Autoimmunity, and Scarring

Diseases related with Autoimmunity and Scarring

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


Top matches:

Low match BIRDSHOT CHORIORETINOPATHY


Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

BIRDSHOT CHORIORETINOPATHY Is also known as birdshot retinochoroidopathy|birdshot retinochoroiditis|birdshot chorioretinitis|bscr|vitiliginous choroiditis

Related symptoms:

  • Cataract
  • Visual impairment
  • Blindness
  • Visual loss
  • Photophobia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRDSHOT CHORIORETINOPATHY

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

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Other less relevant matches:

Low match STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

Low match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Scarring

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Antinuclear antibody positivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thyroiditis Hepatitis Atrophic scars Visual impairment Confusion Diarrhea Hypertension Edema Vasculitis Growth delay Anemia

Rare Symptoms - Less than 30% cases


Portal hypertension Abnormality of the thyroid gland Combined immunodeficiency Increased IgA level Hypoalbuminemia Celiac disease Neoplasm Arthritis Headache Muscle weakness Cutis marmorata Hepatocellular carcinoma Tremor Depressivity Lymphopenia Memory impairment Cholangitis Cholestatic liver disease Nail dystrophy Erythema Failure to thrive Hepatic fibrosis Pes planus Cholestasis Weight loss Hepatosplenomegaly Visual loss Photophobia Hemolytic anemia Splenomegaly Inflammation of the large intestine Type I diabetes mellitus Autoimmune hemolytic anemia Keratoconjunctivitis sicca Fatigue Encephalopathy Abdominal distention Jaundice Short stature Arthralgia Ascites Thrombocytosis Immunodeficiency Abnormality of the liver Myalgia Uveitis Cirrhosis Pruritus Umbilical hernia Micrognathia Flexion contracture Abnormality of the dentition Inguinal hernia Recurrent infections Scoliosis Carious teeth Abnormality of the intrahepatic bile duct Dermatographic urticaria Hernia Dilatation Joint laxity Cataract Increased IgM level Hepatic failure Ectopic calcification Duodenal stenosis Bloody diarrhea Microcolon Rectal abscess Jejunal atresia Gastrointestinal atresia Decreased proportion of CD8-positive T cells Jejunoileal ulceration Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Abnormality of the ductus choledochus Malabsorption Sleep disturbance Gastrointestinal inflammation Hyperpigmentation of the skin Elevated alkaline phosphatase Orthostatic hypotension Osteomalacia Joint hyperflexibility Xerostomia Excessive daytime somnolence Allergy Conjugated hyperbilirubinemia Biliary cirrhosis Fat malabsorption Hepatic encephalopathy Recurrent fungal infections Onychomycosis Abnormality of lipid metabolism Hoarse voice Arachnodactyly Elevated hepatic transaminase Acute hepatic failure Amyloidosis Generalized amyotrophy Pleural effusion Cholelithiasis Pancreatitis Osteopenia Prolonged prothrombin time Abdominal pain Renal insufficiency Congestive heart failure Hepatomegaly Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Ulcerative colitis Histiocytosis Gingival recession Palmar telangiectasia Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Abnormal biliary tract morphology Vitamin D deficiency Chronic hepatic failure Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Intestinal perforation Premature loss of permanent teeth Joint hypermobility Gingival overgrowth Dermal atrophy Hyperextensible skin Cutis laxa Osteolysis Joint dislocation Hypoplasia of the thymus Tall stature Hypermelanotic macule Mitral regurgitation Thin skin Osteoarthritis Fine hair Blue sclerae Microdontia Bruising susceptibility Urticaria Agenesis of permanent teeth Palmoplantar cutis laxa Gingivitis Cigarette-paper scars Poor wound healing Premature loss of primary teeth Chronic pain Mitral stenosis Generalized joint laxity Periodontitis Soft skin Long nose Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Intestinal atresia Abnormality of the skeletal system Duodenal atresia Paresthesia Emotional lability Incoordination Hyperkinesis Muscle stiffness Diplopia Urinary incontinence Difficulty walking CNS demyelination Constipation Hyperreflexia Spasticity Nystagmus Hearing impairment Lymphadenitis Brain neoplasm Urinary hesitancy Recurrent viral infections Pulmonary fibrosis Myositis Raynaud phenomenon Pustule Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Increased antibody level in blood Tachypnea Recurrent respiratory infections Leukopenia Telangiectasia Decreased body weight Abnormal lung morphology Skin rash Joint stiffness Periorbital edema Episodic fever Follicular hyperplasia Attenuation of retinal blood vessels Retinal thinning Cystoid macular edema Choroidal neovascularization Inflammatory abnormality of the eye Retinal pigment epithelial atrophy Abnormality of the retinal vasculature Increased intraocular pressure Posterior uveitis Abnormal retinal morphology Blurred vision Optic disc pallor Retinal detachment Nyctalopia Blindness Abnormal chorioretinal morphology Macular scar Subcutaneous nodule Global developmental delay Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Clinodactyly Thrombocytopenia Brachydactyly Arcuate scotoma Epiretinal membrane Blind-spot enlargment Photoreceptor layer loss on macular OCT Macular hole Vitritis Abnormal choroid morphology Vitreous floaters Low-grade fever Malar rash Hematochezia Arterial stenosis Intrauterine growth retardation Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Hemianopia Alopecia Cerebral ischemia Facial paralysis Peripheral arterial stenosis Arteriovenous malformation Acrocyanosis Transient ischemic attack Ventricular septal defect Polyhydramnios Aphasia Abnormal intestine morphology Abnormality of abdomen morphology Severe combined immunodeficiency Alopecia of scalp Hashimoto thyroiditis Absent eyebrow Psoriasiform dermatitis Thickened skin Sparse hair Omphalocele Decreased antibody level in blood Intestinal malrotation Sepsis Anal atresia Small for gestational age Visual field defect Heart murmur Fasciitis Keratitis Punctate keratitis Comedo Polyarticular arthritis Corneal neovascularization Villous atrophy Follicular hyperkeratosis Chronic diarrhea Dysarthria Epidermal acanthosis Dry skin Papule Hyperkeratosis Hyperhidrosis Respiratory insufficiency Motor delay Behavioral abnormality Personality changes Chorea Intracranial hemorrhage Hemiplegia Systemic lupus erythematosus Hemiparesis Myocardial infarction Migraine Nephropathy Dementia Vertigo Stroke Paralysis Developmental regression Mental deterioration Facial palsy Adenocarcinoma of the large intestine



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