Autoimmunity, and Lymphedema

Diseases related with Autoimmunity and Lymphedema

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


Top 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 PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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Other less relevant matches:

Low match BURULI ULCER, SUSCEPTIBILITY TO


Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Low match LYMPHEDEMA, HEREDITARY, IC; LMPH1C


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).For a discussion of genetic heterogeneity of hereditary lymphedema, see LMPH1A (OMIM ).

Related symptoms:

  • Nail dysplasia
  • Lymphedema
  • Recurrent skin infections
  • Cellulitis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IC; LMPH1C

Low match ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME


This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

Low match CHILBLAIN LUPUS 2; CHBL2


Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE ) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011).For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (OMIM ).

Related symptoms:

  • Edema
  • Cutaneous photosensitivity
  • Inflammatory abnormality of the skin
  • Vasculitis
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about CHILBLAIN LUPUS 2; CHBL2

Low match X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY


IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Low match PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION


PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Top 5 symptoms//phenotypes associated to Autoimmunity and Lymphedema

Symptoms // Phenotype % cases
Recurrent infections Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Erythema Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Cachexia Intestinal polyposis Hamartomatous polyposis Intellectual disability Global developmental delay Micrognathia Short nose Asthma Pruritus Neoplasm Inflammatory abnormality of the skin Hashimoto thyroiditis Angioedema Fever Immunodeficiency Ectodermal dysplasia Osteopetrosis Abnormality of the fingernails Cutaneous photosensitivity Muscle weakness Splenomegaly Nail dysplasia Hepatomegaly Anemia Macrocephaly Diarrhea Pain Vomiting Hyperpigmentation of the skin Myopathy Long philtrum Pectus excavatum Delayed skeletal maturation Hypoglycemia Macrotia Frontal bossing Neurological speech impairment Dolichocephaly Joint hyperflexibility Wide nose Nevus Lymphoma Broad thumb Subcutaneous nodule Anteverted nares Short stature Skeletal muscle atrophy White forelock Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge Abnormality of the middle ear Muscular hypotonia Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Telangiectasia Scoliosis Tall stature Intracranial hemorrhage Narrow palate Conical tooth Recurrent skin infections Cellulitis Cataract Anhidrotic ectodermal dysplasia Vasculitis Delayed eruption of teeth Recurrent bacterial infections Hypohidrotic ectodermal dysplasia Abnormal large intestine morphology Arthralgia Syncope Urticaria Vitiligo Immune dysregulation Allergic rhinitis Chills Neoplasm of the adrenal cortex Uterine neoplasm Delayed gross motor development Lipoma Petechiae Aortic aneurysm Cutis marmorata Multiple lipomas Multiple cafe-au-lait spots Hamartoma Irregular hyperpigmentation Capillary hemangioma Abdominal wall muscle weakness Meningioma Arteriovenous malformation Abnormality of the optic nerve Angina pectoris Thyroid carcinoma Visceral angiomatosis Neoplasm of the breast Subcutaneous hemorrhage Elevated erythrocyte sedimentation rate Psoriasiform dermatitis Increased antibody level in blood Paresthesia Stomach cancer Abnormality of skin pigmentation Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Malabsorption Tapered finger Hearing impairment Hypertelorism Nail dystrophy Abnormal facial shape Ptosis High palate Delayed speech and language development Visual impairment Protein-losing enteropathy Dystrophic fingernails Downslanted palpebral fissures Colon cancer Anorexia Abnormal intestine morphology Hypokalemia Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Sparse body hair Furrowed tongue Generalized hyperpigmentation Thromboembolism Xerostomia Abnormality of the vasculature Hypomagnesemia Hematochezia Dystrophic toenail Clubbing of fingers Depressed nasal bridge Intellectual disability, severe Osteomyelitis Abnormal lung morphology Palmoplantar keratoderma Convex nasal ridge Dehydration Hepatitis Low posterior hairline Depressed nasal ridge Thin skin Abnormality of retinal pigmentation Dry skin Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Recurrent pneumonia Generalized hirsutism Reduced bone mineral density Fatigue Hypocalcemia Hirsutism Arachnodactyly Intellectual disability, mild Hyperkeratosis Malar flattening Weight loss Abnormality of metabolism/homeostasis Thrombocytopenia Obesity Recurrent respiratory infections Prominent forehead Proptosis Genu valgum High forehead Hepatosplenomegaly Elevated hepatic transaminase Abdominal pain Skin rash Papule Alopecia Carious teeth Cold urticaria



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