Leukemia, and Malabsorption

Diseases related with Leukemia and Malabsorption

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

Top matches:

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

Low 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

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:

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

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

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

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

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

Top 5 symptoms//phenotypes associated to Leukemia 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
Hepatomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Lymphoma

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Global developmental delay Abnormality of the skeletal system Recurrent infections Diarrhea Microcephaly Growth delay Gastrointestinal hemorrhage Immunodeficiency Lymphadenopathy Hearing impairment Delayed skeletal maturation Respiratory insufficiency Cataract Seizures Aplastic anemia Ptosis Normocytic anemia Failure to thrive Specific learning disability Pain Micrognathia Epicanthus Abnormality of neutrophils Blue sclerae Myelodysplasia Depressed nasal bridge Ataxia Brachycephaly Abnormality of skin pigmentation Strabismus Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Pancytopenia Weight loss Hypertension Bone marrow hypocellularity Osteoporosis Hepatosplenomegaly Headache Recurrent fractures Edema

Rare Symptoms - Less than 30% cases

Skin rash Nystagmus Abnormal facial shape Muscular hypotonia Hypertelorism Abnormal heart morphology Erythema Neoplasm of the skin Sarcoma Arthralgia Myopia Hydrocephalus Abnormality of cardiovascular system morphology Abnormality of the fingernails Lymphopenia Hypoplastic anemia Overweight Attention deficit hyperactivity disorder Urticaria Joint hyperflexibility Anteverted nares Fever Peripheral neuropathy Cutis marmorata Impaired lymphocyte transformation with phytohemagglutinin Decreased antibody level in blood Neutropenia Short thorax Metaphyseal widening Metaphyseal chondrodysplasia Short ribs Abnormality of the metaphysis Cellular immunodeficiency Eczema Fatigue Sepsis Neurofibromas Carious teeth Abdominal pain Narrow chest Pectus carinatum Elevated hepatic transaminase Skeletal dysplasia Osteopenia Intellectual disability, mild Pulmonary fibrosis Glaucoma Generalized hypotonia Metaphyseal dysostosis Dilatation Pruritus Visual loss Small hand Cerebellar hypoplasia Wide nasal bridge Abnormal blistering of the skin Delayed speech and language development Telangiectasia Bone pain Visual impairment Leukopenia Sparse hair Chronic leukemia Sacral dimple Abnormal cardiac septum morphology Spina bifida Anal stenosis Asthma Genu varum Aganglionic megacolon Gastrointestinal stroma tumor Hypersplenism Cognitive impairment Coarctation of aorta Allergy Alopecia Acute leukemia Abnormality of the dentition Hypermelanotic macule Tetralogy of Fallot Portal hypertension Intrauterine growth retardation Cryptorchidism Exocrine pancreatic insufficiency Hypoglycemia Abnormality of chromosome stability Kyphoscoliosis Fine hair Telangiectasia of the skin Tibial bowing Leukocytosis Broad thumb Cardiomyopathy Low anterior hairline Cutaneous photosensitivity Ichthyosis Telecanthus Pneumonia Cirrhosis Abnormality of the nervous system Acute promyelocytic leukemia Vestibular Schwannoma Intellectual disability, severe Hip dislocation Neuroma Neurofibrosarcoma Optic nerve glioma Intestinal malrotation Subcutaneous neurofibromas Tibial pseudoarthrosis Cerebral artery stenosis Talipes equinovarus Severe global developmental delay Atrial septal defect Embryonal rhabdomyosarcoma Ventricular septal defect Motor delay Cleft palate Sensorineural hearing impairment Plexiform neurofibroma Arterial fibromuscular dysplasia Inguinal freckling Malar flattening Abnormality of the kidney Cleft lip Agenesis of corpus callosum Brow ptosis Spinal neurofibromas Finger syndactyly Myocardial fibrosis Axillary freckling Reduced bone mineral density Severe vision loss Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Incoordination Breast carcinoma Venous thrombosis Gangrene Atherosclerosis Sensorimotor neuropathy Cafe-au-lait spot Hypsarrhythmia Mitral valve prolapse Abnormality of the cardiovascular system Overgrowth Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Pulmonic stenosis Increased reactive oxygen species production Meningioma Renovascular hypertension Schwannoma Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Glioma Neoplasm of the endocrine system Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Focal-onset seizure Nevus flammeus of the forehead Ventricular hypertrophy Abnormality of pelvic girdle bone morphology Esophageal atresia Hypoplasia of the odontoid process Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Squamous cell carcinoma Cone-shaped epiphysis Disproportionate short-limb short stature Thrombocytosis Reduced tendon reflexes Abnormal palate morphology Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Depressed nasal ridge Distal arthrogryposis Upper limb undergrowth Abnormality of the ribs Neonatal short-limb short stature Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Heart block Spinal dysraphism Large face Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Lumbar hyperlordosis Convex nasal ridge Cerebellar vermis hypoplasia Cardiorespiratory arrest Lateral clavicle hook Phocomelia Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Delayed CNS myelination Duodenal atresia Chromosome breakage Patellar dislocation Cervical ribs Carpal synostosis Nevus flammeus Megalocornea Absent radius Focal impaired awareness seizure Intracranial hemorrhage Hypoplasia of the radius Eosinophilia Adducted thumb Hemangioma Coxa valga Horseshoe kidney Short phalanx of finger Left ventricular hypertrophy Generalized tonic-clonic seizures with focal onset Aplasia/Hypoplasia of the ulna Postural instability Short neck Hypopigmentation of the skin Short palm Joint hypermobility Micromelia Hypotrichosis Arthrogryposis multiplex congenita Hyperlordosis Joint laxity Carcinoma EEG abnormality Macrotia Prominent forehead Severe short stature Constipation Cow milk allergy Abnormality of the shoulder Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Autistic behavior Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Paralysis Nail pits Hypertrophic cardiomyopathy Respiratory distress Neonatal respiratory distress Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Decreased liver function Apraxia Microdontia Generalized muscle weakness Small for gestational age Respiratory tract infection Gait disturbance Multiple lipomas Polyclonal elevation of IgM Cryoglobulinemia Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Hypercoagulability Edema of the lower limbs Raynaud phenomenon Steatorrhea Myeloid leukemia Gingival bleeding Irregular ossification at anterior rib ends Acidosis Cerebral cortical atrophy Posteriorly rotated ears Elevated serum creatine phosphokinase Obesity Cerebral atrophy Vomiting Cerebellar atrophy Myopathy Downslanted palpebral fissures Optic atrophy Low-set ears Narrow sacroiliac notch Acute myeloid leukemia Proximal femoral epiphysiolysis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Ovoid vertebral bodies Pulmonary infiltrates Elevated erythrocyte sedimentation rate Dolichocephaly Abnormality of blood and blood-forming tissues Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Myeloproliferative disorder Generalized osteosclerosis Flushing Loss of consciousness Anaphylactic shock Shock Osteolysis Hypotension Sudden cardiac death Ascites Tachycardia Nausea Nausea and vomiting Papule Myalgia Gastroesophageal reflux Arrhythmia Cutaneous mastocytosis Telangiectasia macularis eruptiva perstans Pleural effusion Proptosis Cranial nerve paralysis Purpura Vasculitis Anorexia Epistaxis Memory impairment Migraine Polyneuropathy Vertigo Stroke Autoimmunity Pallor Renal insufficiency Upslanted palpebral fissure Congestive heart failure Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Psoriasiform dermatitis Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Hypothyroidism Abnormality of the liver Lactic acidosis Autism Absent lacrimal punctum Toe syndactyly Blepharophimosis Wide mouth Craniosynostosis Protruding ear Postnatal growth retardation Hydronephrosis Pectus excavatum Hypospadias Brachydactyly High palate Esophageal stenosis Short foot Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Dry skin Delayed eruption of teeth Abnormality of female internal genitalia Acute lymphoblastic leukemia Hyperactivity Depressivity Behavioral abnormality Blindness Macrocephaly Dysarthria Abnormality of thumb phalanx Abnormality of female external genitalia Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Underdeveloped supraorbital ridges Sloping forehead Submucous cleft hard palate Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Sandal gap Spina bifida occulta Narrow face Wide anterior fontanel Chronic diarrhea Sparse scalp hair Testicular atrophy Ridged nail Retinal dystrophy Agenesis of cerebellar vermis Hyperkeratosis Diabetes mellitus Hyperhidrosis Recurrent respiratory infections Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Therapeutic abortion Glutathione synthetase deficiency Extramedullary hematopoiesis Cholestatic liver disease Hepatic failure Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Large fontanelles Clumsiness Underdeveloped nasal alae Aciduria Nevus Progressive cerebellar ataxia Triangular face Metabolic acidosis Nail dystrophy Palmoplantar keratoderma Oral leukoplakia Macule Abnormality of the testis White hair Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Aplasia/Hypoplasia of the skin Skin vesicle Abnormality of coagulation Hypodontia Premature graying of hair Epiphora Tracheoesophageal fistula Dermal atrophy Hypopigmented skin patches Abnormal intestine morphology Skin ulcer Hepatic fibrosis Hyperpigmentation of the skin Cerebral calcification Nail dysplasia Hypoplasia of the maxilla Pulmonary lymphoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Short foot, related diseases and genetic alterations High palate and High myopia, related diseases and genetic alterations Peripheral neuropathy and Hypoplasia of the maxilla, related diseases and genetic alterations Cleft palate and Telecanthus, related diseases and genetic alterations Micrognathia and Intellectual disability, mild, related diseases and genetic alterations