Leukemia, and Vesicoureteral reflux

Diseases related with Leukemia and Vesicoureteral reflux

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

Top matches:

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Other less relevant matches:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

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}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Top 5 symptoms//phenotypes associated to Leukemia and Vesicoureteral reflux

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Nystagmus Depressed nasal bridge Epicanthus Hypertelorism Neoplasm Hydronephrosis Patent ductus arteriosus Behavioral abnormality Strabismus Conductive hearing impairment Cryptorchidism Abnormality of the kidney Frontal bossing Downslanted palpebral fissures Atrial septal defect Intrauterine growth retardation Short stature Abnormality of cardiovascular system morphology Optic atrophy Thrombocytopenia Hypothyroidism Hydrocephalus Ventriculomegaly Myopia Generalized hypotonia Abnormal heart morphology Syndactyly Macrocephaly Edema Cleft palate Finger syndactyly Cognitive impairment Low-set ears Micrognathia Broad forehead Hydroureter Joint hypermobility Narrow palate Anemia Short thumb Growth hormone deficiency Polyhydramnios Malar flattening Horseshoe kidney Reduced number of teeth Lymphedema Nevus Respiratory tract infection Aggressive behavior Dilatation High palate Redundant skin Cutis laxa Cutaneous syndactyly Prominent forehead Sensorineural hearing impairment Cataract Ataxia Polymicrogyria Abnormal facial shape Blindness Narrow face Cerebral atrophy

Rare Symptoms - Less than 30% cases

Central diabetes insipidus Dysphagia Cavum septum pellucidum Retrognathia Dysarthria Hepatomegaly Ptosis Fine hair Absent thumb Cardiomyopathy Congestive heart failure Arteriovenous malformation Intellectual disability, severe Abnormal glucose tolerance Glaucoma Coronal craniosynostosis Sparse axillary hair Splenomegaly Arnold-Chiari type I malformation Sleep apnea Alopecia Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormal bleeding Large for gestational age Abnormality of the dentition Nail dystrophy Pachygyria Hypermetropia Abnormal vertebral morphology Sparse eyelashes Hypoplasia of dental enamel Diarrhea Spina bifida occulta Malabsorption Failure to thrive in infancy Renal agenesis Hypodontia High, narrow palate Genu valgum Dolichocephaly Delayed speech and language development Craniosynostosis Narrow mouth Pleural effusion Bulbous nose Agenesis of corpus callosum Coarse facial features Macrotia Motor delay Retinal detachment Progressive visual loss Oxycephaly Depressivity Short nose Nephroblastoma Umbilical hernia Pectus excavatum Abnormality of the nervous system High forehead Cortical dysplasia Polydactyly Renal dysplasia Osteopenia Hernia Absent septum pellucidum Microphthalmia Choanal atresia Acute lymphoblastic leukemia Proptosis Lymphoma Wide nasal bridge Low-set, posteriorly rotated ears Muscular hypotonia Failure to thrive Microtia Dry skin Astigmatism Lymphangioma Sparse hair Abnormal cardiac septum morphology Midface retrusion Joint laxity Hyperkeratosis Pyloric stenosis Arnold-Chiari malformation Neutropenia Hemangioma External ear malformation Slow-growing hair Delayed skeletal maturation Aplasia/Hypoplasia of the thumb Constipation Overgrowth Ascites Thick vermilion border Optic nerve hypoplasia Oral cleft Smooth philtrum Toe syndactyly Hallux valgus Oligodactyly Hypoplasia of the radius Abnormality of the ureter Choanal stenosis Abnormality of the metacarpal bones Osteosarcoma Lambdoidal craniosynostosis Absent radius Short humerus Fibular hypoplasia Aplasia/Hypoplasia of the patella Aplasia/Hypoplasia of the radius Large fontanelles Bowing of the long bones Limited elbow movement Anteriorly placed anus Chromosome breakage Tracheoesophageal fistula Bilateral conductive hearing impairment Hypoplasia of the ulna Thyroid lymphangiectasia Carpal synostosis Rib fusion Shallow orbits Sagittal craniosynostosis Hand oligodactyly Trigonocephaly Narrow nasal bridge Anterior plagiocephaly Rectovaginal fistula Patellar hypoplasia Abnormal localization of kidney Poikiloderma Absence of Stensen duct Pancytopenia Ectrodactyly Renal hypoplasia/aplasia Coarse hair Proximal placement of thumb Hypoplastic toenails Keratitis Hypoplastic nipples Blepharitis Hypogonadotrophic hypogonadism Xerostomia Split foot Depressed nasal tip Blue irides Taurodontia Fair hair Abnormality of dental enamel Sparse and thin eyebrow Generalized hypopigmentation Carious teeth Flexion contracture Hypospadias Micropenis Photophobia Cleft lip Blepharophimosis Cleft upper lip Hypohidrosis Thick eyebrow Hypoplasia of the maxilla Ectodermal dysplasia Microdontia Sparse scalp hair Split hand Recurrent urinary tract infections Corneal erosion Dysuria Hypotelorism Abnormality of the skeletal system Abnormality of the inner ear Mesoaxial polydactyly Transverse vaginal septum Periorbital hyperpigmentation Pericardial lymphangiectasia Generalized microdontia Brachycephaly Megacystis Skin rash Prominent nasal bridge Facial asymmetry Anal atresia Bifid uvula Prominent nose Underdeveloped nasal alae Aplasia/Hypoplasia of the breasts Urethral atresia Sparse pubic hair Inflammatory abnormality of the eye Hypoplasia of the thymus Anterior hypopituitarism Lacrimation abnormality Entropion Aplasia/Hypoplasia of the nipples Bladder diverticulum Selective tooth agenesis Dacryocystitis Urethral stenosis Thin nail Duplicated collecting system Abnormality of the nasopharynx Nail pits Abnormality of the middle ear Ureterocele Ulnar bowing Bilateral single transverse palmar creases Brachyturricephaly Respiratory arrest Hepatosplenomegaly Hyperactivity Recurrent respiratory infections Intellectual disability, mild Respiratory distress Respiratory insufficiency Talipes equinovarus Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Sideroblastic anemia Pollakisuria Histiocytosis Rectal prolapse Polyphagia Type I diabetes mellitus Leukoencephalopathy Anosmia Abnormality of the urinary system Diabetes insipidus Blurred vision Atrophy/Degeneration affecting the brainstem Testicular atrophy Severe sensorineural hearing impairment Dyschromatopsia Megaloblastic anemia Central apnea Neurogenic bladder Stroke-like episode Intellectual disability, moderate Periorbital edema Psychosis Oligodontia Increased number of teeth Cutaneous finger syndactyly Pericardial effusion Ectopic kidney Abnormality of dental morphology Hypoalbuminemia Abnormal intestine morphology Polysplenia Hypocalcemia Delayed eruption of teeth Decreased antibody level in blood Gingival overgrowth Hydrops fetalis Lymphopenia Palpebral edema Edema of the lower limbs Camptodactyly Flat face Camptodactyly of finger Short philtrum Narrow chest Abnormality of the foot Lymphadenopathy Protein-losing enteropathy Generalized edema Hypoplastic iliac wing Hypoproteinemia Short palm Hirsutism Small hand Nonimmune hydrops fetalis Short foot Hypergonadotropic hypogonadism Pigmentary retinopathy Metopic synostosis Recurrent lower respiratory tract infections Recurrent otitis media Joint contracture of the hand Atresia of the external auditory canal Triphalangeal thumb Macrocytic anemia Sprengel anomaly Esophagitis Mild postnatal growth retardation Increased mean corpuscular volume Secundum atrial septal defect Reticulocytopenia Fetal distress Vitamin D deficiency Small hypothenar eminence Tetralogy of Fallot Osteoporosis Microcephaly Perineal fistula Abnormality of the carpal bones Urogenital fistula Flat forehead Bilateral radial aplasia Aplasia of metacarpal bones Bicoronal synostosis Limited shoulder movement Recurrent infections Persistent cloaca Carpal bone aplasia Midface capillary hemangioma Anomalous splenoportal venous system Aphalangy of the hands Unilateral radial aplasia Uterine neoplasm Pallor Chylothorax Rigidity Hypogonadism Diabetes mellitus Respiratory failure Pulmonary lymphangiectasia Erysipelas Weight loss Anxiety Dementia Apnea Neurodegeneration Intestinal lymphangiectasia Abnormal oral mucosa morphology Dehydration Primary hypothyroidism Myoclonus Fatigue Triangular face Abnormal renal morphology Renal hypoplasia Bone marrow hypocellularity Patent foramen ovale Duodenal atresia Oral aversion Fused cervical vertebrae Colpocephaly Severe hydrops fetalis Small pituitary gland Benign neoplasm of the central nervous system Chromosomal breakage induced by crosslinking agents Peripheral neuropathy Conical incisor Tremor Short 1st metacarpal Absent eyebrow Multiple plantar creases Hyperreflexia Accelerated skeletal maturation Pointed chin Tall stature Heterotopia Clumsiness Small nail Apraxia Sloping forehead Otitis media Carcinoma Neonatal hypotonia Jaundice Pes planus Mandibular prognathia Blue nevus Precocious puberty Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Abnormal dermatoglyphics Large hands Dilation of lateral ventricles Small cell lung carcinoma Cerebral cortical atrophy Hyperhidrosis Posteriorly rotated ears Clinodactyly of the 5th finger Inguinal hernia Encephalopathy Long philtrum Kyphosis Hypertonia Vomiting Short neck Anteverted nares Feeding difficulties Abnormality of the cerebral ventricles Gray matter heterotopias Agenesis of permanent teeth Long foot Partial agenesis of the corpus callosum Prolonged neonatal jaundice Neuroblastoma Poor coordination High anterior hairline Enlarged cisterna magna Advanced eruption of teeth Sacrococcygeal teratoma Periventricular leukomalacia Overbite Hamartomatous polyposis Teratoma Hyperplasia of the maxilla Expressive language delay Arterial stenosis Atrial flutter Gastroesophageal reflux Ectopia lentis Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Aplasia cutis congenita Occipital encephalocele Chorioretinal atrophy Dextrocardia Corneal dystrophy Abnormal vitreous humor morphology Macular degeneration Horizontal nystagmus Abnormality of the hair Encephalocele Thin skin High myopia Retinal degeneration Joint hyperflexibility Congenital cataract Nyctalopia Mental deterioration Visual loss Cerebellar atrophy Visual impairment Phthisis bulbi Cerebellar malformation Abnormality of the upper limb Reduced bone mineral density Hemihypertrophy Abnormality of the lower limb Large earlobe Varicose veins Meningioma Megalencephaly Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Nevus flammeus Syringomyelia Telangiectasia of the skin Abnormality of digit Cutis marmorata Ischemic stroke Exudative retinal detachment Postnatal growth retardation Peripapillary atrophy Occipital meningocele Bifid ureter Cephalocele Arrhythmia Deeply set eye Stroke Shock Postaxial polydactyly Abnormality of the skin Postaxial hand polydactyly Telangiectasia Multicystic kidney dysplasia Purpura Autism EEG abnormality Eyelid fasciculation Absent eyelashes Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Enlarged kidney Gastrointestinal dysmotility Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Deep palmar crease Abnormal mitral valve morphology Neurodevelopmental delay Optic nerve dysplasia Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Patchy alopecia Thickened helices Cavernous hemangioma Subvalvular aortic stenosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Multiple lentigines Abnormal tricuspid valve morphology Sparse or absent eyelashes Increased nuchal translucency Endocarditis Frontal balding Anterior creases of earlobe Abnormality of the optic disc Neurofibromas Aplasia/Hypoplasia of the eyebrow Hypertrophic cardiomyopathy Falls Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Webbed neck Dental malocclusion Premature birth Intestinal malrotation Full cheeks Abdominal distention Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Retinal dystrophy Bruising susceptibility Long face Low posterior hairline Pectus carinatum Telecanthus Abnormality of the eye Feeding difficulties in infancy Irritability Erythema Scarring Neurological speech impairment Abnormality of skin pigmentation Pruritus Abnormality of the cerebral white matter Hypotrichosis Pulmonic stenosis Ichthyosis Peripheral axonal neuropathy Coarctation of aorta Myocardial infarction Malnutrition Relative macrocephaly Open bite Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Scaling skin Sparse eyebrow Bilateral ptosis Brittle hair Deep philtrum Hyperextensible skin Poor suck Abnormality of vision Hemiparesis Cerebral visual impairment Inflammatory abnormality of the skin Open mouth Decreased body weight Thickened skin Cafe-au-lait spot Hyperpigmentation of the skin Aspiration Palmoplantar hyperkeratosis Abnormality of the nail Oculomotor apraxia Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Delayed gross motor development Pleural lymphangiectasia


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