Lymphoma, and Choanal atresia

Diseases related with Lymphoma and Choanal atresia

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

Top matches:

Low match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC 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

Low match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Other less relevant matches:

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

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

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION Is also known as rs-scid|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation

Related symptoms:

  • Failure to thrive
  • Fever
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Top 5 symptoms//phenotypes associated to Lymphoma and Choanal atresia

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphopenia Leukemia Recurrent respiratory infections Pneumonia Short stature Hypospadias Respiratory tract infection Growth delay Neoplasm Cleft palate Abnormality of the skeletal system Recurrent urinary tract infections Global developmental delay Failure to thrive B-cell lymphoma Recurrent pneumonia Autoimmune hemolytic anemia Sinusitis Bronchiectasis Chronic diarrhea Otitis media Micrognathia Anal atresia Intrauterine growth retardation Diarrhea Hemolytic anemia Hepatomegaly Hydronephrosis Lymphadenopathy Skin rash Pancytopenia Splenomegaly Neutropenia Hearing impairment Recurrent upper respiratory tract infections

Rare Symptoms - Less than 30% cases

Telangiectasia Cafe-au-lait spot Acute monocytic leukemia Absent radius Aplasia/Hypoplasia of the radius Acute myeloid leukemia Sloping forehead Chromosome breakage Prominent nose Abnormality of the kidney Respiratory failure Abnormal localization of kidney Small for gestational age Prominent nasal bridge Squamous cell carcinoma Upslanted palpebral fissure Recurrent sinusitis Purpura Decreased antibody level in blood Recurrent infections Ataxia Absent thumb Hypoplasia of the ulna Combined immunodeficiency Abnormal vertebral morphology Abnormal cardiac septum morphology Proptosis Abnormal heart morphology Abnormality of cardiovascular system morphology Facial asymmetry Hydrocephalus Bruising susceptibility Frontal bossing Fatigue Short thumb Epicanthus High palate Strabismus Carcinoma Myelodysplasia Nystagmus Hypertelorism Scoliosis Abnormality of chromosome stability Recurrent sinopulmonary infections Tracheoesophageal fistula Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Neuroblastoma Microcephaly Umbilical hernia Aplasia/Hypoplasia of the thumb Renal agenesis Cryptorchidism Hydroureter Depressed nasal bridge Duplicated collecting system Renal dysplasia External ear malformation Dilatation Cleft upper lip Renal hypoplasia/aplasia Vesicoureteral reflux Toe syndactyly Finger syndactyly Narrow mouth Low-set, posteriorly rotated ears Conductive hearing impairment Motor delay Downslanted palpebral fissures Brachycephaly Optic atrophy Prominent forehead Agenesis of corpus callosum Myopia Short nose Ventricular septal defect Behavioral abnormality Aplasia/Hypoplasia of the breasts Craniosynostosis Spina bifida occulta Short humerus Anteriorly placed anus Narrow nasal bridge Hallux valgus Trigonocephaly Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Narrow face Hyperkeratosis Large fontanelles Bowing of the long bones Hypotelorism Underdeveloped nasal alae Bifid uvula Polymicrogyria Malabsorption Broad forehead Abnormality of the preputium Seizures Neoplasm of head and neck Pyridoxine-responsive sideroblastic anemia Bicornuate uterus Reticulocytopenia Micropenis Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Photophobia Abnormality of femur morphology Abnormality of the thumb Abnormality of nervous system morphology Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna Cleft lip Irregular hyperpigmentation Abnormal aortic morphology Primary hypothyroidism Aplasia/Hypoplasia of fingers Absent testis Aplasia/Hypoplasia of the uvula Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Hypoplastic anemia Duodenal stenosis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Oligodactyly Coronal craniosynostosis Fibular hypoplasia Autoimmunity Enlarged tonsils Chronic lymphatic leukemia Allergy Neurodevelopmental delay Inflammation of the large intestine Recurrent bacterial infections Flexion contracture Malar flattening Hepatic failure Arthritis Syndactyly Refractory anemia Impaired platelet aggregation Prolonged bleeding time Epistaxis Abnormal bleeding Hernia Sensorineural hearing impairment Chronic infection Opportunistic infection Hepatosplenomegaly Monocytosis Follicular hyperplasia Lymphocytosis Lymphoproliferative disorder Autoimmune thrombocytopenia Increased antibody level in blood Vasculitis Cardiac arrest Absent tonsils Cirrhosis Lymph node hypoplasia Genital ulcers Panhypogammaglobulinemia Increased sensitivity to ionizing radiation Aplasia of the thymus Oral ulcer Severe combined immunodeficiency Recurrent skin infections Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans Abnormality of the ureter Sagittal craniosynostosis Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Anterior plagiocephaly Oxycephaly Bilateral conductive hearing impairment Metopic synostosis Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Blepharophimosis Shallow orbits Carpal synostosis Brachyturricephaly Abnormality of the carpal bones Papilloma Anomalous splenoportal venous system Bronchiolitis Hodgkin lymphoma Polydactyly Psoriasiform dermatitis Recurrent otitis media Inflammatory abnormality of the skin Unilateral radial aplasia Aphalangy of the hands Midface capillary hemangioma Urogenital fistula Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Sparse hair Ectopic kidney Abnormality of blood and blood-forming tissues Depressed nasal tip Long nose Non-midline cleft lip Split foot Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Low anterior hairline Abnormality of the musculature Blue irides Abnormality of the hair Taurodontia Fair hair Corneal erosion Generalized hypopigmentation Sparse axillary hair Abnormality of the face Freckling Xerostomia Cutaneous photosensitivity Abnormal hair quantity Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Rhabdomyosarcoma Blepharitis Glioma Keratitis Medulloblastoma Aplasia/Hypoplasia of the skin Recurrent bronchitis Hypoplastic nipples Ectrodactyly Anal stenosis Primary amenorrhea Dysuria Malar prominence Abnormality of the middle ear Thin nail Respiratory insufficiency Short neck Skeletal muscle atrophy Abnormality of the nasopharynx Muscle weakness Nail pits Ureterocele Selective tooth agenesis Dacryocystitis Urethral atresia Megacystis Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Urethral stenosis Central diabetes insipidus Amenorrhea Slow-growing hair Convex nasal ridge Sparse pubic hair Hypoplasia of the thymus Neurodegeneration Anterior hypopituitarism Lacrimation abnormality Entropion Aplasia/Hypoplasia of the nipples Inflammatory abnormality of the eye Attention deficit hyperactivity disorder Mental deterioration Intellectual disability, moderate Abnormality of the nervous system Retrognathia Macrotia Bladder diverticulum Hyperactivity Dysgammaglobulinemia Mastoiditis Microtia Tetralogy of Fallot Insulin resistance Oral cleft Aganglionic megacolon Abnormality of the genital system Short palpebral fissure Thick eyebrow Oligohydramnios Hypopigmentation of the skin Hypergonadotropic hypogonadism Hypoplasia of the maxilla Hypodontia Abnormality of skin pigmentation Vertigo Astigmatism Nevus Abnormality of the foot Dolichocephaly Spina bifida Bone marrow hypocellularity Abnormality of the liver Dry skin Multiple cafe-au-lait spots Myeloid leukemia Abnormality of the inner ear Nail dystrophy Glucose intolerance Carious teeth Triphalangeal thumb Hyperinsulinemia Horseshoe kidney Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Hip dislocation Postnatal growth retardation Progressive vitiligo Visual impairment Ventriculomegaly Hypoplasia of dental enamel Hypohidrosis Sparse and thin eyebrow Hyperreflexia Hypogonadotrophic hypogonadism Abnormality of dental enamel Sparse eyelashes Split hand Cutaneous syndactyly Ptosis Cataract Abnormal facial shape Coarse hair Reduced number of teeth Proximal placement of thumb Hypoplastic toenails Respiratory distress Atrial septal defect Irritability Diabetes mellitus Ectodermal dysplasia Abnormality of the eye Hypertrophic cardiomyopathy Growth hormone deficiency Pes planus Hypothyroidism Microdontia Weight loss Hypogonadism Congestive heart failure Severe short stature Clinodactyly of the 5th finger Fine hair Patent ductus arteriosus Sparse scalp hair Headache Microphthalmia Renal insufficiency Decreased lymphocyte apoptosis


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