Melanoma, and Abnormality of the ribs

Diseases related with Melanoma and Abnormality of the ribs

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

Top 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

Other less relevant matches:

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

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 CMM1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 9; GLM9

Top 5 symptoms//phenotypes associated to Melanoma and Abnormality of the ribs

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Cognitive impairment Rare - less than 30% cases
Renal neoplasm Rare - less than 30% cases
Hyperextensible skin Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Leukemia Neoplasm of the lung Astrocytoma Glioma Myocardial infarction Intellectual disability Seizures Multiple gastric polyps Renal angiomyolipoma Pneumothorax Bronchiolitis Chylothorax Abnormality of the lymphatic system Abnormal urinary color Shagreen patch Bronchiolitis obliterans Ungual fibroma Retinal hamartoma Atelectasis Cystic lung disease Pulmonary lymphangiomyomatosis Chylopericardium Abnormality of the dentition Kyphoscoliosis Desmoid tumors Abnormality of female internal genitalia Multiple renal cysts Duodenal polyposis Gastrointestinal hemorrhage Dyspnea Cough Lymphadenopathy Abnormality of skin pigmentation Hematuria Ascites Chest pain Abnormal lung morphology Intellectual disability, moderate Lymphedema Nephroblastoma Emphysema Restrictive ventilatory defect Macule Hemoptysis Pulmonary infiltrates Carcinoma Small intestine carcinoid Abdominal mass Chondrosarcoma Stomach cancer Adrenocortical adenoma Epidermoid cyst Papillary thyroid carcinoma Hepatoblastoma Keloids Thoracic kyphoscoliosis Absent gallbladder Medulloblastoma Intestinal polyp Adrenocortical carcinoma Multiple impacted teeth Colorectal polyposis Unerupted tooth Cholangiocarcinoma Fibroadenoma of the breast Osteoma Adenomatous colonic polyposis Intestinal polyposis Carious teeth Colon cancer Infertility Hyperpigmentation of the skin Horseshoe kidney Abdominal pain Sarcoma Precocious puberty Intestinal obstruction Chorioretinal atrophy Thyroid carcinoma Agenesis of permanent teeth Neurofibromas Multiple lipomas Increased number of teeth Duodenal adenocarcinoma Increased circulating cortisol level Brain neoplasm Odontoma Respiratory failure Optic atrophy Recurrent respiratory infections Abnormality of the kidney Delayed skeletal maturation Posteriorly rotated ears Brachycephaly Hyperkeratosis Mandibular prognathia Neonatal hypotonia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pectus carinatum Pectus excavatum Pulmonic stenosis Delayed puberty Joint hyperflexibility Thick vermilion border Triangular face Nevus Webbed neck Specific learning disability Arrhythmia Hypospadias Mitral valve prolapse Muscular hypotonia Global developmental delay Short stature Generalized hypotonia Hearing impairment Scoliosis Growth delay Hypertelorism Sensorineural hearing impairment Cryptorchidism Abnormality of cardiovascular system morphology Ptosis Low-set ears Depressed nasal bridge Wide nasal bridge Intrauterine growth retardation Short neck Intellectual disability, mild Dilatation Tetralogy of Fallot Abnormality of the genital system Hydrocephalus Multiple lentigines Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Shield chest Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of the pulmonary artery Excessive wrinkled skin Abnormal endocardium morphology Right ventricular hypertrophy Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Renal cell carcinoma Pain Fever Fatigue Respiratory distress Wolff-Parkinson-White syndrome Premature skin wrinkling Abnormality of the face Bilateral cryptorchidism Subcutaneous nodule Left ventricular hypertrophy Cafe-au-lait spot Scapular winging Spina bifida occulta Myelodysplasia Abnormality of the voice Melanocytic nevus Bundle branch block Sprengel anomaly External genital hypoplasia Abnormality of the ear Decreased fertility Atrioventricular canal defect Freckling Multiple cafe-au-lait spots Neuroblastoma Curly hair Severe sensorineural hearing impairment Congenital hypertrophy of retinal pigment epithelium


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