Leukemia, and Abnormality of the dentition

Diseases related with Leukemia and Abnormality of the dentition

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

Top matches:

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

CYCLIC NEUTROPENIA Is also known as cyclic hematopoiesis

Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYCLIC NEUTROPENIA

Other less relevant matches:

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 3; BMFS3

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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

Top 5 symptoms//phenotypes associated to Leukemia and Abnormality of the dentition

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Eczema Growth delay Carious teeth Acute myeloid leukemia Myeloid leukemia

Rare Symptoms - Less than 30% cases

Immunodeficiency Visual impairment Failure to thrive Hyperkeratosis Abnormality of skin pigmentation Prominent forehead Melanoma Recurrent infections Microdontia Pancytopenia Bone marrow hypocellularity Skeletal dysplasia Global developmental delay Acute lymphoblastic leukemia Pain Type I diabetes mellitus Respiratory tract infection Frontal bossing Recurrent respiratory infections Lymphadenopathy Sepsis Recurrent bacterial infections Osteopenia Carcinoma Myelodysplasia Multiple lipomas Edema Acute monocytic leukemia Recurrent aphthous stomatitis Leukopenia Hemolytic anemia Autoimmunity Kyphosis Ventricular septal defect Macrocephaly Upper limb undergrowth Short 4th metacarpal Depressed nasal bridge Generalized tonic-clonic seizures Lower limb hyperreflexia Mild short stature Pes cavus Polydactyly Foot dorsiflexor weakness Gingival overgrowth Umbilical hernia Recurrent otitis media Duodenal adenocarcinoma Strabismus Cholangiocarcinoma Papillary thyroid carcinoma Hepatoblastoma Keloids Thoracic kyphoscoliosis Chondrosarcoma Absent gallbladder Intestinal polyp Adrenocortical carcinoma Multiple impacted teeth Colorectal polyposis Fibroadenoma of the breast Hypertelorism Osteoma Abdominal mass Multiple gastric polyps Unerupted tooth Adenomatous colonic polyposis Odontoma Small intestine carcinoid Desmoid tumors Duodenal polyposis Congenital hypertrophy of retinal pigment epithelium Abnormality of chromosome segregation Intellectual disability, mild Short 5th metacarpal Recurrent viral infections Nephrocalcinosis Coxa vara Metaphyseal widening Neonatal respiratory distress Short thorax Steatorrhea Exocrine pancreatic insufficiency Ovoid vertebral bodies Aplastic anemia Metaphyseal chondrodysplasia Decreased liver function Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Narrow sacroiliac notch Short ribs Abnormality of the metaphysis Ectopic calcification Abnormality of the skeletal system Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Generalized hypotonia Scoliosis Hepatomegaly Gait disturbance Respiratory distress Apraxia Adrenocortical adenoma Delayed skeletal maturation Elevated hepatic transaminase Pectus carinatum Small for gestational age Malabsorption Narrow chest Ichthyosis Generalized muscle weakness Specific learning disability Epidermoid cyst Infertility Stomach cancer Interstitial pulmonary abnormality Arthralgia Hepatosplenomegaly Arthritis Delayed puberty Decreased antibody level in blood Inflammatory abnormality of the skin Abnormal lung morphology Lymphopenia Abnormal intestine morphology Colitis Diabetes mellitus Celiac disease Scleroderma Autoimmune hemolytic anemia Autoimmune thrombocytopenia Atopic dermatitis Recurrent ear infections Primary hypothyroidism Interstitial pneumonitis Cataract Hypothyroidism Pneumonia Vomiting Periodontitis Abnormal erythrocyte morphology Fatigue Abdominal pain Eosinophilia Recurrent skin infections Growth abnormality Overlapping toe Increased antibody level in blood Thrombocytosis Congenital neutropenia Chromosome breakage Oral ulcer Monocytosis Abnormal eosinophil morphology Cyclic neutropenia Congenital agranulocytosis Microcephaly Intrauterine growth retardation Dysphagia Retinal dystrophy Hypodontia Feeding difficulties Diarrhea Glioma Chorioretinal atrophy Kyphoscoliosis Intellectual disability, moderate Hyperpigmentation of the skin Horseshoe kidney Hyperextensible skin Sarcoma Precocious puberty Intestinal obstruction Colon cancer Agenesis of permanent teeth Lamellar cataract Neurofibromas Increased number of teeth Neoplasm of the lung Increased circulating cortisol level Brain neoplasm Astrocytoma Thyroid carcinoma Intestinal polyposis Medulloblastoma Acrokeratosis Acantholysis Alopecia Overgrowth Osteoporosis Hyperhidrosis Hypogonadism Postnatal growth retardation Erythema Sparse hair Skin rash Hypopigmentation of the skin Abnormal blistering of the skin Cutaneous photosensitivity Concave nasal ridge Sparse scalp hair Telangiectasia Erythroderma Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Poikiloderma Irregular ossification at anterior rib ends


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