Melanoma, and Left ventricular hypertrophy

Diseases related with Melanoma and Left ventricular hypertrophy

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

Top 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

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

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Other less relevant matches:

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

Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

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

Related symptoms:

  • Pain
  • Cardiomyopathy
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Brachycephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Abnormality of the kidney Seizures Intellectual disability Abnormality of the genital system Chest pain Ventricular hypertrophy Cleft upper lip Retrognathia Cleft palate Posteriorly rotated ears Micrognathia Short neck Global developmental delay Cryptorchidism Intrauterine growth retardation Polycystic kidney dysplasia

Rare Symptoms - Less than 30% cases

Tetraphocomelia Cataract Pain Severe intrauterine growth retardation Wrist flexion contracture Microcephaly Aplasia of the ulna Absent earlobe Underdeveloped nasal alae Midface capillary hemangioma Flexion contracture Short thumb Clitoral hypertrophy Absent radius Cleft lip Radial deviation of finger Patent ductus arteriosus Atrial septal defect Ventricular septal defect Premature separation of centromeric heterochromatin Brachydactyly High palate Low hanging columella Subvalvular aortic stenosis Long penis Phocomelia Corneal opacity Prominent nasal bridge Blue sclerae Sparse hair Craniosynostosis Paralysis Postnatal growth retardation Downslanted palpebral fissures Knee flexion contracture Upper limb undergrowth Proptosis Glaucoma Opacification of the corneal stroma Clinodactyly Thrombocytopenia Microphthalmia Malar flattening Polyhydramnios Short femoral neck Arrhythmia Myocardial infarction Dilatation Abnormality of cardiovascular system morphology Hypospadias Tetralogy of Fallot Mitral valve prolapse Low-set ears Wide nasal bridge Intellectual disability, mild Cafe-au-lait spot Sensorineural hearing impairment Dyspnea Syncope Delayed puberty Primary hyperparathyroidism Parathyroid adenoma Generalized osteoporosis Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Hyperphosphaturia Humeroradial synostosis Carcinoid tumor Hyperparathyroidism Hypophosphatemia Hypercalcemia Hypercalciuria Peptic ulcer Craniofacial dysostosis Retinoblastoma Capillary hemangioma Prolonged QT interval Underdeveloped supraorbital ridges Synostosis of carpal bones External ear malformation Cardiomyopathy Polyarticular chondrocalcinosis Elevated alkaline phosphatase of bone origin Parathyroid carcinoma Parathyroid hyperplasia Fair hair Abnormality of the upper limb Patellar aplasia Calcium nephrolithiasis Facial hemangioma Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Complete duplication of thumb phalanx Breast carcinoma Narrow naris Cystic hygroma Horseshoe kidney Cranial nerve paralysis Triangular mouth Bilateral renal agenesis Abnormality of the metacarpal bones Accessory spleen Eosinophilia Hip contracture Anonychia Oligodactyly Frontal encephalocele Fibular hypoplasia Ankle contracture Shallow orbits Bilateral cleft lip Bilateral cleft lip and palate Eyelid coloboma Bicornuate uterus Biliary tract abnormality Hand oligodactyly Hydranencephaly Talipes equinovalgus Elbow flexion contracture Progressive flexion contractures Short philtrum Mesomelic arm shortening Nephrocalcinosis Nephrolithiasis Recurrent fractures Talipes equinovarus Hydrocephalus Syndactyly Carcinoma Skeletal dysplasia Coloboma Osteopenia Intermittent thrombocytopenia Talipes Renal cyst Renal agenesis Renal insufficiency Convex nasal ridge Oligohydramnios Enlarged labia minora Bilateral radial aplasia Encephalocele Recurrent urinary tract infections Bilateral talipes equinovarus Clinodactyly of the 5th finger Aplasia/Hypoplasia of the thumb Freckling Myelodysplasia Abnormality of the voice Melanocytic nevus Bilateral cryptorchidism Bundle branch block External genital hypoplasia Abnormality of the ear Decreased fertility Atrioventricular canal defect Multiple cafe-au-lait spots Spina bifida occulta Neuroblastoma Curly hair Severe sensorineural hearing impairment Sprengel anomaly Premature skin wrinkling Right ventricular hypertrophy Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Hyperextensible skin Scapular winging Abnormal aortic valve morphology Mandibular prognathia Generalized hypotonia Hearing impairment Scoliosis Muscular hypotonia Ptosis Cognitive impairment Depressed nasal bridge Pectus excavatum Delayed skeletal maturation Hyperkeratosis Neonatal hypotonia Subcutaneous nodule Low-set, posteriorly rotated ears Pectus carinatum Pulmonic stenosis Joint hyperflexibility Thick vermilion border Triangular face Nevus Webbed neck Specific learning disability Abnormality of the face Shield chest Abnormal localization of kidney Absent thumb Falls Esophagitis Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Fetal distress Persistence of hemoglobin F Nystagmus Congestive heart failure Finger syndactyly Hypotrichosis Premature birth Tracheomalacia Hemiparesis Bowing of the long bones Aortic valve stenosis Bilateral single transverse palmar creases Wormian bones Sandal gap Hemangioma Hypoplasia of the radius Radioulnar synostosis Proximal placement of thumb Acute leukemia Macrocytic anemia Abnormality of the pulmonary artery Osteoporosis Excessive wrinkled skin Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Failure to thrive Anemia Fatigue Short nose Autism Triphalangeal thumb Pallor Autistic behavior Neutropenia Bifid uvula Migraine Thick lower lip vermilion Depressed nasal ridge Mitral regurgitation Abnormality of the urinary system Abnormality of the hand Left bundle branch block


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