Autoimmunity, and Basal cell carcinoma

Diseases related with Autoimmunity and Basal cell carcinoma

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


Top matches:

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Low match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

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Other less relevant matches:

Low match FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME


Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.

FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME Is also known as telangiectasia, cutaneous, and cancer syndrome, familial

Related symptoms:

  • Neoplasm
  • Alopecia
  • Carcinoma
  • Carious teeth
  • Convex nasal ridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E


An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E Is also known as xp5|xp, group e|xeroderma pigmentosum v|xpe

Related symptoms:

  • Photophobia
  • Abnormality of the nervous system
  • Cutaneous photosensitivity
  • Telangiectasia
  • Conjunctivitis


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E

Low match UVEAL MELANOMA


Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

Low match XERODERMA PIGMENTOSUM VARIANT


Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates|photosensitivity with defective dna synthesis|xpv

Related symptoms:

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM VARIANT

Low match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Low match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Basal cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Telangiectasia Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Melanoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Basal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ectropion Leukemia Entropion Poikiloderma Squamous cell carcinoma Keratitis Cutaneous melanoma Photophobia Conjunctivitis Cutaneous photosensitivity Hypopigmentation of the skin Dermal atrophy

Rare Symptoms - Less than 30% cases


Anemia Lymphoma Papule Breast carcinoma Defective DNA repair after ultraviolet radiation damage Nephroblastoma Hodgkin lymphoma Squamous cell carcinoma of the skin Abnormality of the nervous system Freckling Pruritus Hematuria Back pain Uterine leiomyoma Leiomyosarcoma Abnormality of the musculature Renal cell carcinoma Renal neoplasm Low back pain Bladder neoplasm Gastrointestinal stroma tumor Papillary renal cell carcinoma Cataract Skin rash Iris melanoma Pain Choroidal melanoma Abnormal fundus morphology Zonular cataract Uveal melanoma Photopsia Subretinal fluid Inferior lens subluxation Vaginal neoplasm Freckles in sun-exposed areas Ciliary body melanoma Abnormal visual accommodation Choroidal nevus Microcephaly Growth delay Dry skin Hyperpigmentation of the skin Barrett esophagus Hypermelanotic macule Uterine leiomyosarcoma Lisch nodules Brain neoplasm Astrocytoma Intestinal polyposis Medulloblastoma Rhabdomyosarcoma Glioma Neoplasm of the central nervous system Abnormality of abdomen morphology Intestinal polyp Ependymoma Glioblastoma multiforme Colorectal polyposis Axillary freckling Gray matter heterotopias Acute myelomonocytic leukemia Pituitary adenoma Acute lymphoblastic leukemia Cutaneous leiomyoma Sepsis Multiple cutaneous leiomyomas Papillary renal cell carcinoma type 2 Decreased fumarate hydratase activity Cutaneous leiomyosarcoma Agenesis of corpus callosum Neutropenia Heterotopia Neuroblastoma Cafe-au-lait spot Sarcoma Mydriasis Neurofibromas Colon cancer Multiple lipomas Multiple cafe-au-lait spots Metamorphopsia Onycholysis Vitreous hemorrhage Generalized edema Iron deficiency anemia Autoimmune thrombocytopenia Uveitis Hepatocellular carcinoma Antinuclear antibody positivity Multiple myeloma Chronic lymphatic leukemia Petechiae Extramedullary hematopoiesis Lymphocytosis Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Follicular hyperplasia Autoimmune hemolytic anemia Increased antibody level in blood Autoimmune neutropenia Hepatosplenomegaly Systemic lupus erythematosus Hepatomegaly Edema Splenomegaly Renal insufficiency Thrombocytopenia Glomerulonephritis Lymphadenopathy Hemolytic anemia Hepatitis Vasculitis Purpura Eosinophilia Urticaria Increased IgM level Reduced delayed hypersensitivity Ocular pain Patchy alopecia Carious teeth Convex nasal ridge Hypoplasia of dental enamel Hyperactivity Ridged nail Thin nail Onychomycosis Keratoacanthoma Sebaceous gland carcinoma Visual loss Retinal detachment Nevus Increased intraocular pressure Abnormality of refraction Inflammatory abnormality of the eye Alopecia Adenoma sebaceum Increased IgG level Smooth muscle antibody positivity Cervical lymphadenopathy Rheumatoid factor positive Coombs-positive hemolytic anemia Platelet antibody positive Decreased lymphocyte apoptosis Antineutrophil antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Papilloma Increased proportion of HLA DR+ T cells Intermediate uveitis Hyperkeratosis Abnormality of the skin Subcutaneous nodule Skin ulcer Meningitis Adenocarcinoma of the colon



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