Leukemia, and Esotropia

Diseases related with Leukemia and Esotropia

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

Top matches:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

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

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Other less relevant matches:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Top 5 symptoms//phenotypes associated to Leukemia and Esotropia

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Generalized hypotonia Motor delay Microcephaly Muscular hypotonia Intellectual disability Abnormal facial shape Thrombocytopenia Pulmonic stenosis Cafe-au-lait spot Anemia Intrauterine growth retardation Ascites Lymphoma Bicuspid aortic valve Aortic valve stenosis Scoliosis Webbed neck Low-set ears Ventricular septal defect Bruising susceptibility Atrial septal defect Cryptorchidism Abnormality of cardiovascular system morphology Myopia High palate Osteopenia Hypertension Hypoplasia of the corpus callosum Delayed speech and language development Seizures Epicanthus Microphthalmia Pectus excavatum

Rare Symptoms - Less than 30% cases

Short foot Delayed puberty Kyphosis Myopathy Splenomegaly Long philtrum Short palm Highly arched eyebrow Small hand Abnormal bleeding Triangular face Chylothorax High forehead Posteriorly rotated ears Central hypotonia Small for gestational age Growth hormone deficiency Wide intermamillary distance Prominent forehead Hip dysplasia Short nose Edema Obesity Anteverted nares Feeding difficulties Macrocephaly Ptosis Abnormality of the cardiovascular system Narrow mouth Downslanted palpebral fissures Osteoporosis Hypertelorism Frontal bossing Thin upper lip vermilion Depressed nasal bridge Recurrent respiratory infections Postnatal growth retardation Upslanted palpebral fissure Hepatosplenomegaly Pterygium Pancytopenia Hypermetropia Clinodactyly Decreased body weight Dolichocephaly Cyanosis Pulmonary arterial hypertension Narrow forehead Cataract Cerebellar hypoplasia Epistaxis Abnormal heart morphology Patent ductus arteriosus Dilatation Syndactyly Hypertonia Ventriculomegaly Talipes equinovarus Nystagmus Decreased muscle mass Abnormality of the thorax Chromosomal breakage induced by crosslinking agents Chromosome breakage Juvenile myelomonocytic leukemia Truncal obesity B-cell lymphoma Abnormality of the spleen Horseshoe kidney Bone marrow hypocellularity Short thumb Corneal opacity Hydrocephalus EEG abnormality Radial deviation of finger Polyhydramnios Gastrointestinal hemorrhage Type II diabetes mellitus Congestive heart failure Meningitis Leukopenia Sparse hair Diabetes mellitus Esodeviation Abnormality of skin pigmentation Short distal phalanx of finger Polymicrogyria Cirrhosis Deep philtrum Poor suck Cholelithiasis Failure to thrive in infancy Portal hypertension Micrognathia Delayed skeletal maturation Severe intrauterine growth retardation Mitral valve prolapse Craniosynostosis Severe failure to thrive Small face Hypertrophic cardiomyopathy Increased serum insulin-like growth factor 1 Abnormality of the rib cage Perimembranous ventricular septal defect Burkitt lymphoma Prominent scalp veins Broad finger Maternal diabetes Rieger anomaly Hypoplastic facial bones Everted lower lip vermilion Multiple cafe-au-lait spots Clitoral hypoplasia Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Anteverted ears Acromicria Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Abnormality of lipid metabolism Poor gross motor coordination Wide nasal bridge Reduced subcutaneous adipose tissue Epidermal acanthosis Delayed cranial suture closure High pitched voice Agitation Lipodystrophy Patent foramen ovale Acanthosis nigricans Sandal gap Accelerated skeletal maturation Finger clinodactyly Sparse scalp hair Blue sclerae Broad nasal tip Malar flattening Delayed eruption of teeth Scaphocephaly Inability to walk Thin vermilion border Smooth philtrum Synophrys Muscular hypotonia of the trunk Anxiety Deeply set eye Retrognathia Severe short stature Cystic hygroma Progressive neurologic deterioration Sagittal craniosynostosis Abnormality of bone marrow cell morphology Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Spontaneous hematomas Horizontal supranuclear gaze palsy Fractures of the long bones Hypersplenism Periorbital edema Generalized osteosclerosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Cardiac valve calcification Hyperhidrosis Bipolar affective disorder Neutropenia Prolonged G2 phase of cell cycle Deficient excision of UV-induced pyrimidine dimers in DNA Complete duplication of thumb phalanx Duplicated collecting system Reticulocytopenia Absent radius Absent thumb Ectopic kidney Hypergonadotropic hypogonadism Renal agenesis Hearing impairment Telecanthus Abnormal ventricular septum morphology Abnormality of lateral ventricle Multiple lentigines Abnormal aortic valve morphology Heat intolerance Acute lymphoblastic leukemia Abnormality of the sternum Absent eyebrow Hyperextensible skin Optic nerve hypoplasia Congenital cataract Increased serum ferritin Hepatocellular carcinoma Myeloproliferative disorder Abdominal pain Generalized myoclonic seizures Abdominal distention Hematuria Lymphadenopathy Abnormality of eye movement Neurological speech impairment Abnormality of the eye Proteinuria Arthritis Dyspnea Myoclonus Syncope Dementia Arrhythmia Depressivity Diarrhea Fatigue Hepatomegaly Spasticity Ataxia Dysplastic pulmonary valve Atrial septal dilatation Hypoplastic nasal bridge Parkinsonism Apraxia Gingival bleeding Menorrhagia Protuberant abdomen Aseptic necrosis Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Leukocytosis Hypoventilation Clubbing Increased susceptibility to fractures Reduced bone mineral density Oculomotor apraxia Osteolysis Spastic paraparesis Increased bone mineral density Bone pain Hepatic fibrosis Anorexia Osteoarthritis Iris hypopigmentation Neonatal hypotonia Hypopigmentation of hair Venous malformation Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Absent fingernail Gait disturbance Absent hand Aplastic/hypoplastic toenail Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Optic atrophy Short neck Abnormality of the lower limb Astigmatism Lymphedema Hyperpigmentation of the skin Mitral regurgitation Fine hair Low posterior hairline Thick vermilion border Falls Joint hypermobility Abnormality of the foot Respiratory distress Broad forehead Pectus carinatum Feeding difficulties in infancy Low-set, posteriorly rotated ears Joint laxity Macrotia Gastroesophageal reflux Inguinal hernia Cardiomyopathy Hypoplastic fingernail Arteriovenous malformation Bilateral single transverse palmar creases T-cell acute lymphoblastic leukemias Finger syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Abnormality of the kidney Alopecia Abnormality of the skeletal system Brachydactyly Cleft palate Medulloblastoma Talipes Peters anomaly Acute leukemia Lipoma Anteriorly placed anus Acute myeloid leukemia Myelodysplasia Breast carcinoma Renal hypoplasia Anal atresia Toe syndactyly Cleft upper lip Calvarial skull defect Cutis marmorata Double outlet right ventricle Pulmonary artery stenosis Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Supernumerary nipple Abnormality of the metacarpal bones Premature birth Telangiectasia Pachygyria Encephalocele Split hand Hemiparesis Small nail Coarctation of aorta Tetralogy of Fallot Nail dysplasia Hydrops fetalis Vasculitis Pulmonary embolism Specific learning disability Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Psychosis Decreased fetal movement Oligohydramnios Amenorrhea Febrile seizures Increased body weight Full cheeks Sepsis Hypopigmentation of the skin Sleep disturbance Tapered finger Downturned corners of mouth Arachnodactyly Infertility Genu valgum Bradycardia Hypogonadotrophic hypogonadism Pruritus Glucose intolerance Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Spontaneous abortion Large hands Emotional lability Hyperinsulinemia Precocious puberty Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Carious teeth Stroke Torticollis Hypochromic microcytic anemia Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Short attention span Reduced prothrombin activity Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Proximal placement of thumb Overfolded helix Cubitus valgus Pleural effusion Bilateral ptosis Reduced factor XII activity Reduced factor X activity Attention deficit hyperactivity disorder Respiratory failure Respiratory tract infection Abnormality of the pinna Apnea Abnormality of the nervous system Hypoglycemia Photophobia Autism Weight loss Micropenis Hyperactivity Abnormality of the subarachnoid space Hypogonadism Hyporeflexia Intellectual disability, mild Behavioral abnormality Abnormality of the dentition Vomiting Intellectual disability, severe Fever Pain Anemic pallor


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