Lymphoma, and Malabsorption

Diseases related with Lymphoma and Malabsorption

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

Top matches:

Medium match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Other less relevant matches:

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Top 5 symptoms//phenotypes associated to Lymphoma and Malabsorption

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Leukemia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hepatomegaly Diarrhea Recurrent infections Seizures Growth delay Osteoporosis Gastrointestinal hemorrhage Weight loss Hearing impairment Respiratory insufficiency Abnormality of skin pigmentation Myopia Intrauterine growth retardation Splenomegaly Hypertension Abnormality of the skeletal system Epicanthus Headache Immunodeficiency Cellular immunodeficiency Autoimmunity Recurrent fractures Hypertelorism Microcephaly Cognitive impairment Strabismus Micrognathia Alopecia Lymphopenia Depressed nasal bridge Fatigue Lymphadenopathy Bone marrow hypocellularity Ataxia Hypermelanotic macule Hydrocephalus Brachycephaly Cardiomyopathy Pancytopenia Fine hair Abnormality of cardiovascular system morphology Abnormality of neutrophils Low-set, posteriorly rotated ears Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Sparse hair Neoplasm of the skin Abnormality of the fingernails Normocytic anemia Pruritus Multiple cafe-au-lait spots Specific learning disability Abnormal blistering of the skin Global developmental delay Cataract B-cell lymphoma Aganglionic megacolon Bone pain Cirrhosis Mucopolysacchariduria Sarcoma Impaired lymphocyte transformation with phytohemagglutinin Urticaria Cutis marmorata Hypersplenism Abnormal T cell morphology Ptosis Tracheoesophageal fistula Short neck Joint hyperflexibility Osteopenia Small hand Gastrointestinal stroma tumor Pneumonia Asthma Narrow face Abnormality of the kidney Spina bifida occulta Motor delay Sacral dimple Abnormal facial shape Aplasia/Hypoplasia of the thumb Anal stenosis Attention deficit hyperactivity disorder Craniosynostosis Pulmonary fibrosis Abnormality of epiphysis morphology Neurofibromas Portal hypertension Tibial bowing Reduced bone mineral density Overweight Atherosclerosis Abnormal form of the vertebral bodies Hydronephrosis Aplastic anemia Lumbar hyperlordosis Neutropenia Nystagmus High palate Hyperlordosis Delayed skeletal maturation Dilatation Lymphoproliferative disorder Migraine Vomiting Thrombocytosis Facial asymmetry Macrocytic anemia Steatorrhea Abnormal intestine morphology Hypocalcemia Chronic diarrhea Bowing of the long bones Cerebral calcification Polyneuropathy Postnatal growth retardation Arthralgia Abdominal pain Depressivity Failure to thrive Abnormal cardiac septum morphology Erythema Cryptorchidism Delayed speech and language development Wide nasal bridge Clinodactyly of the 5th finger Hypothyroidism Telecanthus Cutaneous photosensitivity Abnormality of chromosome stability Telangiectasia Low anterior hairline Myelodysplasia Combined immunodeficiency Telangiectasia of the skin Acute leukemia Skin rash Eczema Visual loss Prominent forehead Renal insufficiency Visual impairment Behavioral abnormality Pain Stroke Congestive heart failure Fever Peripheral neuropathy Proptosis Abnormal heart morphology Renal phosphate wasting Single ventricle Patellar hypoplasia Paralysis Anterior plagiocephaly Chronic myelogenous leukemia Oxycephaly Hypsarrhythmia Hand oligodactyly Limited elbow movement Schwannoma Genu valgum Lambdoidal craniosynostosis Aplasia/Hypoplasia of the patella Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Pulmonic stenosis Abnormal localization of kidney Lisch nodules Kyphoscoliosis Intellectual disability, mild Soft tissue sarcoma Epigastric pain Macrocephaly Dural ectasia Hyperactivity Glaucoma Osteosarcoma Autism Rectovaginal fistula Poikiloderma Autistic behavior Rib fusion Leiomyosarcoma Bilateral conductive hearing impairment Fibular bowing Dysarthria Hypoglycemia Hypertrophic cardiomyopathy Sagittal craniosynostosis Night sweats Neoplasm of the central nervous system Paraganglioma Pheochromocytoma Ulnar bowing Persistent cloaca Clitoral hypertrophy Bilateral radial aplasia Precocious puberty Aplasia of metacarpal bones Back pain Bicoronal synostosis Perineal fistula Limited shoulder movement Incoordination Breast carcinoma Carpal bone aplasia Tetralogy of Fallot Venous thrombosis Spina bifida Midface capillary hemangioma Sensorimotor neuropathy Abnormality of the cardiovascular system Anomalous splenoportal venous system Mitral valve prolapse Cafe-au-lait spot Coarctation of aorta Aphalangy of the hands Sensory axonal neuropathy Overgrowth Anomalous pulmonary venous return Metopic synostosis Complete atrioventricular canal defect Unilateral radial aplasia Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Brachyturricephaly Neoplasm of the endocrine system Meningioma Paresthesia Hypophosphatemia Gangrene Abnormality of the carpal bones Increased reactive oxygen species production Urogenital fistula Peripheral axonal neuropathy Severe vision loss Blindness Renal cell carcinoma Osteomalacia Freckling Flat forehead Pseudoarthrosis Abnormality of the ribs Renal artery stenosis Neonatal short-limb short stature Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Pulmonary lymphoma Spinal dysraphism Large face Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Generalized joint laxity Tracheal stenosis Fair hair Heart block Susceptibility to chickenpox Edema Exocrine pancreatic insufficiency Flushing Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Myeloproliferative disorder Generalized osteosclerosis Allergy Abnormality of blood and blood-forming tissues Arrhythmia Nausea Gastroesophageal reflux Hepatosplenomegaly Myalgia Papule Nausea and vomiting Ichthyosis Tachycardia Loss of consciousness Ascites Sudden cardiac death Hypotension Osteolysis Leukopenia Shock Upper limb undergrowth Distal arthrogryposis Renovascular hypertension Muscular hypotonia Joint hypermobility Micromelia Narrow chest Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Joint laxity Carcinoma EEG abnormality Skeletal dysplasia Macrotia Severe short stature Constipation Anteverted nares Brow ptosis Hypopigmentation of the skin Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Short palm Postural instability Esophageal atresia Abnormality of pelvic girdle bone morphology Hypoplasia of the odontoid process Hodgkin lymphoma Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Genu varum Disproportionate short-limb short stature Decreased antibody level in blood Rhizomelia Convex nasal ridge Chromosome breakage Blue sclerae Depressed nasal ridge Abnormality of the metaphysis Bronchiectasis Abnormality of retinal pigmentation Reduced tendon reflexes Gingival overgrowth Sparse and thin eyebrow Short ribs Sparse eyelashes Accelerated skeletal maturation Abnormal palate morphology Choanal stenosis Abnormality of the vasculature Coronal craniosynostosis Skin ulcer Blepharitis Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Aplasia/Hypoplasia of the skin Skin vesicle Macule Abnormality of coagulation Premature graying of hair Epiphora Dermal atrophy Hypopigmented skin patches Hepatic fibrosis Abnormal eyebrow morphology Hyperpigmentation of the skin Nail dysplasia Hypoplasia of the maxilla Hypodontia Palmoplantar keratoderma Hepatic failure Carious teeth Nail dystrophy Hyperkeratosis Diabetes mellitus Hyperhidrosis Recurrent respiratory infections Cerebellar hypoplasia Neoplasm of the pancreas Taurodontia Cryoglobulinemia Reticular hyperpigmentation Blepharophimosis Wide mouth Protruding ear Pectus excavatum Hypospadias Brachydactyly Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Nail pits Periodontitis Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Abnormality of female internal genitalia Ridged nail Oral leukoplakia Abnormality of the testis White hair Polyclonal elevation of IgM Monoclonal immunoglobulin M proteinemia Dry skin Irritability Celiac disease Malnutrition Abnormality of the coagulation cascade Rickets Spontaneous abortion Type I diabetes mellitus Hypoplasia of dental enamel Inflammatory abnormality of the skin Nevus Abdominal distention Infertility Delayed puberty Anxiety Thyroiditis Elevated hepatic transaminase Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Leukocytosis Psoriasiform dermatitis Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Abnormality of the nervous system Upslanted palpebral fissure IgA deficiency Iron deficiency anemia Multifocal epileptiform discharges Vasculitis Retinal hemorrhage Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Hypercoagulability Edema of the lower limbs Raynaud phenomenon Pulmonary infiltrates Gingival bleeding Elevated erythrocyte sedimentation rate Pleural effusion Cranial nerve paralysis Purpura Anorexia Chronic fatigue Epistaxis Memory impairment Vertigo Pallor Vitamin B12 deficiency Vitamin K deficiency Vitamin D deficiency Folate deficiency Abnormality of the abdominal wall Prolonged prothrombin time Recurrent aphthous stomatitis Stomatitis Prolonged partial thromboplastin time Toe syndactyly Short foot Shallow orbits Abnormal immunoglobulin level Agenesis of corpus callosum Short nose Ventricular septal defect Frontal bossing Downslanted palpebral fissures Optic atrophy Cleft palate Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Encephalomalacia Conductive hearing impairment Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Disproportionate short-trunk short stature Narrow mouth Prominent nasal bridge Thoracic kyphosis Trigonocephaly Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Absent radius Oligodactyly Short humerus Anteriorly placed anus Narrow nasal bridge Absent thumb Hallux valgus Hypoplasia of the ulna Failure to thrive in infancy Broad forehead Hypoplasia of the radius Abnormality of the metacarpal bones Abnormal vertebral morphology Short thumb Large fontanelles Renal dysplasia Hypotelorism Underdeveloped nasal alae Prominent nose Vesicoureteral reflux Bifid uvula Polymicrogyria Anal atresia Ovoid vertebral bodies Transient ischemic attack Delayed eruption of teeth Sparse lateral eyebrow Hip dislocation Corneal opacity Scarring Developmental regression Proteinuria Thin upper lip vermilion Dementia Kyphosis Cerebellar atrophy Abnormality of thumb phalanx Abnormality of female external genitalia Rectal prolapse Abnormality of the antihelix Astigmatism Hypoparathyroidism Acute lymphoblastic leukemia Underdeveloped supraorbital ridges Submucous cleft hard palate Delayed cranial suture closure Metatarsus adductus Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Sandal gap Wide anterior fontanel Broad thumb Sparse scalp hair Sloping forehead Platyspondyly Stage 5 chronic kidney disease Protuberant abdomen Azoospermia Glomerulopathy High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Hyperlipidemia Bulbous nose Opacification of the corneal stroma Heterotopia Abnormal lung morphology Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Telangiectasia macularis eruptiva perstans


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Leukoencephalopathy, related diseases and genetic alterations Fever and Dolichocephaly, related diseases and genetic alterations