Autoimmunity, and Anorexia

Diseases related with Autoimmunity and Anorexia

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


Top matches:

Medium match IMMUNODEFICIENCY 27A; IMD27A


Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

IMMUNODEFICIENCY 27A; IMD27A Is also known as ifngr1 deficiency, autosomal recessive|immunodeficiency 27a, mycobacteriosis, autosomal recessive

Related symptoms:

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 27A; IMD27A

Medium 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

Medium match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

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Other less relevant matches:

Medium 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 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

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 CONGENITAL ISOLATED ACTH DEFICIENCY


Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (OMIM ). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (OMIM ), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).

CONGENITAL ISOLATED ACTH DEFICIENCY Is also known as adrenocorticotropic hormone deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Fatigue
  • Vomiting
  • Depressivity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ISOLATED ACTH DEFICIENCY

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Low match ACRODERMATITIS ENTEROPATHICA


Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA

Top 5 symptoms//phenotypes associated to Autoimmunity and Anorexia

Symptoms // Phenotype % cases
Weight loss Very Common - Between 80% and 100% cases
Fatigue Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Anorexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Lymphadenopathy Hepatomegaly Seizures Malabsorption Vomiting Pain Cataract Visual loss Alopecia Abdominal pain Migraine Headache Renal insufficiency Respiratory insufficiency Peripheral neuropathy Neoplasm Anemia Photophobia Memory impairment Abnormality of the liver Jaundice Congestive heart failure Depressivity Dystonia Visual impairment Stroke Vertigo Cognitive impairment Failure to thrive Gastrointestinal hemorrhage Myalgia Hearing impairment Growth delay Short stature Hyperreflexia Intellectual disability Blindness Glomerulopathy Pancreatitis Nausea and vomiting Dyspnea Hepatitis Erythema Nystagmus Cough Nausea Pulmonary infiltrates Muscle weakness Paresthesia

Rare Symptoms - Less than 30% cases


Scarring Hypoalbuminemia Hemiparesis Kyphosis Abnormal blistering of the skin Chest pain Confusion Hepatosplenomegaly Encephalopathy Hyperkalemia Retinopathy Irritability Psychosis Abnormality of the dentition Developmental regression Hyporeflexia Pulmonary arterial hypertension Type II diabetes mellitus Constipation Progressive sensorineural hearing impairment Behavioral abnormality Rod-cone dystrophy Gait disturbance Poor appetite Polyclonal elevation of IgM Adrenal insufficiency Aortic regurgitation Impaired lymphocyte transformation with phytohemagglutinin Optic atrophy Hypogonadotrophic hypogonadism Macular degeneration Global developmental delay Goiter Sensorineural hearing impairment Abnormality of retinal pigmentation Elevated erythrocyte sedimentation rate Feeding difficulties Motor delay Hypertension Paronychia Cerebral ischemia Hyponatremia Involuntary movements Pustule Tremor Left ventricular hypertrophy Pulmonary embolism Hemoptysis Pericarditis Chronic infection Aplasia/Hypoplasia of the cerebellum Chronic diarrhea Short neck Acne Respiratory distress Cardiomyopathy Growth hormone deficiency Dilatation Monoclonal immunoglobulin M proteinemia Dilated cardiomyopathy Pallor Proteinuria Specific learning disability Hyperpigmentation of the skin Hyperhidrosis Cachexia Posterior subcapsular cataract Glossitis Dry skin Nyctalopia Pruritus Polyneuropathy Tubulointerstitial nephritis Furrowed tongue Generalized tonic-clonic seizures Ophthalmoplegia Nephropathy Xerostomia Carious teeth Delayed puberty Hirsutism Retinal pigment epithelial atrophy Leukemia Generalized hirsutism Lymphoma Cranial nerve paralysis Myoclonus Hypogonadism Primary adrenal insufficiency Reduced consciousness/confusion Diabetes mellitus Cerebral cortical atrophy Autism Hypothyroidism Neonatal hypoglycemia Pleural effusion Pigmentary retinopathy Raynaud phenomenon Vasculitis Pneumonia Purpura Gastroesophageal reflux Pericardial effusion Polydipsia Nephritis Impaired vibratory sensation Progressive night blindness Hydroureter Portal hypertension Cochlear degeneration Abnormal mitochondrial shape Polyuria Bronchitis Paralytic ileus Lipodystrophy Hyperostosis Hyperinsulinemia Cochlear malformation Glycosuria Polyphagia Chorioretinal atrophy Edema of the dorsum of hands Obsessive-compulsive behavior Hyperglycemia Truncal obesity Constriction of peripheral visual field Short finger Glucose intolerance Pulmonary fibrosis Urinary urgency Emphysema Chronic otitis media Diabetes insipidus Agenesis of permanent teeth Abnormal retinal morphology Respiratory failure Precocious puberty Hepatic steatosis Cirrhosis Delayed speech and language development Strabismus Scoliosis Tachycardia Hepatic failure Retinal dystrophy Sleep disturbance Stage 5 chronic kidney disease Ascites Abdominal distention Asthma Vesicoureteral reflux Urinary incontinence Round face Prominent ear helix Obesity Clinodactyly Decreased testicular size Respiratory tract infection Kyphoscoliosis Pes planus Deeply set eye Elevated hepatic transaminase Conductive hearing impairment Abnormality of the kidney Postnatal growth retardation Autistic behavior Patent ductus arteriosus Sparse hair Hypotrichosis Hypermetropia Pulmonic stenosis Infertility Retinal degeneration Polydactyly Recurrent respiratory infections Otitis media Morphological abnormality of the inner ear Elevated alkaline phosphatase Acanthosis nigricans Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Increased body weight Nephrocalcinosis Absence seizures Accelerated skeletal maturation Atherosclerosis Gynecomastia Hyperlipidemia Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Polycystic ovaries Abnormality of the hand Cholelithiasis Short toe Sinusitis Morphological abnormality of the vestibule of the inner ear Cardiomegaly Progressive visual loss Bilateral intracranial calcifications Cyanosis Hyperuricemia Episodic quadriplegia Abnormality of acid-base homeostasis Optic disc pallor Epidermal acanthosis Hepatic fibrosis Homonymous hemianopia Hypertriglyceridemia Recurrent otitis media Recurrent urinary tract infections Abnormal cochlea morphology Thickened skin Insulin resistance Hyperkeratosis Decreased liver function Decreased HDL cholesterol concentration Increased number of teeth EEG with occipital slowing Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females Abnormality of prothrombin Thickened ears Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Hypoglycemia Hypotension Dilatation of the bladder Granular macular appearance Adrenal hypoplasia Multifocal atrial tachycardia Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Childhood-onset truncal obesity Receptive language delay High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Prolonged neonatal jaundice Decreased circulating cortisol level Squared iliac bones Blepharitis Cellular immunodeficiency Lung adenocarcinoma Skin ulcer Abnormality of the nail Conjunctivitis Emotional lability Abnormal eyebrow morphology Osteolysis Abnormal eyelid morphology Corneal erosion Ridged nail Abnormality of the tongue Cheilitis Ridged fingernail Hodgkin lymphoma Bone marrow hypocellularity Adrenocorticotropic hormone deficiency Peripheral demyelination Fasting hypoglycemia Hypoglycemic seizures Adrenocorticotropin deficient adrenal insufficiency Abnormality of the nervous system Abnormality of the eye Abnormality of eye movement Dysdiadochokinesis Bone pain Gout CNS demyelination Homocystinuria Hypertyrosinemia Hypermethioninemia Halitosis Skin rash Urethral obstruction Renovascular hypertension Subcapsular cataract Chronic fatigue Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic obstructive pulmonary disease Elevated serum creatinine Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Menstrual irregularities Abnormal renal morphology Acute hepatic failure Right ventricular hypertrophy Disinhibition Peripheral visual field loss Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Alopecia of scalp Attenuation of retinal blood vessels Hyperventilation Poor coordination Oligomenorrhea Broad foot Ketoacidosis Gingivitis Pendular nystagmus Endocardial fibroelastosis Abnormal renal physiology Albuminuria Lumbar scoliosis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Abnormality of the urethra Abnormality of dental color Frontal balding Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Hematemesis Increased total bilirubin Abnormal left ventricle morphology Pyelonephritis Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Chills Vertical nystagmus Acute pancreatitis Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Abnormal mitochondrial morphology Hemiplegia/hemiparesis Spotty hypopigmentation Myositis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Gangrene Posterior uveitis Uveitis Aseptic necrosis Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Rheumatoid arthritis Encephalitis Increased intracranial pressure Venous thrombosis Meningitis Subcutaneous nodule Mitral regurgitation Myocardial infarction Anterior uveitis Iridocyclitis Abnormal pyramidal sign Dysphagia Acidosis Gait ataxia Osteoporosis Dementia Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Cerebral atrophy Hypertonia Cerebellar atrophy Myopathy Ventriculomegaly Skeletal muscle atrophy Increased inflammatory response Dysarthria Ptosis Muscular hypotonia Hypertelorism Microcephaly Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Papule Joint stiffness Anxiety Nail dystrophy Generalized hyperpigmentation Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypokalemia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Lymphedema Nail dysplasia Tapered finger Abnormality of skin pigmentation Edema Abnormality of the vasculature Macrocephaly Abnormal bronchus physiology Enlarged mesenteric lymph node Salmonella osteomyelitis Rheumatoid factor positive Hypoplasia of the femoral head Increased IgG level Increased IgM level Histiocytosis Night sweats Abnormality of abdomen morphology Thrombocytosis Leukocytosis Immunodeficiency Thromboembolism Hypomagnesemia Arthritis Cutis marmorata Arthralgia Reduced visual acuity Glaucoma Cryoglobulinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Periorbital edema Abnormality of the retinal vasculature Lymphoproliferative disorder Hypercoagulability Edema of the lower limbs Gingival bleeding Urticaria Hematochezia Epistaxis Proptosis Recurrent infections Decreased taste sensation Gastrointestinal carcinoma Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Clubbing of fingers Dystrophic toenail EEG abnormality Hypertrophic cardiomyopathy Abnormal macular morphology Distal arthrogryposis Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Vitiligo Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Abnormality of immune system physiology Visual hallucinations Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Dysphasia Vestibular dysfunction Aphasia Bundle branch block Overlapping toe Abnormality of neuronal migration Renal tubular dysfunction Increased CSF lactate Mask-like facies Muscle fiber atrophy Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Wolff-Parkinson-White syndrome Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Focal segmental glomerulosclerosis Bifid scrotum Apnea Coma Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Hip dysplasia Increased serum lactate Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Polymicrogyria Ventricular hypertrophy Lactic acidosis Peripheral axonal neuropathy Ichthyosis Dysmetria Anal atresia Congenital cataract Arthrogryposis multiplex congenita Lethargy Neurological speech impairment Attention deficit hyperactivity disorder Protruding ear Abnormality of the pinna Feeding difficulties in infancy Mental deterioration Status epilepticus Atrial fibrillation Intestinal obstruction Mutism Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Hypopigmented skin patches Hypertrichosis Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Exercise intolerance Type I diabetes mellitus EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Decreased body weight Generalized abnormality of skin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Cone/cone-rod dystrophy, related diseases and genetic alterations

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