Melanoma, and Systemic lupus erythematosus

Diseases related with Melanoma and Systemic lupus erythematosus

In the following list you will find some of the most common rare diseases related to Melanoma and Systemic lupus erythematosus that can help you solving undiagnosed cases.


Top matches:

High match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

High 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

Low match COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD


COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD Is also known as c1s deficiency

Related symptoms:

  • Hepatitis
  • Systemic lupus erythematosus
  • Glomerulonephritis
  • Hashimoto thyroiditis
  • Chondrosarcoma


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD

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Other less relevant matches:

Low match ACETYLATION, SLOW


ACETYLATION, SLOW Is also known as inh inactivation, slow|isoniazid inactivation, slow|slow acetylator phenotype

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Abnormality of metabolism/homeostasis
  • Systemic lupus erythematosus
  • Bladder neoplasm


SOURCES: OMIM MENDELIAN

More info about ACETYLATION, SLOW

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

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 C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Top 5 symptoms//phenotypes associated to Melanoma and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Hashimoto thyroiditis Rare - less than 30% cases
Squamous cell carcinoma Rare - less than 30% cases
Basal cell carcinoma Rare - less than 30% cases
Freckling Rare - less than 30% cases
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Other less frequent symptoms

Patients with Melanoma and Systemic lupus erythematosus. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Poikiloderma Entropion Squamous cell carcinoma of the skin Cutaneous melanoma Defective DNA repair after ultraviolet radiation damage Hepatitis Glomerulonephritis Abnormality of complement system Chondrosarcoma Ectropion Peripheral neuropathy Abnormality of metabolism/homeostasis Bladder neoplasm Meningitis C8 deficiency Recurrent Neisserial infections Diarrhea Immunodeficiency Recurrent infections Recurrent mycobacterial infections Keratitis Neoplasm of the skin Dermal atrophy Acute monocytic leukemia Arthritis Leukemia Asthma Lymphoma Eczema Bone marrow hypocellularity Leukopenia Myelodysplasia Myeloid leukemia Acute myeloid leukemia Immune dysregulation Refractory anemia Anemia Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia Hyperactivity Photophobia Carcinoma Abnormality of the nervous system Hypopigmentation of the skin Cutaneous photosensitivity Telangiectasia Conjunctivitis Angioedema



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