Leukemia, and Dehydration

Diseases related with Leukemia and Dehydration

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

Top matches:

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

Other less relevant matches:

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

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

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Top 5 symptoms//phenotypes associated to Leukemia and Dehydration

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Vomiting Coma Thrombocytopenia Lethargy Neutropenia Intellectual disability Pancytopenia Hepatomegaly Generalized hypotonia Immunodeficiency Methylmalonic aciduria Hypertelorism Skin rash Feeding difficulties in infancy Methylmalonic acidemia Aciduria Fever Metabolic acidosis Hyperglycinemia Respiratory distress Acidosis Hyperammonemia Decreased antibody level in blood Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Constipation Ketonuria Long philtrum Decreased methylmalonyl-CoA mutase activity Recurrent infections Neoplasm Homocystinuria Decreased adenosylcobalamin Ketosis Osteopenia Fatigue Stroke Growth hormone deficiency Chronic otitis media Abnormality of mitochondrial metabolism Leukopenia Sinusitis Sepsis Malabsorption Weight loss Diarrhea Bone marrow hypocellularity Short nose Osteoporosis Ptosis Orthostatic hypotension High palate Hearing impairment Growth delay Syncope Optic atrophy Hypotension Vertigo Nocturia Epicanthus Hypoglycemia Recurrent sinusitis Lymphopenia External ear malformation Agammaglobulinemia Verrucae Skin ulcer IgA deficiency Bronchitis Combined immunodeficiency Severe combined immunodeficiency Cellulitis Hypoplasia of the thymus Cellular immunodeficiency Abnormality of neutrophils Impaired T cell function Granulocytopenia Abnormality of the thymus Aplasia of the thymus Aplasia/Hypoplasia of the thymus B lymphocytopenia Confusion Congenital agranulocytosis U-Shaped upper lip vermilion Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Urethral stenosis Central hypothyroidism Abnormality of the curvature of the vertebral column Clitoral hypoplasia Macular hypoplasia Giant platelets Crohn's disease Toe clinodactyly Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Megakaryocyte dysplasia Agranulocytosis Edema Lack of T cell function Renal insufficiency Histiocytosis Ataxia Encephalopathy Abnormality of the mitochondrion Enuresis Dysarthria Cardiomyopathy Dystonia Diabetes insipidus Splenomegaly Polyuria Abdominal pain Pollakisuria Polydipsia Nausea and vomiting Gliosis Abnormality of movement Choreoathetosis Anorexia Pancreatitis Wide nose Abnormality of metabolism/homeostasis Diabetes mellitus Irritability Autoimmunity Central diabetes insipidus Hypertonic dehydration Osteomyelitis Cerebral edema Dry skin Encephalitis Recurrent skin infections Conjunctivitis Recurrent bacterial infections Recurrent pneumonia Meningitis Ischemic stroke Bronchiectasis Ketoacidosis Organic aciduria Chronic diarrhea Eyelid coloboma Recurrent otitis media Abnormal myelination Hyperglycinuria Episodic ketoacidosis Cerebellar hemorrhage Tremor Hepatitis Cough Arthritis Pneumonia Germinoma Abnormality of the anterior pituitary Duodenal atresia Ectropion Chronic constipation Hernia Talipes equinovarus Ventriculomegaly Anteverted nares Short neck Hydrocephalus Atrial septal defect Abnormality of the dentition Congestive heart failure Behavioral abnormality Intellectual disability, mild Syndactyly Microphthalmia Cerebral atrophy Abnormality of cardiovascular system morphology Hypospadias Frontal bossing Pectus excavatum Clinodactyly Patent ductus arteriosus Abnormal heart morphology Inguinal hernia Clinodactyly of the 5th finger Agenesis of corpus callosum Prominent forehead Hypogonadism Hypothyroidism High forehead Retrognathia Pes planus Thin upper lip vermilion Ventricular septal defect Downslanted palpebral fissures Telecanthus Retrograde ejaculation Pain Hypertension Peripheral neuropathy Myalgia Abnormality of the nervous system Abnormal autonomic nervous system physiology Epiphora Blurred vision Amyloidosis Neonatal hypoglycemia Hypothermia Recurrent hypoglycemia Multiple myeloma Intermittent hypothermia Short stature Macrocephaly Spasticity Intrauterine growth retardation Wide nasal bridge Brachydactyly Depressed nasal bridge Flexion contracture Low-set ears Cryptorchidism Microcephaly Cataract Abnormal facial shape Sensorineural hearing impairment Strabismus Micrognathia Scoliosis Hydronephrosis Intellectual disability, moderate Retinal dysplasia Chorioretinal coloboma Leukodystrophy Aortic valve stenosis Spina bifida Horseshoe kidney Multicystic kidney dysplasia Holoprosencephaly Azoospermia Abnormal palate morphology Tachypnea Infantile muscular hypotonia Schizophrenia Pyloric stenosis Hand polydactyly Trigonocephaly Heart murmur Short thumb Transposition of the great arteries Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Natal tooth Hammertoe Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Short toe Amblyopia Low-set, posteriorly rotated ears Talipes Camptodactyly Postnatal growth retardation Craniosynostosis Coloboma Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Finger syndactyly Small for gestational age Neurological speech impairment Hip dislocation Dolichocephaly Toe syndactyly Narrow chest Facial asymmetry Smooth philtrum Pachygyria Intestinal malrotation Abnormal form of the vertebral bodies Coarctation of aorta Eczema Microdontia Otitis media Webbed neck Premature birth Anal atresia Postural instability Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Tachycardia Recurrent enteroviral infections


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