Melanoma, and Neutropenia

Diseases related with Melanoma and Neutropenia

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

Top matches:

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Other less relevant matches:

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

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

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

Related symptoms:

  • Neoplasm
  • Leukemia
  • Melanoma
  • Neoplasm of the lung
  • Renal neoplasm


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 9; GLM9

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

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 Melanoma and Neutropenia

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Myelodysplasia Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Abnormal lung morphology Acute leukemia Cataract Blindness Immunodeficiency Recurrent infections Hypospadias Bruising susceptibility Abnormal bleeding Epistaxis Severe intrauterine growth retardation Postnatal growth retardation Prolonged bleeding time Impaired platelet aggregation Abnormality of the genital system Lymphoma Eczema Glaucoma Acute myeloid leukemia Acute monocytic leukemia Refractory anemia Erythroid dysplasia Short stature Thrombocytopenia Intrauterine growth retardation Cleft palate Patent ductus arteriosus Fatigue Micrognathia Ventricular septal defect Atrial septal defect Cleft lip Retrognathia Cleft upper lip Hypertelorism Autoimmune hemolytic anemia Encephalocele Blue sclerae Recurrent urinary tract infections Cafe-au-lait spot Hypothyroidism Erythroderma Elbow flexion contracture Horseshoe kidney Knee flexion contracture Opacification of the corneal stroma Cranial nerve paralysis Abnormality of the metacarpal bones Eosinophilia Polycystic kidney dysplasia Clitoral hypertrophy Radial deviation of finger Bilateral talipes equinovarus Anonychia Atopic dermatitis Osteosarcoma Oligohydramnios Paralysis Clinodactyly Posteriorly rotated ears Brachycephaly Protein-losing enteropathy Proptosis Polyhydramnios Skeletal dysplasia Abnormality of the kidney Craniosynostosis Convex nasal ridge Sparse hair Coloboma Short philtrum Prominent nasal bridge Corneal opacity Talipes Renal cyst Underdeveloped nasal alae Renal agenesis Short femoral neck Oligodactyly Cystic hygroma Midface capillary hemangioma Aplasia of the ulna Hemolytic anemia Talipes equinovalgus Absent earlobe Frontal encephalocele Lymphadenopathy Intermittent thrombocytopenia Bilateral radial aplasia Tetraphocomelia Enlarged labia minora Premature separation of centromeric heterochromatin Bronchiectasis Hernia Umbilical hernia Ichthyosis Purpura Neuroblastoma Acute lymphoblastic leukemia Abnormal facial shape Diarrhea Dry skin Respiratory failure Inflammatory abnormality of the skin Triangular mouth Respiratory tract infection Subvalvular aortic stenosis Fibular hypoplasia Absent radius Ankle contracture Shallow orbits Upper limb undergrowth Bilateral cleft lip Low hanging columella Bilateral cleft lip and palate Eyelid coloboma Bicornuate uterus Recurrent skin infections Bilateral renal agenesis Abnormal intestine morphology Microphthalmia Biliary tract abnormality Hand oligodactyly Lymphopenia Phocomelia Hydranencephaly Wrist flexion contracture Narrow naris Craniofacial dysostosis Accessory spleen Long penis Renal neoplasm Syndactyly Weight loss Fetal distress Persistence of hemoglobin F Nystagmus Strabismus Visual impairment Myopia Cardiomyopathy Renal insufficiency Abdominal pain Hyperkeratosis Dyspnea Cleft soft palate Photophobia Malabsorption Astigmatism Hypopigmentation of the skin Nevus Gastrointestinal hemorrhage Epidermal acanthosis Thickened skin Long eyelashes Anorexia Reticulocytopenia Increased mean corpuscular volume Abnormality of the hair Tetralogy of Fallot Failure to thrive Short nose Arrhythmia Osteoporosis Autism Pallor Autistic behavior Delayed puberty Bifid uvula Migraine Mitral valve prolapse Esophagitis Ventricular hypertrophy Thick lower lip vermilion Depressed nasal ridge Mitral regurgitation Short thumb Abnormality of the urinary system Abnormality of the hand Triphalangeal thumb Macrocytic anemia Tracheomalacia Amblyopia Abnormality of dental enamel Malar flattening Global developmental delay Systemic lupus erythematosus Myeloid leukemia Immune dysregulation Monocytosis Chronic myelomonocytic leukemia Neoplasm of the lung Astrocytoma Glioma Intellectual disability Seizures Microcephaly Bone marrow hypocellularity Cryptorchidism Low-set ears Flexion contracture High palate Brachydactyly Wide nasal bridge Downslanted palpebral fissures Talipes equinovarus Short neck Hydrocephalus Leukopenia Asthma Acanthosis nigricans Severe vision loss Melanocytic nevus Inflammation of the large intestine Albinism Pulmonary fibrosis Basal cell carcinoma Restrictive ventilatory defect Colitis Freckling Hypopigmentation of hair Iris hypopigmentation Gingival bleeding Arthritis Abnormality of visual evoked potentials Ocular albinism Hematochezia Abnormality of the optic nerve Ulcerative colitis Abnormal thrombocyte morphology Squamous cell carcinoma of the skin Partial albinism Menometrorrhagia Freckles in sun-exposed areas Folliculitis


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