Anemia, and Sarcoma

Diseases related with Anemia and Sarcoma

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


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. 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. 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 blood group system (see {111300}). 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, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY


Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Low match BLOOD GROUP, MN; MN


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

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match DESMOPLASTIC SMALL ROUND CELL TUMOR


Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

Top 5 symptoms//phenotypes associated to Anemia and Sarcoma

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Splenomegaly Rare - less than 30% cases
Abdominal pain Rare - less than 30% cases
Nausea and vomiting Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Anemia and Sarcoma. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Lymphadenopathy Myeloid leukemia Ascites Weight loss Mediastinal lymphadenopathy Pain Hepatomegaly Ileus Refractory anemia Abdominal mass Monocytosis Juvenile myelomonocytic leukemia Acute myelomonocytic leukemia Chronic myelomonocytic leukemia Hypertension Fatigue Diarrhea Headache Arrhythmia Abnormality of the peritoneum Testicular neoplasm Neoplasm of the central nervous system Tachycardia Adrenal overactivity Paraganglioma Constipation Gastrointestinal stroma tumor Leiomyosarcoma Abdominal distention Cachexia Adrenocortical adenoma Ovarian neoplasm Neoplasm of the pancreas Acute monocytic leukemia Pheochromocytoma Neoplasm of the lung Pulmonary infiltrates Anorexia Gastrointestinal hemorrhage Myeloproliferative disorder Narrow mouth Facial hypotonia Basal cell carcinoma Coombs-positive hemolytic anemia Pancytopenia Respiratory tract infection Immunodeficiency Keratoacanthoma Adenoma sebaceum Papilloma Neoplasm of the skin Fever Meningitis Skin ulcer Subcutaneous nodule Abnormality of the skin Papule Carcinoma Hyperkeratosis Hyperpigmentation of the skin Kaposi's sarcoma Paralysis Acute myeloid leukemia Ewing sarcoma Neurofibromas Myelodysplasia Anteverted nares Abnormal facial shape Generalized hypotonia Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Primitive neuroectodermal tumor Paraplegia Burkitt lymphoma Chronic myelogenous leukemia Meningioma Acute lymphoblastic leukemia Neuroblastoma Leukocytosis Pleural effusion Lymphoma Gastrointestinal obstruction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Dehydration, related diseases and genetic alterations Macrocephaly and Nail dysplasia, related diseases and genetic alterations Hydrocephalus and Generalized muscle weakness, related diseases and genetic alterations Skeletal muscle atrophy and Abdominal pain, related diseases and genetic alterations Anemia and Thick vermilion border, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more