Leukemia, and Visual loss

Diseases related with Leukemia and Visual loss

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

Top matches:

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Other less relevant matches:

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

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

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

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

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 Leukemia and Visual loss

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Intellectual disability Cataract Nystagmus Lymphoma Epicanthus Glaucoma Abnormal facial shape Lymphedema Short stature Cellulitis Atrial septal defect Hydrocephalus Optic atrophy Weight loss Headache Myopia Ptosis Ataxia Retinal dystrophy Microcephaly Edema Dry skin Generalized hypotonia Long philtrum Hypertonia Anteverted nares Muscular hypotonia Thick vermilion border Venous thrombosis Retinal detachment Visual impairment Cardiomyopathy Abnormal heart morphology Congestive heart failure Neurofibromas Anorexia Abnormality of skin pigmentation Strabismus Full cheeks Gangrene Abnormal eyelash morphology Pleural effusion Scaling skin Depressed nasal bridge Thickened skin Specific learning disability Underdeveloped supraorbital ridges Proptosis Myelodysplasia Pallor Splenomegaly Hepatomegaly Respiratory insufficiency Thrombocytopenia Abnormality of the optic nerve Sensorineural hearing impairment Erysipelas

Rare Symptoms - Less than 30% cases

Retinal degeneration Cafe-au-lait spot Bulbous nose Vesicoureteral reflux Progressive visual loss Soft tissue sarcoma Leiomyosarcoma Bilateral ptosis Deep philtrum Optic nerve hypoplasia Hypertelorism Overgrowth Bilateral sensorineural hearing impairment Astrocytoma Abnormality of the cardiovascular system Multiple cafe-au-lait spots Sleep disturbance Sarcoma Astigmatism Recurrent infections Chorioretinal atrophy Hypermetropia Delayed speech and language development Aggressive behavior Malar flattening Coarctation of aorta Peripheral neuropathy Alopecia Hypoglycemia Dysarthria Macrocephaly Scoliosis Behavioral abnormality Fatigue Abnormality of cardiovascular system morphology Depressivity Cerebellar atrophy Fever Autism Osteopenia Hypertrophic cardiomyopathy Peripheral axonal neuropathy Ventriculomegaly Pruritus Gastrointestinal hemorrhage Polyneuropathy Malabsorption Stroke Pulmonic stenosis Genu valgum Diarrhea Cerebral atrophy Paresthesia Vomiting Attention deficit hyperactivity disorder Pain Hyperactivity Muscle stiffness Cryptorchidism Abnormality of the hair Chronic otitis media Skin ulcer Microphthalmia Severe short stature Abnormality of retinal pigmentation Upslanted palpebral fissure Amblyopia Rigidity Ventricular septal defect Subcutaneous nodule Status epilepticus Abnormality of the eye Sloping forehead Migraine Webbed neck Prominent forehead Pancytopenia Intellectual disability, mild Intellectual disability, severe Wide nose Pointed chin Abnormality of vision Retinopathy Retinal dysplasia Vitreoretinopathy Scarring Neurological speech impairment Abnormal cardiac septum morphology Spasticity Melanonychia Chorioretinal dysplasia Panniculitis Abnormal nasolacrimal system morphology Chylothorax Leukonychia Gastroesophageal reflux Downslanted palpebral fissures Wide nasal bridge Abnormal toenail morphology Macrotia Hypercoagulability Vertigo Lymphadenopathy Micrognathia Anomalous pulmonary venous return Anophthalmia Bruising susceptibility Acute myeloid leukemia Protruding ear Hyperhidrosis High forehead Dolichocephaly Pectus carinatum Sparse hair Respiratory tract infection Irritability Feeding difficulties in infancy Abnormality of the kidney Low-set, posteriorly rotated ears Telecanthus Nail dystrophy Cerebral cortical atrophy Hydronephrosis EEG abnormality Umbilical hernia Coarse facial features Erythema Polyhydramnios Hyperkeratosis Aciduria High palate Posteriorly rotated ears Subcutaneous neurofibromas Polycystic ovaries Cone/cone-rod dystrophy Neuroma Aminoaciduria Hoarse voice Cardiac arrest Situs inversus totalis Hypotrichosis Neurofibrosarcoma Optic nerve glioma Amenorrhea Abnormality of the skin Secondary amenorrhea Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Brow ptosis Arrhythmia Diabetes mellitus Lethargy Hyperglycemia Macrocytic anemia Constipation Dysphagia Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Encephalopathy Pectus excavatum Hernia Vestibular Schwannoma Short nose Kyphosis Abnormality of the dentition Short neck Frontal bossing Megaloblastic anemia Feeding difficulties Neutropenia Low-set ears Failure to thrive Growth delay Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Abnormality of the cerebral white matter Large for gestational age Ichthyosis Abnormal hair pattern Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Dystrophic fingernails Thick upper lip vermilion Abnormality of the pulmonary artery Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Alopecia of scalp Atopic dermatitis Poor appetite Anal stenosis Hyperextensibility of the finger joints Excessive wrinkled skin Generalized hyperpigmentation Functional abnormality of the gastrointestinal tract Multiple plantar creases Eyelid fasciculation 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 Laryngeal cleft Abnormality of hair texture Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Submucous cleft hard palate Curly hair Long face Low posterior hairline Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Cardiomegaly Cutis laxa Narrow forehead Growth hormone deficiency Dental malocclusion Premature birth Intestinal malrotation Nevus Abnormal bleeding Abdominal distention Palmoplantar keratoderma High, narrow palate Hepatic steatosis Falls Joint hypermobility Oculomotor apraxia Abnormal palate morphology Biparietal narrowing Cubitus valgus Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Axillary freckling Absent eyebrow Obsessive-compulsive behavior Heart murmur Melanocytic nevus Aplasia/Hypoplasia of the corpus callosum Ectropion Sparse eyebrow Failure to thrive in infancy Brittle hair Redundant skin Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Embryonal rhabdomyosarcoma Chorioretinal lacunae Renovascular hypertension Cranial nerve paralysis Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Edema of the lower limbs Raynaud phenomenon Pulmonary infiltrates Gingival bleeding Elevated erythrocyte sedimentation rate Cutis marmorata Urticaria Purpura Normocytic anemia Vasculitis Epistaxis Memory impairment Autoimmunity Renal insufficiency Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Periorbital edema Abnormality of neutrophils Ewing sarcoma Congenital cataract Corneal dystrophy Macular degeneration Horizontal nystagmus Narrow face Pachygyria Encephalocele Thin skin High myopia Polymicrogyria Joint hyperflexibility Nyctalopia Retinal hemorrhage Mental deterioration Retrognathia Patent ductus arteriosus Midface retrusion Motor delay Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Pineal cyst Hyphema Ectopia lentis Leukopenia Abnormal neutrophil count Macronodular cirrhosis Granulocytopenia Myeloproliferative disorder Verrucae Acute leukemia Myeloid leukemia Prolonged bleeding time Leukocytosis Intracranial hemorrhage Bone marrow hypocellularity Cleft palate Hypotelorism Tapered finger Hematuria Hemolytic anemia Cirrhosis Nausea and vomiting Respiratory failure Recurrent respiratory infections Immunodeficiency Syndactyly Abnormal eyelid morphology Carcinoma Neoplasm of the eye Ocular pain Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Anisocoria Vitreous hemorrhage Skin rash Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Increased intracranial pressure Postural instability Pyloric stenosis Dextrocardia Renal artery stenosis Precocious puberty Overweight Severe vision loss Renal cell carcinoma Osteomalacia Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Back pain Meningioma Incoordination Breast carcinoma Reduced bone mineral density Atherosclerosis Spina bifida Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Mitral valve prolapse Increased reactive oxygen species production Neoplasm of the endocrine system Recurrent fractures Schwannoma Single ventricle Pseudoarthrosis Epigastric pain Dural ectasia Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Glioma Myocardial fibrosis Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Brain neoplasm Tetralogy of Fallot Facial asymmetry Cortical dysplasia Band keratopathy Hypoplasia of the corpus callosum Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Lens luxation Mandibular prognathia Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Large forehead Calvarial skull defect Meningocele Acute lymphoblastic leukemia Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Reduced visual acuity Thin upper lip vermilion Paralysis Prominent nasal tip Autistic behavior Kyphoscoliosis Osteoporosis Dilatation Abnormality of the skeletal system Hypertension Cognitive impairment Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Congenital microcephaly Neonatal hypotonia Retinal fold Cortical gyral simplification Agitation Flat occiput Patent foramen ovale Thick lower lip vermilion Pigmentary retinopathy Broad nasal tip Microcornea Corneal opacity Oral aversion


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