Autoimmunity, and Alopecia

Diseases related with Autoimmunity and Alopecia

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


Top matches:

Low match VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1


Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease SusceptibilityAdditional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, {607836}, associated with mutation in the FOXD3 gene, {611539}), 7 (VAMAS3 ), 8 (VAMAS4 ), 4 (VAMAS5 ), and 6p21.3 (VAMAS6 ).

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Is also known as vtlg|vitiligo|slev1|systemic lupus erythematosus, vitiligo-related

Related symptoms:

  • Anemia
  • Alopecia
  • Autoimmunity
  • Nevus
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1

Low match TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY


TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

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Other less relevant matches:

Low match IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY


Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

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 SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME


Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Alopecia

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Vitiligo Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Psoriasiform dermatitis Autoimmune hemolytic anemia Recurrent respiratory infections Decreased antibody level in blood Autoimmune thrombocytopenia Seizures Fatigue Thyroiditis Diarrhea Inflammatory abnormality of the skin Alopecia areata Hemolytic anemia

Rare Symptoms - Less than 30% cases


Increased antibody level in blood Abnormal intestine morphology Type I diabetes mellitus Hashimoto thyroiditis Antinuclear antibody positivity Glomerulonephritis Splenomegaly Alopecia totalis Growth hormone deficiency Bronchiectasis Purpura Diabetes mellitus Global developmental delay Thrombocytopenia Respiratory tract infection Failure to thrive Immune dysregulation Dysgammaglobulinemia IgA deficiency Hepatosplenomegaly Systemic lupus erythematosus Lymphadenopathy Hepatomegaly Abnormality of the vasculature Clubbing of fingers Hypomagnesemia Xerostomia Hematochezia Dystrophic toenail Thromboembolism Respiratory insufficiency Dystrophic fingernails Furrowed tongue Intestinal polyposis Protein-losing enteropathy Stomach cancer Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Generalized hyperpigmentation Clubbing Sparse body hair Nail dysplasia Edema Vomiting Abdominal pain Weight loss Malabsorption Paresthesia Abnormality of skin pigmentation Tapered finger Anorexia Colon cancer Lymphedema Hyperpigmentation of the skin Hypocalcemia Abnormality of the fingernails Cachexia Hypokalemia Hypoalbuminemia Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Short stature Arthritis Cognitive impairment Decreased circulating cortisol level Diplopia Recurrent pneumonia Absence seizures Recurrent upper respiratory tract infections Hyponatremia Hyperkalemia Recurrent sinusitis Recurrent bronchitis Recurrent hypoglycemia Autoimmune antibody positivity Hypotension Recurrent pharyngitis Decreased circulating ACTH level Hypoglycemic coma Adrenocorticotropin deficient adrenal insufficiency Decreased serum insulin-like growth factor 1 Severe viral infections Abnormal lymphocyte morphology Decreased circulating androgen level Abnormal size of pituitary gland Severe B lymphocytopenia Recurrent otitis media Sepsis Midface retrusion Rheumatoid arthritis Macrocephaly Skin rash Abnormality of the skin Memory impairment Psychosis Cutaneous photosensitivity Vasculitis Leukopenia Nephritis Abnormality of coagulation Serositis Abnormality of the thyroid gland Pericarditis Aseptic necrosis Epiphyseal stippling Gangrene Raynaud phenomenon Pleuritis Antiphospholipid antibody positivity Complement deficiency Malar rash Nevus Central adrenal insufficiency Cataract Otitis media Polyhydramnios Sparse hair Abdominal distention Intestinal malrotation Hepatitis Omphalocele Thickened skin Absent eyebrow Alopecia of scalp Intrauterine growth retardation Severe combined immunodeficiency Hypoplasia of the thymus Intestinal atresia Ectopic calcification Bloody diarrhea Rectal abscess Jejunoileal ulceration Gastrointestinal atresia Congenital cystic adenomatoid malformation of the lung Ventricular septal defect Chronic hemolytic anemia Abnormality of the ductus choledochus Lymphoma Hypothyroidism Eczema Recurrent sinopulmonary infections Abnormal lung morphology Chronic diarrhea Chronic obstructive pulmonary disease Recurrent bacterial infections Inflammation of the large intestine Recurrent skin infections Iron deficiency anemia Granulocytopenia Atopic dermatitis Gingivitis Esophagitis Chronic lung disease Recurrent viral infections Villous atrophy Decrease in T cell count Bronchiolitis Recurrent fungal infections Peritoneal abscess Recurrent abscess formation Pain Spotty hyperpigmentation Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Spasticity Gait disturbance Dysphagia Hypoglycemia Asthma Sinusitis Lymphocytosis Meningitis Adrenal insufficiency Peptic ulcer Chronic sinusitis Adrenocorticotropic hormone deficiency Pneumonia Trachyonychia Neoplasm Muscle weakness Membranoproliferative glomerulonephritis Progeroid facial appearance Intellectual disability Nephrotic syndrome Hearing impairment Hypertension Myopathy Arthralgia Proteinuria Hirsutism Hepatic steatosis Hematuria Nephropathy Hypertriglyceridemia Microscopic hematuria Hypertrichosis Insulin resistance Generalized hirsutism Polycystic ovaries Lipodystrophy Premature ovarian insufficiency Lipoatrophy Glomerulopathy Abnormality of lipid metabolism Abnormality of the periungual region



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