Autoimmunity, and Nail dystrophy

Diseases related with Autoimmunity and Nail dystrophy

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


Top 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 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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 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

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 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8


This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (OMIM ) or transient bullous dermolysis of the newborn (OMIM ), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 Is also known as toenail dystrophy, isolated

Related symptoms:

  • Nail dystrophy
  • Fragile skin


SOURCES: OMIM MESH MENDELIAN

More info about NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8

Low match EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS


EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS Is also known as epidermolysis bullosa dystrophica, bart type

Related symptoms:

  • Nail dystrophy
  • Nail dysplasia
  • Fragile skin
  • Congenital localized absence of skin


SOURCES: MESH OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Top 5 symptoms//phenotypes associated to Autoimmunity and Nail dystrophy

Symptoms // Phenotype % cases
Psoriasiform dermatitis Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scarring

Rare Symptoms - Less than 30% cases


Ectopic calcification Gastrointestinal atresia Jejunoileal ulceration Rectal abscess Bloody diarrhea Severe combined immunodeficiency Intestinal atresia Hypoplasia of the thymus Peritoneal abscess Alopecia of scalp Hashimoto thyroiditis Autoimmune hemolytic anemia Absent eyebrow Congenital cystic adenomatoid malformation of the lung Growth delay Abnormality of the ductus choledochus Diarrhea Fragile skin Thyroiditis Sepsis Hematochezia Abnormal intestine morphology Nail dysplasia Failure to thrive Global developmental delay Alopecia totalis Vitiligo Autoimmune thrombocytopenia Bronchiectasis Growth hormone deficiency Thickened skin Type I diabetes mellitus Fatigue Omphalocele Ventricular septal defect Recurrent respiratory infections Hepatitis Intrauterine growth retardation Lymphopenia Polyhydramnios Abdominal distention Intestinal malrotation Sparse hair Recurrent pneumonia Arthralgia Hypotension Recurrent otitis media Diplopia Hyponatremia Absence seizures Recurrent upper respiratory tract infections Hyperkalemia Recurrent sinusitis Gastrointestinal carcinoma Recurrent bronchitis Decreased taste sensation Hamartomatous polyposis Glossitis Patchy alopecia Peripheral edema Decreased circulating cortisol level Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Myalgia Hypomagnesemia Abnormality of the vasculature Xerostomia Recurrent hypoglycemia Adrenocorticotropin deficient adrenal insufficiency Autoimmune antibody positivity Abnormality of abdomen morphology Skin vesicle Abnormal blistering of the skin Pruritus Papule Muscular dystrophy Hyperkeratosis Cardiomyopathy Congenital localized absence of skin Fever Decreased proportion of CD8-positive T cells Jejunal atresia Microcolon Duodenal stenosis Duodenal atresia Combined immunodeficiency Recurrent pharyngitis Decreased circulating androgen level Decreased circulating ACTH level Hypoglycemic coma Generalized hyperpigmentation Decreased serum insulin-like growth factor 1 Severe viral infections Abnormal lymphocyte morphology Abnormal size of pituitary gland Inflammation of the large intestine Severe B lymphocytopenia Abnormality of the periungual region Abnormality of the skeletal system Small for gestational age Anal atresia Hemolytic anemia Thromboembolism Clubbing Sparse body hair Dysphagia Chronic sinusitis Telangiectasia Adrenal insufficiency Purpura Meningitis Sinusitis Leukopenia Inflammatory abnormality of the skin Tachypnea Cutis marmorata Asthma Hypoglycemia Pulmonary fibrosis Recurrent infections Gait disturbance Adrenocorticotropic hormone deficiency Spasticity Increased antibody level in blood Recurrent abscess formation Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Thrombocytosis Pustule Raynaud phenomenon Myositis Antinuclear antibody positivity Low-grade fever Follicular hyperplasia Malar rash Fasciitis Decreased body weight Alopecia areata Colon cancer Paresthesia Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Hypoalbuminemia Hypokalemia Cachexia Erythema Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Lymphedema Anorexia Joint stiffness Tapered finger Abnormality of skin pigmentation Malabsorption Central adrenal insufficiency Hepatomegaly Trachyonychia Seizures Neoplasm Muscle weakness Pain Cataract Macrocephaly Weight loss Abnormal lung morphology Edema Vomiting Skin rash Splenomegaly Abdominal pain Plantar hyperkeratosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Skeletal dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more