Melanoma, and Pancytopenia

Diseases related with Melanoma and Pancytopenia

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


Top matches:

Medium 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

Low match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Low match COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY


Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

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Other less relevant matches:

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3


Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Nail dysplasia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Low match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Low match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Top 5 symptoms//phenotypes associated to Melanoma and Pancytopenia

Symptoms // Phenotype % cases
Bone marrow hypocellularity Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Melanoma and Pancytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Aplastic anemia Oral leukoplakia Squamous cell carcinoma Sarcoma Seizures Nail dystrophy Abnormality of the dentition Nail dysplasia Acute monocytic leukemia Growth delay Leukemia Fever Acute myeloid leukemia

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Alopecia Lymphadenopathy Telangiectasia Pterygium Pulmonary fibrosis Cafe-au-lait spot Short thumb Poikiloderma Splenomegaly Squamous cell carcinoma of the tongue Hepatosplenomegaly Respiratory failure Hyperpigmentation of the skin Esophageal stricture Immunodeficiency Neuroblastoma Fatigue Lymphoma Hearing impairment Short stature Cryptorchidism Intellectual disability Immune dysregulation Myeloid leukemia Leukopenia Myelodysplasia Failure to thrive Hypopigmentation of the skin Abnormality of cardiovascular system morphology Atrial septal defect Short neck Ventricular septal defect Abnormality of the kidney Blepharophimosis Epicanthus Night sweats Chronic pain Hypertelorism Acute promyelocytic leukemia Pterygium of nails Osteoporosis Bulbous nose Small nail Microdontia Horseshoe kidney Vitiligo Decreased mean platelet volume Carious teeth Postnatal growth retardation Nasolacrimal duct obstruction Hypoplasia of the radius Cirrhosis Epiphora Sparse eyelashes Hepatic fibrosis Absent radius Sparse scalp hair Absent thumb Short palpebral fissure Anal atresia Small for gestational age Reduced natural killer cell activity Hodgkin lymphoma IgG deficiency Agammaglobulinemia B-cell lymphoma Recurrent pharyngitis Cellular immunodeficiency Lymphocytosis Histiocytosis Hepatic encephalopathy Fulminant hepatitis Granulomatosis Chorioretinitis Increased IgM level Dysgammaglobulinemia Pure red cell aplasia Pharyngitis Hepatic necrosis Burkitt lymphoma Increased antibody level in blood Encephalitis Non-Hodgkin lymphoma Hepatomegaly Abnormality of the skeletal system Abnormal facial shape Nephroblastoma Chromosome breakage Medulloblastoma Embryonal neoplasm Micrognathia Chromosomal breakage induced by crosslinking agents Dilatation Vasculitis Pneumonia Falls Hepatic failure Decreased antibody level in blood Memory impairment Hemiparesis Ecchymosis Meningitis Bronchiectasis Intrauterine growth retardation Gingival bleeding Erythema Cerebral cortical atrophy Hyperkeratosis Arthralgia Photophobia EEG abnormality Mental deterioration Developmental regression Dry skin Delayed skeletal maturation Decreased testicular size Abnormality of extrapyramidal motor function Cutaneous photosensitivity Choreoathetosis Thin skin Thickened skin Abnormal vertebral morphology Hypogonadism Hyporeflexia Conjunctivitis Erythroid dysplasia Arthritis Asthma Eczema Systemic lupus erythematosus Refractory anemia Monocytosis Chronic myelomonocytic leukemia Scoliosis Optic atrophy Ataxia Strabismus Sensorineural hearing impairment Cataract Spasticity Cognitive impairment Peripheral neuropathy Aminoaciduria Opacification of the corneal stroma Petechiae Headache Coombs-positive hemolytic anemia Kaposi's sarcoma Global developmental delay Cerebellar hypoplasia Esophageal stenosis Pain Respiratory distress Recurrent infections Flat nasal alae Weight loss Dyspnea Scarring Confusion Bruising susceptibility Coma Menorrhagia Respiratory tract infection Neoplasm of the eye Intellectual disability, progressive Hypermelanotic macule Neoplasm of the skin Reduced tendon reflexes Hypopigmented skin patches Dermal atrophy Ectropion Melanocytic nevus Keratitis Macule Defective DNA repair after ultraviolet radiation damage Freckling Telangiectasia of the skin Blepharitis Craniofacial hyperostosis Entropion Conjunctival telangiectasia Papilloma Ankyloblepharon Pelvic kidney



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