Lymphoma, and Dyskinesia

Diseases related with Lymphoma and Dyskinesia

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

Top matches:

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Dyskinesia
  • Neutropenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY

Carboxylesterase-1 (OMIM ) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).

Related symptoms:

  • Hyperactivity
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • Chronic lymphatic leukemia


SOURCES: OMIM MENDELIAN

More info about DRUG METABOLISM, ALTERED, CES1-RELATED

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10|pkd|paroxysmal kinesigenic choreathetosis|dystonia, familial paroxysmal|pkc|familial paroxysmal kinesigenic dyskinesia|familial pkd|paroxysmal kinesigenic dyskinesia|dyt10|paroxysmal kinesigenic choreoathetosis

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL KINESIGENIC DYSKINESIA

Other less relevant matches:

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

Related symptoms:

  • Seizures
  • Dystonia
  • Generalized tonic-clonic seizures
  • Dyskinesia
  • Choreoathetosis


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 27; SPGF27

Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 20; SPGF20

Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Male infertility


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 18; SPGF18

Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Reduced sperm motility


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 19; SPGF19

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

Top 5 symptoms//phenotypes associated to Lymphoma and Dyskinesia

Symptoms // Phenotype % cases
Ciliary dyskinesia Uncommon - Between 30% and 50% cases
Infertility Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Immunodeficiency Rare - less than 30% cases
Paroxysmal choreoathetosis Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Recurrent infections Anemia Choreoathetosis Dystonia Hodgkin lymphoma Neoplasm Leukemia Hyperactivity Paroxysmal dystonia Focal sensory seizure Male infertility Shivering Global developmental delay Generalized tonic-clonic seizures Decreased proportion of CD4-positive T cells Recurrent respiratory infections Attention deficit hyperactivity disorder Respiratory tract infection Lymphadenopathy Bronchiectasis Lymphopenia Papilloma B-cell lymphoma Writer's cramp Recurrent sinopulmonary infections Lymphoproliferative disorder Paroxysmal dyskinesia Cerebral palsy Orofacial dyskinesia Myoclonus Pneumonia Neutropenia Recurrent urinary tract infections Aspiration Myelodysplasia Dextrocardia Congenital neutropenia Chronic lymphatic leukemia Muscle weakness Abnormality of movement Neoplasm of the endocrine system Paresthesia Chorea Migraine Focal-onset seizure Involuntary movements Abnormality of the face Athetosis Loss of consciousness Hyperventilation Hypoparathyroidism Reduced sperm motility


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