Melanoma, and Pulmonary arterial hypertension

Diseases related with Melanoma and Pulmonary arterial hypertension

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

Top matches:

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Low match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Other less relevant matches:

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Low match KEUTEL SYNDROME

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see {178600}). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014).For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (OMIM ).

PULMONARY CAPILLARY HEMANGIOMATOSIS Is also known as hemangiomatosis, familial pulmonary capillary

Related symptoms:

  • Hypertension
  • Fatigue
  • Dilatation
  • Dyspnea
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PULMONARY CAPILLARY HEMANGIOMATOSIS

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

Top 5 symptoms//phenotypes associated to Melanoma and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia

Rare Symptoms - Less than 30% cases

Respiratory failure Recurrent respiratory infections Immunodeficiency Papule Hemangioma Susceptibility to herpesvirus Delayed puberty Xanthomatosis Short stature Seizures Intellectual disability Fatigue Ventricular septal defect Fever Alopecia Dyspnea Hypotrichosis Cerebral calcification Peripheral pulmonary artery stenosis Diarrhea Hydronephrosis Respiratory tract infection Abnormal lung morphology Cough Scarring Bronchiectasis Congestive heart failure Premature fusion of phalangeal epiphyses Cartilaginous ossification of larynx Failure to thrive Cryptorchidism Hypoplasia of the corpus callosum Cartilaginous ossification of nose Spasticity Calcification of the auricular cartilage Costal cartilage calcification Delayed speech and language development Macrocephaly Ventriculomegaly Atrial septal defect Hydrocephalus Tracheal atresia Hypertonia Behavioral abnormality Microphthalmia Cerebral atrophy Cerebellar hypoplasia Agenesis of corpus callosum Cerebral cortical atrophy Skeletal dysplasia Rigidity Paralysis Coloboma Retinopathy Corneal opacity Soft, doughy skin Obstructive lung disease Calcification of cartilage Epiphyseal stippling Sinusitis Leukodystrophy Spontaneous abortion Cutis laxa Progressive hearing impairment Growth abnormality Deep philtrum Dermal atrophy Nasal speech Aortic aneurysm Emphysema Mixed hearing impairment Recurrent sinusitis Irregular vertebral endplates Arterial calcification Pulmonary artery stenosis Chronic sinusitis Short hallux Recurrent bronchitis Chronic obstructive pulmonary disease Thyroid carcinoma Gastroesophageal reflux Shortening of all distal phalanges of the fingers Short nail Papillary thyroid carcinoma Abdominal aortic aneurysm Iris coloboma Pulmonary artery hypoplasia Neurological speech impairment Tetraplegia Short phalanx of finger Tricuspid valve prolapse Astrocytoma Craniofacial hyperostosis Subvalvular aortic stenosis Bone cyst Porencephalic cyst Interrupted aortic arch Glioma Visceral angiomatosis Abnormal aortic morphology Alopecia areata Abnormal anterior chamber morphology Subcortical cerebral atrophy Abnormal nasolacrimal system morphology Epibulbar dermoid Subcutaneous lipoma Echolalia Hemiatrophy Chorioretinitis Pelvic kidney Neoplasm of the skeletal system Neurodevelopmental abnormality Odontoma Osteochondrosis Linear hyperpigmentation Abnormal cartilage morphology Lipomas of the central neryous system Hemangiomatosis Pulmonary capillary hemangiomatosis Pulmonary venous occlusion Arterial intimal fibrosis Hemihypertrophy Ectopia pupillae Nevus Dysphasia Dandy-Walker malformation Coarctation of aorta Intellectual disability, profound Hemiparesis Abnormality of the face Subcutaneous nodule Aortic valve stenosis Muscle stiffness Osteolysis Sacral dimple Mutism Hemiplegia Lipodystrophy Aphasia Cortical dysplasia Dysostosis multiplex Arachnoid cyst Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Capillary hemangioma Abnormality of the skull Abnormal eyelash morphology Multiple lipomas Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Absent septum pellucidum Short thumb Pulmonary insufficiency Recurrent otitis media Gout Interstitial pulmonary abnormality Neoplasm by anatomical site Hepatomegaly Renal insufficiency Hypoglycemia Proteinuria Increased antibody level in blood Lactic acidosis Hematuria Metabolic acidosis Hyperlipidemia Focal segmental glomerulosclerosis Hepatocellular carcinoma Pulmonary fibrosis Generalized lymphadenopathy Xanthelasma Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Spider hemangioma Ketonemia Respiratory distress Clubbing Growth delay Anemia Respiratory insufficiency Recurrent infections Thrombocytopenia Delayed skeletal maturation Skin plaque Venous insufficiency Diabetes mellitus Polycythemia Alveolar cell carcinoma Hypocapnia Reticular pattern on pulmonary HRCT Honeycomb lung Ground-glass opacification on pulmonary HRCT Right ventricular failure Edema Clubbing of fingers Pulmonary infiltrates Encephalopathy Weight loss Abnormality of the liver Skin rash Lymphadenopathy Skin nodule Lymphoma Gastrointestinal hemorrhage Lymphedema Neoplasm of the skin Exertional dyspnea Sarcoma Hypermelanotic macule Abnormal retinal morphology Macule Abnormality of the gastrointestinal tract Abnormality of the lower limb Lymphoproliferative disorder Abnormality of the spleen Cellular immunodeficiency Scaling skin Hypothyroidism Sloping forehead Intellectual disability, mild Renal artery stenosis Autoimmune neutropenia Functional abnormality of the bladder Carotid artery dilatation Recurrent Aspergillus infections Oropharyngeal squamous cell carcinoma Esophageal carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Hearing impairment Abnormal facial shape Depressed nasal bridge Optic atrophy Malar flattening Antiphospholipid antibody positivity Cyanosis Cirrhosis Osteoporosis Macrotia Pulmonic stenosis Infertility Long face Short distal phalanx of finger Wide nose Asthma Underdeveloped nasal alae Otitis media Memory impairment Crackles Renovascular hypertension B lymphocytopenia Osteopenia Encephalitis Hepatosplenomegaly Autoimmunity Hemolytic anemia Sepsis Hepatitis Eczema Inflammatory abnormality of the skin Lymphopenia Type I diabetes mellitus Purpura Abnormal intestine morphology Leukoencephalopathy Recurrent upper respiratory tract infections Patent foramen ovale Primary hypothyroidism Inflammation of the large intestine Autoimmune hemolytic anemia Thyroiditis Autoimmune thrombocytopenia Pulmonary embolism Hashimoto thyroiditis Dilatation of the cerebral artery Abnormality of the endocrine system Chronic mucocutaneous candidiasis Villous atrophy Generalized osteoporosis Immune dysregulation Enterocolitis Decrease in T cell count Midface retrusion


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