Lymphoma, and Macroglossia

Diseases related with Lymphoma and Macroglossia

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

Top matches:

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

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

Other less relevant matches:

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Macroglossia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hearing impairment Leukemia Seizures Peripheral neuropathy Immunodeficiency Edema Generalized hypotonia Muscular hypotonia Weight loss Scoliosis Peripheral demyelination Sensory neuropathy Telangiectasia Ataxia Short neck Cranial nerve paralysis Short nose Hyporeflexia Areflexia Recurrent infections Thrombocytopenia Acute lymphoblastic leukemia Foot dorsiflexor weakness Motor delay Atrial septal defect Hodgkin lymphoma Tremor Micrognathia Myopia

Rare Symptoms - Less than 30% cases

Abnormality of the nervous system Hamartoma Hammertoe Hashimoto thyroiditis Low anterior hairline Hoarse voice Decreased motor nerve conduction velocity Axonal loss Segmental peripheral demyelination/remyelination Hamartomatous polyposis Lipoma Intestinal polyposis Respiratory insufficiency Cleft upper lip Wide nose Paresthesia Arteriovenous malformation Decreased nerve conduction velocity Abnormality of movement Myoclonus Macrotia Delayed gross motor development Brachycephaly Recurrent respiratory infections Mental deterioration Neutropenia Anal atresia Hypotrichosis Microtia Developmental regression Hydronephrosis Conductive hearing impairment Neurodegeneration Upslanted palpebral fissure Polyneuropathy Abnormal heart morphology Protruding tongue Pes cavus Multiple lipomas Gait disturbance Epicanthus Depressed nasal bridge Anemia Narrow palate Strabismus Cutaneous photosensitivity Multiple cafe-au-lait spots Meningioma Cachexia Ectropion High palate Long philtrum Cafe-au-lait spot Brachydactyly Lymphadenopathy Macrocephaly Anteverted nares Chronic diarrhea Subcutaneous nodule Broad thumb Abnormality of the face Hyperactivity Frontal bossing Cognitive impairment Hydrocephalus Myopathy Irregular hyperpigmentation Diarrhea Growth delay Palmoplantar keratoderma Microcephaly Dilatation Pectus excavatum T-cell lymphoma Narrow mouth Hypothyroidism Lymphopenia Intellectual disability, moderate Hepatomegaly Hepatosplenomegaly Abnormal facial shape Pain Fever Cataract Splenomegaly Breast carcinoma Melanocytic nevus Low-set ears Retrognathia Failure to thrive Cutis marmorata Hypertelorism Neoplasm of the skin Intracranial hemorrhage Nevus Joint hyperflexibility Neurological speech impairment Dystonia Tall stature Abnormality of the sternum Long palpebral fissure Intellectual disability, severe Lymphedema Dolichocephaly Facial edema Esophageal atresia Hypoglycemia Small thenar eminence Inverted nipples Delayed skeletal maturation Small posterior fossa Duplication of phalanx of hallux Ventriculomegaly Depressed nasal tip Widow's peak Retinal coloboma Prominent fingertip pads U-Shaped upper lip vermilion Unilateral ptosis Congenital ptosis Camptodactyly Microphthalmia Oral cleft Bifid uvula Highly arched eyebrow Everted lower lip vermilion Micropenis Mandibular prognathia Thick vermilion border Coarse facial features Iris coloboma Aortic aneurysm Smooth philtrum Webbed neck Arthrogryposis multiplex congenita Thin upper lip vermilion Broad forehead Coloboma Wide mouth Joint stiffness Abnormality of the pinna Cleft lip Postnatal growth retardation Cerebral cortical atrophy High myopia Midface retrusion Abnormality of the outer ear Tracheoesophageal fistula Abnormality of metabolism/homeostasis Patent ductus arteriosus Agenesis of corpus callosum Chorioretinal coloboma Overfolded helix Trigonocephaly Feeding difficulties in infancy Redundant skin Posteriorly rotated ears Low posterior hairline Bicuspid aortic valve Lissencephaly Spontaneous abortion Pointed chin Aortic valve stenosis Postnatal microcephaly Heterotopia Pachygyria Hypertrichosis Short palpebral fissure Bilateral ptosis Brain atrophy Capillary hemangioma Hemolytic anemia Recurrent pneumonia Abnormality of the hair Sinusitis Bronchiectasis Recurrent urinary tract infections Choanal atresia Primary amenorrhea Sloping forehead Amenorrhea Convex nasal ridge Otitis media Prominent nose Small for gestational age Premature ovarian insufficiency Prominent nasal bridge Attention deficit hyperactivity disorder Respiratory failure Pneumonia Hypospadias Intrauterine growth retardation Cleft palate Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Deep philtrum Abnormality of neuronal migration Hypofibrinogenemia Abnormality of chromosome stability Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Combined immunodeficiency Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormal leukocyte morphology Oculogyric crisis Abnormality of the optic nerve Jaundice Parkinsonism Abnormal bleeding Hypopigmentation of the skin Bruising susceptibility Falls Peripheral axonal neuropathy Paraplegia Spastic paraplegia Abnormality of the eye Rigidity Photophobia Difficulty walking Reduced visual acuity Gastrointestinal hemorrhage Cerebellar atrophy Visual impairment Nystagmus Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Thyroid carcinoma Angina pectoris Wide nasal bridge Bradykinesia Recurrent bacterial skin infections Gingival bleeding Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Hypopigmentation of hair Abnormality of extrapyramidal motor function Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Albinism Abnormality of vision Leukopenia Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Epistaxis Pancytopenia Abnormality of the skeletal system Abnormal nervous system electrophysiology Feeding difficulties Angioid streaks of the fundus Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Transitional cell carcinoma of the bladder Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Acrokeratosis Neoplasm of the thyroid gland Cellular immunodeficiency Abnormality of cardiovascular system morphology Downturned corners of mouth Postaxial polydactyly Short palm Flat face Joint laxity Umbilical hernia Polydactyly Dementia Clinodactyly of the 5th finger Obesity Malar flattening Fibroadenoma of the breast Abnormality of the dentition Hypertension Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Long penis Bone cyst Postural instability Joint hypermobility Hemangioma Drooling Gynecomastia Exotropia Intention tremor Overgrowth Decreased antibody level in blood Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Nausea and vomiting Hypopigmented skin patches Papule Abnormality of the kidney Carcinoma Proximal muscle weakness Autism Headache Kyphosis Intellectual disability, mild Downslanted palpebral fissures Delayed speech and language development Increased intracranial pressure Melanoma Ovarian cyst Renal cell carcinoma Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Thyroiditis Goiter Ovarian neoplasm Hyperthyroidism Acute myeloid leukemia Cellulitis Cystic hygroma Abnormality of the thyroid gland Macule Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Single transverse palmar crease Microdontia Flexion contracture Myelin outfoldings Tetraparesis Hypotelorism Generalized muscle weakness Muscle cramps Inability to walk Confusion Paralysis Fatigue Cold-induced muscle cramps Progressive distal muscular atrophy Hypertrophic nerve changes Abnormality of the voice Ulnar claw Axonal regeneration Hypopnea Demyelinating peripheral neuropathy Onion bulb formation Decreased number of peripheral myelinated nerve fibers Neurofibromas Steppage gait Sleep apnea Progressive muscle weakness Back pain Axonal degeneration Delayed myelination Erythroderma Ptosis Cryptorchidism Sensorineural hearing impairment Skeletal muscle hypertrophy Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology Lichenification Abnormality of the pleura Gangrene Thickened skin Vocal cord paralysis Dry skin Nail dystrophy Pruritus Skin rash Alopecia Brachial plexus neuropathy Myelin tomacula Vocal cord paresis Abnormal myelination Low back pain Constrictive median neuropathy Split hand Distal sensory impairment Type II diabetes mellitus Atrioventricular canal defect Thrombocytosis Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Transposition of the great arteries Broad palm Decreased fertility Double outlet right ventricle Hydroureter Alzheimer disease Cholelithiasis Renal hypoplasia/aplasia Sandal gap Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Depressed nasal ridge Thick lower lip vermilion Thickened nuchal skin fold Hypoplastic iliac wing Distal amyotrophy Crackles Abnormality of the foot Limb muscle weakness Distal muscle weakness Apnea Kyphoscoliosis Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Atlantoaxial instability Senile plaques Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Progressive vitiligo


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