonadotrophic hypogonadism Short neck Anorexia Retinal pigment epithelial atrophy Tubulointerstitial nephritis Obesity Dilated cardiomyopathy Pulmonary arterial hypertension Recurrent pneumonia Generalized tonic-clonic seizures Left ventricular hypertrophy Type II diabetes mellitus Muscle cramps Hypocalcemia Ophthalmoplegia Carious teeth Bronchitis Delayed puberty Involuntary movements Chronic otitis media Pneumonia Abnormality of retinal pigmentation Recurrent urinary tract infections Posterior subcapsular cataract Delayed speech and language development Nausea and vomiting Hypotrichosis Fever Pallor Nephropathy Nyctalopia Respiratory distress Myopathy Dilatation Decreased antibody level in blood Dementia Hirsutism Cyanosis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Abnormality of the hand Lipodystrophy Polycystic ovaries Cardiomegaly Optic disc pallor Cone/cone-rod dystrophy Increased body weight Tachypnea Acanthosis nigricans Horizontal nystagmus Short toe Nephrocalcinosis Nephritis Polydipsia Portal hypertension Absence seizures Accelerated skeletal maturation Atherosclerosis Epidermal acanthosis Gynecomastia Hyperpigmentation of the skin Hepatic fibrosis Hyperlipidemia Decreased liver function Thickened skin Hypercholesterolemia Recurrent otitis media Hypertriglyceridemia Insulin resistance Hypermetropia Progressive visual loss Behavioral abnormality Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Scoliosis Strabismus Splenomegaly Abnormality of acid-base homeostasis Clinodactyly Patent ductus arteriosus Recurrent respiratory infections Hyperhidrosis Polydactyly Respiratory failure Episodic quadriplegia Homonymous hemianopia Kyphoscoliosis Paronychia Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Abnormal mitochondrial morphology Abnormal cochlea morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Hyperkeratosis Pes planus Decreased testicular size Ascites Cirrhosis Tachycardia Hepatic failure Retinal dystrophy Hepatic steatosis Sleep disturbance Abdominal distention Lymphadenopathy Asthma Vesicoureteral reflux Urinary incontinence Round face Gastrointestinal hemorrhage Growth hormone deficiency Stage 5 chronic kidney disease Retinal degeneration Hepatosplenomegaly Respiratory tract infection Deeply set eye Elevated hepatic transaminase Conductive hearing impairment Abnormality of the kidney Irritability Postnatal growth retardation Autistic behavior Dry skin Sparse hair Scarring Cough Impaired vibratory sensation Pulmonic stenosis Infertility Obsessive-compulsive behavior Right ventricular hypertrophy Acne Decreased glomerular filtration rate Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Abnormality of the optic disc Abnormality of the pituitary gland First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Urethral obstruction Hypoplastic male external genitalia Pyelonephritis Dilatation of the bladder Abnormal light- and dark-adapted electroretinogram Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Thickened ears Hepatic necrosis Granular macular appearance Receptive language delay Hyperostosis frontalis interna Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Chills Poor fine motor coordination Hyperostosis Glycosuria Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Agenesis of permanent teeth Oligomenorrhea Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Hyperglycemia Poor coordination Broad foot Urinary retention Restrictive cardiomyopathy Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Esophageal varix Ketoacidosis Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Renal Fanconi syndrome Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Tubulointerstitial abnormality Dysphasia Abnormal nerve conduction velocity Hyperreflexia Arrhythmia Cerebral atrophy Headache Hypertonia Cerebellar atrophy Ventriculomegaly Dysphagia Gait disturbance Tremor Skeletal muscle atrophy Dysarthria Ptosis Elevated serum creatine phosphokinase Muscular hypotonia Muscle weakness Hypertelorism Microcephaly Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Chronic hepatitis Alopecia areata Keratoconjunctivitis Areflexia Delayed skeletal maturation Central diabetes insipidus Erythema Ichthyosis Confusion Paresthesia Dysmetria Anal atresia Congenital cataract Arthrogryposis multiplex congenita Lethargy Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Protruding ear Cerebellar hypoplasia Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Anxiety EEG abnormality Acidosis Gait ataxia Cerebral cortical atrophy Osteoporosis Gastritis Alopecia universalis Peripheral axonal neuropathy Conjunctivitis Thymoma Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Cellulitis Osteomyelitis Rheumatoid arthritis Encephalitis Recurrent skin infections Recurrent bacterial infections Recurrent cutaneous abscess formation Meningitis Lymphopenia Skin ulcer Telangiectasia Abnormal lung morphology Sepsis Neutropenia Arthritis Thrombocytopenia Recurrent infections Immunodeficiency Neoplasm Pyoderma Septic arthritis Decreased circulating aldosterone level Abnormality of the thyroid gland Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Antinuclear antibody positivity Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Metaphyseal dysplasia Macular atrophy Opacification of the corneal stroma Abnormality of the tonsils Abnormality of the fingernails Hypoplasia of dental enamel Dehydration Hypotension Rigidity Reduced visual acuity Abnormal facial shape Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Vertigo Lactic acidosis Auditory hallucinations Drowsiness Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Aortic dissection Pulmonary embolism Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Aphasia Bundle branch block Facial diplegia Renal tubular dysfunction Abnormality of neuronal migration Hemianopia Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Visual hallucinations Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Overlapping toe Focal segmental glomerulosclerosis Polymicrogyria Generalized-onset seizure Cerebral visual impairment Hallucinations Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Cardiac arrest Amenorrhea Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Clonus Truncal ataxia Hemiplegia/hemiparesis Cachexia Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Atrioventricular block EMG abnormality Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Purpura Exercise intolerance Severe hearing impairment



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