Melanoma, and Umbilical hernia

Diseases related with Melanoma and Umbilical hernia

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

Top matches:

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

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Other less relevant matches:

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Low match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Top 5 symptoms//phenotypes associated to Melanoma and Umbilical hernia

Symptoms // Phenotype % cases
Macroglossia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Nephroblastoma Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Large for gestational age Omphalocele Jaundice Inguinal hernia Visceromegaly Anterior creases of earlobe Abdominal wall defect Diastasis recti Auricular pit Muscular hypotonia Intellectual disability Premature birth Neoplasm Hemihypertrophy Nevus flammeus Abnormality of the outer ear Hernia Overgrowth Abnormality of the kidney Neonatal hypoglycemia Abnormality of the face Abdominal distention Ventricular septal defect Seizures Enlarged kidney Cleft palate

Rare Symptoms - Less than 30% cases

Hypoglycemia Growth hormone deficiency Accelerated skeletal maturation Congenital hypothyroidism Hoarse cry Carcinoma Embryonal neoplasm Congestive heart failure Respiratory distress Macrocephaly Abnormality of the ureter Epicanthus Polyhydramnios Rhabdomyosarcoma Hypertension Anemia Facial asymmetry Strabismus Patent ductus arteriosus Polydactyly Neuroblastoma Feeding difficulties Mandibular prognathia Epistaxis Lymphoma Coarse facial features Fatigue Bruising susceptibility Tall stature Hypospadias Constipation Hypothyroidism Generalized hypotonia Elevated hepatic transaminase Hepatosplenomegaly Macrotia Hypertrophic cardiomyopathy Diabetes mellitus Dilatation Hyperhidrosis Cirrhosis Intellectual disability, mild Cardiomyopathy Peripheral neuropathy Cognitive impairment Postauricular pit Autoimmunity Insulin resistance Hirsutism Skeletal muscle hypertrophy Nephrolithiasis Acanthosis nigricans Hyperlipidemia Polycystic ovaries Hyperinsulinemia Lipodystrophy Clitoral hypertrophy Abnormality of the genital system Large hands High pitched voice Hepatic steatosis Polyphagia Lipoatrophy Insulin-resistant diabetes mellitus Hypertrichosis Abnormality of lipid metabolism Hypertriglyceridemia Epidermal acanthosis Triangular face Oligomenorrhea Long foot Nephropathy Decreased serum leptin Angina pectoris Joint hyperflexibility Low-set ears Downslanted palpebral fissures Ventriculomegaly Short neck Hydrocephalus Kyphosis Short nose Long philtrum Microphthalmia Pectus excavatum Hyperactivity Narrow mouth Retinopathy Oral cleft Global developmental delay Delayed eruption of teeth Abnormality of the ribs Arnold-Chiari malformation Trigonocephaly Basal cell carcinoma Abnormality of the vertebral column Medulloblastoma Metopic synostosis Palmar pits Calcification of falx cerebri Ovarian fibroma Thickened ears Plantar pits Odontogenic keratocysts of the jaw Cataract Congenital megaureter Abnormality of the ovary Hypertelorism Bone cyst Glioma Acute pancreatitis Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Tethered cord Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Labial hypertrophy Generalized muscular appearance from birth Microcephaly Abnormality of the dentition Posterior helix pit Malar flattening Brachycephaly Proptosis Deeply set eye Synophrys Hematuria Full cheeks Prominent nose Cardiomegaly Capillary hemangioma Abnormal eyebrow morphology Mild global developmental delay Asymmetry of the thorax Hemifacial hypertrophy Prune belly Portal hypertension Abnormality of earlobe Short stature Sleep disturbance Large fontanelles Wide anterior fontanel Intellectual disability, progressive Hypopituitarism Severe postnatal growth retardation Pituitary hypothyroidism Pseudohypoparathyroidism Narcolepsy Hypothalamic hypothyroidism Craniopharyngioma Growth delay Intellectual disability, severe Delayed skeletal maturation Feeding difficulties in infancy Lethargy Dry skin Abnormal vertebral morphology Bradycardia Hyperbilirubinemia Goiter Stridor Myotonia Spondyloepiphyseal dysplasia Abnormality of metabolism/homeostasis Depressed nasal bridge Thyroid hypoplasia Refractory anemia Leukemia Neutropenia Abnormal bleeding Purpura Myelodysplasia Prolonged bleeding time Acute myeloid leukemia Acute lymphoblastic leukemia Acute leukemia Acute monocytic leukemia Impaired platelet aggregation Scoliosis Gingival recession Fever Arthralgia Irritability Joint hypermobility Osteoarthritis Hyperextensible skin Atrophic scars Fragile skin Gingival bleeding Premature loss of teeth Periodontitis Hypothermia Increased thyroid-stimulating hormone level Skin tags Melena Colon cancer Hamartoma Polycythemia Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Intussusception Thrombocytopenia Multiple gastric polyps Duodenal adenocarcinoma Adenocarcinoma of the colon Hepatic vascular malformations Apnea Renal cyst Psoriasiform dermatitis Supernumerary nipple Syringomyelia Central hypotonia Abnormality of the vasculature Clubbing Hypoalbuminemia Ectopic thyroid Pain Thyroid agenesis Large posterior fontanelle Thyroid dysgenesis Thyroid hemiagenesis Muscle weakness Delayed speech and language development Clinodactyly Abnormal heart morphology Micropenis Autistic behavior Failure to thrive Diarrhea Hypokalemia Headache Abdominal pain Dyspnea Stroke Cough Vertigo Chest pain Gastrointestinal hemorrhage Cyanosis Telangiectasia Diplopia Cardiac fibroma


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