Lymphoma, and Pheochromocytoma

Diseases related with Lymphoma and Pheochromocytoma

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

Top matches:

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.

HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about HYPERPLASTIC POLYPOSIS SYNDROME

Other less relevant matches:

Low match EWING SARCOMA

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by Pereira et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Lymphoma
  • Goiter
  • Basal cell carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CANCER, NONMEDULLARY, 4; NMTC4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

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

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Top 5 symptoms//phenotypes associated to Lymphoma and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Neurofibromas Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Sarcoma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Carcinoma Hearing impairment Aganglionic megacolon Cafe-au-lait spot Meningioma Astrocytoma Weight loss Glaucoma Rhabdomyosarcoma Intellectual disability Neuroblastoma Hypertension Abnormal facial shape Anemia

Rare Symptoms - Less than 30% cases

Cataract Burkitt lymphoma Ewing sarcoma Parathyroid adenoma Brain neoplasm Acute lymphoblastic leukemia Neoplasm of the endocrine system Thyroid carcinoma Overweight Multiple cafe-au-lait spots Freckling Seizures Medulloblastoma Papillary thyroid carcinoma Paraganglioma Strabismus Leiomyosarcoma Microcephaly Hodgkin lymphoma Respiratory distress Basal cell carcinoma Axillary freckling Soft tissue sarcoma Coarctation of aorta Goiter Lisch nodules Chronic myelogenous leukemia Glioma Nasolacrimal duct obstruction Agenesis of corpus callosum Proptosis Neoplasm of the central nervous system Glioblastoma multiforme Kyphoscoliosis Blindness Hyperactivity Autism Visual loss Delayed speech and language development Paralysis Headache Pulmonic stenosis Visual impairment Behavioral abnormality Peripheral neuropathy Abnormal heart morphology Ptosis Abnormality of skin pigmentation Scoliosis Recurrent fractures Hydrocephalus Short stature Global developmental delay Motor delay Muscle weakness Delayed gross motor development Progressive muscle weakness Neoplasm of the peripheral nervous system Skeletal muscle atrophy Primitive neuroectodermal tumor Retinal calcification Decreased nerve conduction velocity Hammertoe Steppage gait Peripheral neuroepithelioma Hyporeflexia Areflexia Split hand Pes cavus Apnea Sleep apnea Distal muscle weakness Pinealoma Foot dorsiflexor weakness Abnormality of the foot Distal amyotrophy Distal sensory impairment Sensory neuropathy Polyneuropathy Delayed myelination Peripheral demyelination Limb muscle weakness Uveitis Myeloid leukemia Parietal foramina Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Abnormality of the cervical spine Duplication of phalanx of hallux Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Abnormal cornea morphology Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyscalculia Vascular ring Leukocytosis High axial triradius Decreased number of peripheral myelinated nerve fibers Pleural effusion Paraplegia Fever Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth Papillary cystadenoma of the epididymis Bifid uterus Enlarged tonsils Talon cusp Pineoblastoma Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Decreased motor nerve conduction velocity Hypopnea Axonal loss Inflammatory abnormality of the eye Anemia of inadequate production Lymphadenopathy Acute monocytic leukemia Buphthalmos Hypothyroidism Tachycardia Vertigo Hyperhidrosis Squamous cell carcinoma Non-medullary thyroid carcinoma Retinoblastoma Thyroid adenoma Vitreous hemorrhage Ovarian carcinoma Ocular pain Anisocoria Hoarse voice Amyloidosis Multinodular goiter Malar flattening Cellulitis Myelodysplasia Increased intracranial pressure Chromosome breakage Anorexia Postural instability Skin rash Vomiting Thyroiditis Cleft palate Nystagmus Cutaneous amyloidosis Follicular thyroid carcinoma Osteosarcoma Medullary thyroid carcinoma Teratoma Leukocoria Malar rash Onion bulb formation Neoplasm of the eye Hypopigmentation of the skin Neutropenia Cold-induced muscle cramps Progressive distal muscular atrophy Abnormal nervous system electrophysiology Myelin outfoldings Hypertrophic nerve changes Ulnar claw Heterotopia Axonal regeneration Acute myeloid leukemia Hyphema Segmental peripheral demyelination/remyelination Pineal cyst Demyelinating peripheral neuropathy Iris neovascularization Sepsis Nephroblastoma Fibrosarcoma Short attention span Adenocarcinoma of the colon Acute myelomonocytic leukemia Vitritis Histiocytoma Gray matter heterotopias Colorectal polyposis Liposarcoma Ependymoma Hypermelanotic macule Intestinal polyp Intestinal polyposis Pituitary adenoma Abnormality of abdomen morphology Sebaceous gland carcinoma Multiple lipomas Colon cancer Dyslexia Otitis media Hypoplastic iliac wing Myocardial fibrosis Renal phosphate wasting Schwannoma Carcinoid tumor Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Aqueductal stenosis Gangrene Fibular bowing Increased reactive oxygen species production Severe vision loss Renal cell carcinoma Osteomalacia Tibial bowing Pulmonary fibrosis Hypophosphatemia Gastrointestinal stroma tumor Dural ectasia Clitoral hypertrophy Subcutaneous neurofibromas Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Epigastric pain Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Sensory axonal neuropathy Precocious puberty Generalized hypotonia Abnormality of cardiovascular system morphology Attention deficit hyperactivity disorder Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Osteoporosis Depressivity Dilatation Malabsorption Intellectual disability, mild Cardiomyopathy Respiratory insufficiency Abnormality of the skeletal system Macrocephaly Dysarthria Cognitive impairment Hypertelorism Pruritus Genu valgum Back pain Bone pain Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Hypsarrhythmia Facial asymmetry Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Overgrowth Specific learning disability Gastrointestinal hemorrhage Peripheral axonal neuropathy Paresthesia Brow ptosis Growth delay Low hanging columella Prominent nose Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Convex nasal ridge Dental malocclusion Exotropia Hypoplasia of the maxilla Single transverse palmar crease Highly arched eyebrow Iris coloboma Hirsutism Thick eyebrow Joint hypermobility Stereotypy Wide anterior fontanel Coloboma Congenital glaucoma Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Shawl scrotum Dislocated radial head Truncal obesity Low anterior hairline Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Narrow palate Unsteady gait Respiratory tract infection Failure to thrive Downslanted palpebral fissures Immunodeficiency Syndactyly Abnormality of the dentition Atrial septal defect Ventricular septal defect Dysphagia Frontal bossing Wide nasal bridge Pectus excavatum Hyperreflexia Epicanthus High palate Flexion contracture Low-set ears Cryptorchidism Muscular hypotonia Micrognathia Hypospadias Patent ductus arteriosus Postnatal growth retardation Thin upper lip vermilion Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Joint laxity Deeply set eye EEG abnormality Pes planus Arrhythmia Retrognathia Gastroesophageal reflux Polyhydramnios Narrow mouth Polydactyly Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Neuroblastic tumors


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