Melanoma, and Aganglionic megacolon

Diseases related with Melanoma and Aganglionic megacolon

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

Top matches:

Related symptoms:

  • Seizures
  • Arrhythmia
  • Hyperhidrosis
  • Aganglionic megacolon
  • Abnormal autonomic nervous system physiology


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME

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

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 cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1|fmtc

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Low match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Aganglionic megacolon

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Ganglioneuroma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neuroblastoma Neoplasm of the endocrine system Hyperhidrosis Muscular hypotonia Medullary thyroid carcinoma Thyroid carcinoma Abnormal autonomic nervous system physiology

Rare Symptoms - Less than 30% cases

Pes cavus Visual loss Strabismus Goiter Intellectual disability Diarrhea Sensorineural hearing impairment Central hypoventilation Constipation Elevated urinary epinephrine Squamous cell carcinoma Elevated calcitonin Pheochromocytoma Ganglioneuroblastoma Abnormal pupil morphology Parathyroid hyperplasia Photophobia Blindness Palmoplantar keratoderma Acne Abnormality of the dentition Delayed skeletal maturation Alopecia Cerebellar hypoplasia Hyperkeratosis Ichthyosis Erythema Visual impairment Sparse hair Scarring Severe global developmental delay Failure to thrive in infancy Nail dystrophy Carious teeth Arthritis Short stature Cryptorchidism Proximal femoral epiphysiolysis Lisch nodules Colonic diverticula Achalasia Schizencephaly Nodular goiter Flushing Nail dysplasia Abnormality of the parathyroid gland Neuroma Hearing impairment Subcutaneous neurofibromas Inguinal freckling Prominent corneal nerve fibers Freckling Ganglioneuromatosis Neurofibromas Disproportionate tall stature Multiple mucosal neuromas Delayed eruption of teeth Reduced tendon reflexes Progressive visual loss Corneal neovascularization Alopecia of scalp Abnormal eyelash morphology Corneal erosion Dystrophic toenail Furrowed tongue Hypoplastic fingernail Oral leukoplakia Dystrophic fingernails Recurrent corneal erosions Severe hearing impairment Abnormality of the tongue Squamous cell carcinoma of the skin Keratoconjunctivitis Corneal scarring Recurrent bacterial skin infections Generalized hyperkeratosis Corneal ulceration Moderate hearing impairment Trichiasis Keratoconjunctivitis sicca Cellulitis Fine hair Osteolysis Thickened skin Hypohidrosis Sparse and thin eyebrow Skin ulcer Elbow flexion contracture Knee flexion contracture Conjunctivitis Sparse eyelashes Neoplasm of the skin Macule Subcutaneous nodule Urticaria Scaling skin Congenital sensorineural hearing impairment Keratitis Absent eyebrow Hypoplastic toenails Hemiplegia/hemiparesis Aplasia/Hypoplasia of the eyebrow Cafe-au-lait spot Kyphosis Hemiparesis Feeding difficulties Gastroesophageal reflux Small for gestational age Oligohydramnios Decreased fetal movement Breathing dysregulation Central sleep apnea Low-set ears Cognitive impairment Fever Failure to thrive Downslanted palpebral fissures Respiratory insufficiency Short nose Obesity Depressivity Posteriorly rotated ears Anxiety Low-set, posteriorly rotated ears Polyhydramnios Cutaneous amyloidosis Respiratory tract infection Abnormality of the integument Prolonged QT interval Neoplasm of the nervous system Hypertension Hyperparathyroidism Increased circulating cortisol level Upper limb undergrowth Parathyroid adenoma Carcinoid tumor Respiratory distress Follicular thyroid carcinoma Hypothyroidism Lymphadenopathy Lymphoma Hoarse voice Amyloidosis Thyroiditis Teratoma Papillary thyroid carcinoma Apnea Postural instability Thick lower lip vermilion Pectus excavatum Generalized hypotonia Scoliosis Abnormal facial shape Ptosis High palate Abnormality of the skeletal system Myopathy Arrhythmia Proptosis Hypercapnia Coarse facial features Joint laxity Hyperlordosis Thick eyebrow Thick vermilion border High, narrow palate Polyneuropathy Abnormality of the skin Global developmental delay Abnormality of the autonomic nervous system Cyanosis Obstructive sleep apnea Abnormality of the cardiovascular system Abnormal lung morphology Increased body weight Sleep apnea Polyphagia Polycythemia Hypoventilation Abnormality of the mouth Cardiorespiratory arrest Snoring Hypothermia Chronic constipation Abnormality of the endocrine system Chronic lung disease Hypoxemia Neoplasm of the central nervous system Abnormality of temperature regulation Triangular mouth Abnormality of corneal stroma


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