Autoimmunity, and Diarrhea

Diseases related with Autoimmunity and Diarrhea

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


Top matches:

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match COMPLEMENT COMPONENT 5 DEFICIENCY; C5D


A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.

COMPLEMENT COMPONENT 5 DEFICIENCY; C5D Is also known as c5 deficiency

Related symptoms:

  • Diarrhea
  • Recurrent infections
  • Pneumonia
  • Otitis media
  • Inflammatory abnormality of the skin


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 5 DEFICIENCY; C5D

Low match FAMILIAL GESTATIONAL HYPERTHYROIDISM


Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

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Other less relevant matches:

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 FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Low match RECURRENT INFECTIONS ASSOCIATED WITH RARE IMMUNOGLOBULIN ISOTYPES DEFICIENCY


Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.

RECURRENT INFECTIONS ASSOCIATED WITH RARE IMMUNOGLOBULIN ISOTYPES DEFICIENCY Is also known as selective igg subclass deficiency|igg subclass deficiency with iga subclass deficiency|kappa-chain deficiency|isolated igg subclass deficiency|kappa chain deficiency

Related symptoms:

  • Diarrhea
  • Recurrent infections
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Abnormal immunoglobulin level


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTIONS ASSOCIATED WITH RARE IMMUNOGLOBULIN ISOTYPES DEFICIENCY

Low match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY


Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY


SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY Is also known as scid due to lck deficiency|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|scid due to lymphocyte-specific protein tyrosine kinase deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Diarrhea

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Respiratory tract infection Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Lymphopenia Decreased antibody level in blood

Rare Symptoms - Less than 30% cases


Hyperthyroidism Hand tremor Autoimmune antibody positivity Graves disease Thyroid hyperplasia Activating thyroid-stimulating hormone receptor defect Failure to thrive Impaired T cell function Anemia Decreased proportion of CD4-positive T cells Goiter Growth delay Splenomegaly Arthritis Autoimmune hemolytic anemia Bronchiectasis Recurrent upper respiratory tract infections Abnormal intestine morphology Abnormal lung morphology Eczema Agitation Thyrotoxicosis with diffuse goiter Thrombocytopenia Tachycardia Systemic lupus erythematosus Sleep disturbance Proptosis Weight loss Hyperactivity Otitis media Inflammatory abnormality of the skin Recurrent bacterial infections Motor delay Erythroderma Autoimmune thrombocytopenia Recurrent skin infections Thyroiditis Myelodysplasia Osteosarcoma Atopic dermatitis Severe intrauterine growth retardation Interstitial pulmonary abnormality Neutropenia Psoriasiform dermatitis Protein-losing enteropathy Folliculitis Verrucae Intrauterine growth retardation Hemolytic anemia Retinal vasculitis Blindness Glaucoma Hepatomegaly Abnormal facial shape Respiratory failure Capillary leak Hypothyroidism Postnatal growth retardation Ichthyosis Dry skin Panniculitis Protracted diarrhea Severe combined immunodeficiency Pericarditis Combined immunodeficiency Vasculitis Fever Ascites Pretibial myxedema Enlarged tonsils C8 deficiency Hyperemesis gravidarum Spontaneous abortion Nausea Nausea and vomiting Hyperhidrosis Vomiting Tremor Generalized seborrheic dermatitis Recurrent meningitis Hepatosplenomegaly Paroxysmal nocturnal hemoglobinuria Discoid lupus rash Intractable diarrhea Complement deficiency Hemoglobinuria Seborrheic dermatitis Meningitis Pneumonia Recurrent mycobacterial infections Alopecia Vitiligo Chronic lymphatic leukemia Eyelid retraction Recurrent sinopulmonary infections Allergy B-cell lymphoma Neurodevelopmental delay Inflammation of the large intestine Chronic diarrhea Lymphoma Abnormal immunoglobulin level Abnormal eye morphology Immune dysregulation Tachypnea Accelerated skeletal maturation Premature birth Small for gestational age Abnormality of metabolism/homeostasis Delayed speech and language development Global developmental delay Intellectual disability Alopecia areata Erythroid dysplasia



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