Myopia, and Acute myeloid leukemia

Diseases related with Myopia and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Myopia and Acute myeloid leukemia that can help you solving undiagnosed cases.


Top matches:

High match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


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

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Other less relevant matches:

Low 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

Low match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Low match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Low match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY 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

Top 5 symptoms//phenotypes associated to Myopia and Acute myeloid leukemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Acute myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Acute lymphoblastic leukemia

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Lymphoma

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Cryptorchidism Nystagmus Muscular hypotonia Hydrocephalus Seizures Atrial septal defect Scoliosis Neoplasm High palate Motor delay Brachydactyly Postnatal growth retardation Growth delay Abnormal facial shape Failure to thrive Micrognathia Abnormality of cardiovascular system morphology Thrombocytopenia Patent ductus arteriosus Abnormal heart morphology Clinodactyly of the 5th finger Microcephaly Edema Depressed nasal bridge Cafe-au-lait spot Anemia Sensorineural hearing impairment Hydronephrosis Webbed neck Wide nasal bridge Joint hyperflexibility Midface retrusion Sloping forehead Broad forehead Hypertrophic cardiomyopathy Ventriculomegaly Microphthalmia Short neck Pulmonic stenosis High forehead Upslanted palpebral fissure Bilateral ptosis Thick vermilion border Ataxia Recurrent infections Downslanted palpebral fissures Low-set ears Hypothyroidism Pectus excavatum

Rare Symptoms - Less than 30% cases


Sparse hair Abnormality of the urinary system Headache Short palpebral fissure Abnormality of the genital system Aganglionic megacolon Renal hypoplasia/aplasia Broad thumb Abnormality of the lymphatic system Tracheoesophageal fistula Neutropenia Myeloproliferative disorder Hydroureter Abnormality of blood and blood-forming tissues Thickened nuchal skin fold Abnormal eyelid morphology B-cell lymphoma Abnormality of the testis Acute monocytic leukemia Abnormal aortic valve morphology Tetralogy of Fallot Anal atresia Bruising susceptibility Hypospadias Visual impairment Hepatomegaly Intrauterine growth retardation Lymphedema Abnormality of the skeletal system Abnormality of the kidney Amblyopia Carcinoma Narrow mouth Abnormality of skin pigmentation Severe short stature Hypogonadism Weight loss Proptosis Umbilical hernia Abnormality of the eye Dilatation Toe syndactyly Duodenal stenosis Atrioventricular canal defect Telecanthus Thick lower lip vermilion Coarse facial features Unilateral ptosis Protruding tongue Feeding difficulties Delayed speech and language development Anteverted nares Cognitive impairment Short nose Long philtrum Brachycephaly Conductive hearing impairment Abnormality of the dentition Pointed chin Feeding difficulties in infancy Low anterior hairline Aortic valve stenosis Wide mouth Microtia Muscle weakness Low posterior hairline Wide nose Prominent fingertip pads Delayed skeletal maturation Polymicrogyria Glaucoma Congenital cataract Intellectual disability, mild Growth hormone deficiency Underdeveloped supraorbital ridges Abnormality of the sternum Multiple lentigines Blindness Frontal bossing Visual loss Retrognathia Macrocephaly Sandal gap Retinal detachment High myopia Pachygyria Abnormality of the hair Narrow face Dry skin Protruding ear Low-set, posteriorly rotated ears Joint hypermobility Abnormality of vision Pleural effusion Chylothorax Breast carcinoma Abnormality of the uterus Cranial nerve paralysis Arteriovenous malformation Hypopigmented skin patches Cystic hygroma Cellulitis Cutis marmorata Macroglossia Melanocytic nevus Chronic diarrhea Telangiectasia Subcutaneous nodule Multiple cafe-au-lait spots Curly hair Spina bifida occulta Aplasia/Hypoplasia of the corpus callosum Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Erysipelas Abnormal dermatoglyphics Abnormality of the fingernails Wide anterior fontanel Abnormal nipple morphology Hypoplastic toenails Sparse scalp hair Cutaneous photosensitivity Abnormal anterior segment morphology Fine hair Abnormal lymphatic vessel morphology Abnormal atrial septum morphology Aplasia of lymphatic vessels Sacral dimple Aplasia/Hypoplasia of the thumb Neurofibrosarcoma Abnormality of the optic nerve Obesity Malar flattening Gait disturbance Hypertension Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Retinal dysplasia Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Reduced factor XI activity Abnormal nasolacrimal system morphology Reduced factor XII activity Hyperkeratosis pilaris Hypoparathyroidism Anal stenosis Superior pectus carinatum Submucous cleft hard palate Prominent nasolabial fold Leukonychia Asthma Amegakaryocytic thrombocytopenia Delayed cranial suture closure Metatarsus adductus Eczema Craniosynostosis Delayed eruption of teeth Spontaneous abortion Chorioretinal coloboma Overfolded helix Spasticity Ectropion Trigonocephaly Chorioretinal dysplasia Redundant skin Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Optic atrophy Hypertonia Long eyebrows Rigidity Hoarse voice Retinopathy Retinal dystrophy Full cheeks Postnatal microcephaly Thickened skin Specific learning disability Heterotopia Hypertrichosis Bifid uvula Juvenile myelomonocytic leukemia Asymmetry of the thorax Short foot Small thenar eminence Small hand Malabsorption Attention deficit hyperactivity disorder Blepharophimosis Polydactyly Prominent digit pad Abnormality of the vestibular nerve Cardiomyopathy Respiratory insufficiency Small posterior fossa Duplication of phalanx of hallux Facial edema Broad neck U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Depressed nasal tip Inverted nipples Esophageal atresia Hyperkeratosis Panniculitis Long palpebral fissure Relative macrocephaly Dementia Hypotrichosis Joint laxity High anterior hairline Dental malocclusion Abnormal bleeding Triangular face High, narrow palate Delayed puberty Abnormality of the mouth Neurological speech impairment Pectus carinatum Acute leukemia Highly arched eyebrow Hepatosplenomegaly Premature skin wrinkling Abnormality of the helix Pulmonary artery stenosis Kyphoscoliosis Gastroesophageal reflux Abnormality of refraction Elevated circulating follicle stimulating hormone level Polyhydramnios Constipation Redundant neck skin Arrhythmia Abnormality of the spleen Aplasia/Hypoplasia of the abdominal wall musculature Clinodactyly Talipes equinovarus Otitis media Wide intermamillary distance Dysphagia Abnormal eyelash morphology Scaling skin Muscle stiffness Anophthalmia Skin ulcer Scapular winging Hypogonadotrophic hypogonadism Abnormality of retinal pigmentation Arnold-Chiari malformation Coarse hair Radioulnar synostosis Decreased body weight Mitral regurgitation Failure to thrive in infancy Aortic root aneurysm Gangrene Abnormality of the thorax Cubitus valgus Abnormal toenail morphology Myopathic facies Abnormality of coagulation Prolonged bleeding time Coarctation of aorta Abnormality of digit Male infertility Mitral valve prolapse Thoracic scoliosis Ventricular septal defect Dysarthria Developmental regression Narrow palate Impaired pain sensation Intestinal lymphangiectasia Abnormality of immune system physiology Prematurely aged appearance Transposition of the great arteries Abnormal pulmonary valve morphology Broad palm Reduced factor VIII activity Pulmonary lymphangiectasia Decreased fertility Alzheimer disease Cholelithiasis Bilateral single transverse palmar creases Abnormality of the mandible Open mouth Abnormal platelet function Depressed nasal ridge Type II diabetes mellitus Microdontia Postural instability Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Flat face Venous thrombosis Congenital hypothyroidism Neurofibrillary tangles Acute megakaryocytic leukemia Elevated circulating luteinizing hormone level Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Abnormal mitral valve morphology Atlantoaxial instability Thickened helices Shield chest Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Abnormality of the pulmonary artery Prolonged QRS complex Enlarged thorax Short middle phalanx of the 5th finger Complete atrioventricular canal defect Abnormal hair quantity Pulmonary edema Hypoxemia Synovitis Senile plaques Hypoplastic iliac wing Double outlet right ventricle Thrombocytosis Polycythemia Status epilepticus Encephalocele Everted lower lip vermilion Progressive macrocephaly Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Lobular carcinoma in situ Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Multiple trichilemmomata Cleft palate Fibroma Abnormality of the foot Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Recurrent urinary tract infections Choanal atresia Pancytopenia Oligohydramnios Renal agenesis Hypopigmentation of the skin Vertigo Astigmatism Facial asymmetry Dolichocephaly Hyperreflexia Hip dislocation Finger syndactyly Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Irritability Pes planus Diabetes mellitus Renal insufficiency Congestive heart failure Respiratory distress Fatigue Fever Generalized hyperkeratosis Hamartomatous polyposis Bone marrow hypocellularity Abnormal cerebellum morphology Palmoplantar hyperkeratosis Goiter Melanoma Increased intracranial pressure Hemangioma Drooling Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Intention tremor Overgrowth Decreased antibody level in blood Hypoplasia of the maxilla Dysdiadochokinesis Palmoplantar keratoderma Nausea and vomiting Papule Intellectual disability, moderate Proximal muscle weakness Autism Immunodeficiency Kyphosis Diarrhea Myopathy Tremor Skeletal muscle atrophy Pain Incoordination Intracranial hemorrhage Papilloma Prolactin excess Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Furrowed tongue Hydrocele testis Meningioma Megalencephaly Skin tags Papilledema Hand polydactyly Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Multiple lipomas Abnormality of the thyroid gland Macule Hypergonadotropic hypogonadism Horseshoe kidney Iris coloboma Ectopia lentis 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 Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Pyloric stenosis Lens luxation Corneal dystrophy Macular degeneration Horizontal nystagmus Thin skin Progressive visual loss Vesicoureteral reflux Bulbous nose Retinal degeneration Nyctalopia Mental deterioration Alopecia Cerebral atrophy Cerebellar atrophy Macular hypoplasia Band keratopathy Abnormality of lateral ventricle Hyperactivity Oral cleft Cleft upper lip Smooth philtrum Arthrogryposis multiplex congenita Coloboma Joint stiffness Abnormality of the pinna Camptodactyly Cleft lip Thin upper lip vermilion Mandibular prognathia Micropenis Cerebral cortical atrophy Posteriorly rotated ears Lymphangioma Agenesis of corpus callosum Abnormality of metabolism/homeostasis Dystonia Intellectual disability, severe Flexion contracture Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Abnormal ventricular septum morphology Heat intolerance Type I diabetes mellitus Irregular hyperpigmentation Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Aplastic anemia Abnormality of the upper limb Abnormality of the ulna Chromosome breakage Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Abnormal aortic morphology Absent radius Myeloid leukemia Absent thumb Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb Myelodysplasia Hyperinsulinemia Reduced bone mineral density Azoospermia Leukopenia Reticulocytopenia Abnormality of nervous system morphology Absent eyebrow Prolonged G2 phase of cell cycle Hyperextensible skin Optic nerve hypoplasia Narrow forehead Hyperhidrosis Cerebellar hypoplasia Hypoplasia of the corpus callosum Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormal carotid artery morphology Primary hypothyroidism Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Melanonychia



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