Anemia, and Astigmatism

Diseases related with Anemia and Astigmatism

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. 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. 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 blood group system (see {111300}). 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, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


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

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Other less relevant matches:

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


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

Low match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Anemia and Astigmatism

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Neoplasm Seizures Growth delay Abnormal facial shape Neutropenia Scoliosis Hearing impairment Bone marrow hypocellularity Hypothyroidism Feeding difficulties Abnormality of cardiovascular system morphology Atrial septal defect Intrauterine growth retardation Fever Cognitive impairment Short neck Low-set ears Hypertension Hypertelorism Strabismus Delayed speech and language development Generalized hypotonia

Rare Symptoms - Less than 30% cases


Neurodevelopmental delay Renal insufficiency Low posterior hairline Motor delay Hyperpigmentation of the skin Depressed nasal bridge High palate Posteriorly rotated ears Edema Ataxia Cryptorchidism Flexion contracture Arthritis Cerebellar atrophy Bicuspid aortic valve Cafe-au-lait spot Dementia Cardiomyopathy Proteinuria Cholelithiasis Juvenile rheumatoid arthritis Attention deficit hyperactivity disorder Brain atrophy Chorea Rheumatoid arthritis Microdontia Abnormality of skin pigmentation Steatorrhea B-cell lymphoma Bulbous nose Nystagmus Recurrent infections Lymphoma Abnormality of the kidney Failure to thrive Ventricular septal defect Thin upper lip vermilion Arnold-Chiari malformation Microphthalmia Behavioral abnormality Patent ductus arteriosus Ptosis Hypermetropia Downslanted palpebral fissures Generalized tonic-clonic seizures Autoimmunity Pallor Triangular face Diarrhea Immunodeficiency Inguinal hernia Fine hair Prominent fingertip pads Metaphyseal dysplasia Metaphyseal widening Laryngomalacia Mild short stature Pulmonary lymphangiectasia Monocytosis Broad toe Metaphyseal irregularity Constipation Arteritis Abnormality of the mediastinum Genu varum Reduced factor IX activity Severe muscular hypotonia Reduced factor XII activity Juvenile myelomonocytic leukemia Reduced prothrombin activity Rhizomelia Reduced factor X activity Abnormality of the subarachnoid space High myopia Chylothorax Respiratory tract infection Hypoplasia of olfactory tract Broad forehead Hypochromic microcytic anemia Thick vermilion border Cyanosis Hip dysplasia Wide intermamillary distance Esotropia Webbed neck Abnormal bleeding Ascites Highly arched eyebrow Low-set, posteriorly rotated ears Mitral regurgitation Feeding difficulties in infancy Postnatal growth retardation Sparse hair Bruising susceptibility Falls Joint hypermobility Abnormality of the foot Pulmonic stenosis Leukemia Epistaxis Lymphedema Abnormality of the spleen Pleural effusion Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pectus carinatum Hydrops fetalis Failure to thrive in infancy Poor suck Deep philtrum Torticollis Exocrine pancreatic insufficiency Vasculitis Joint laxity Bilateral single transverse palmar creases Aortic valve stenosis Bilateral ptosis Craniosynostosis Severe failure to thrive Meningocele Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Tetany Myelomeningocele Truncus arteriosus Sclerocornea Hypoparathyroidism Interrupted aortic arch Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Graves disease Perimembranous ventricular septal defect Nasal speech Aplasia of the thymus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Conotruncal defect Femoral hernia Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Psoriasiform dermatitis Schizophrenia Mild global developmental delay Hypertonia Cleft lip Telecanthus Hydronephrosis Umbilical hernia Retrognathia Narrow mouth Abnormal heart morphology Obesity Hydrocephalus Macrotia Hypoplasia of the corpus callosum Cleft palate Micrognathia Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Abnormality of the pinna Blepharophimosis Purpura Coarctation of aorta Hypocalcemia Spina bifida Exotropia Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Short palpebral fissure Tetralogy of Fallot Short philtrum Amenorrhea Specific learning disability Renal agenesis Bifid uvula High, narrow palate Hemolytic anemia Iris coloboma Polymicrogyria Microtia Hepatosplenomegaly Dentinogenesis imperfecta High forehead Freckling Numerous pigmented freckles Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Neoplasm of the skin Nyctalopia Decreased body weight Cutaneous photosensitivity Prominent nose Delayed myelination Progressive cerebellar ataxia Muscle cramps Papule Erythema Depressivity Optic disc pallor Deeply set eye Photoreceptor layer loss on macular OCT Developmental regression Osteopenia Pneumonia Headache Kyphosis Abnormality of the dentition Congestive heart failure Vomiting Ring scotoma Retinal atrophy Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Macular edema Anisocytosis Abnormality of the nervous system Photophobia Scarring Generalized myoclonic seizures Delayed ability to walk Obsessive-compulsive behavior Cerebral visual impairment Broad-based gait Status epilepticus Hypsarrhythmia Epileptic encephalopathy Downturned corners of mouth Agenesis of corpus callosum Synophrys Abnormal cardiac septum morphology Wide mouth Autistic behavior Autism Wide nasal bridge Hyperreflexia Visual impairment Enlarged cisterna magna Conductive hearing impairment Hyperactivity Short 1st metacarpal Cerebral atrophy Tremor Sensorineural hearing impairment Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Fused cervical vertebrae Duodenal atresia Vesicoureteral reflux Absent septum pellucidum Absent thumb Patent foramen ovale Optic nerve hypoplasia Horseshoe kidney Short thumb Renal hypoplasia Growth hormone deficiency Hyperlordosis Stroke Gastroesophageal reflux Right ventricular cardiomyopathy Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Cellular immunodeficiency Abnormal T cell morphology Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Encephalomalacia Abnormal immunoglobulin level Abnormality of the vasculature Frontal bossing Polyhydramnios Prominent forehead Pectus excavatum Long philtrum Splenomegaly Myopathy Respiratory distress Anteverted nares Gait disturbance Moyamoya phenomenon Optic atrophy Macrocephaly Epicanthus Muscular hypotonia Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Transient ischemic attack Protuberant abdomen Corneal opacity Waddling gait Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Premature birth Lymphopenia Migraine Gliosis Abnormal cerebellum morphology Nephropathy Stage 5 chronic kidney disease Malabsorption Platyspondyly Hip dislocation Abnormality of epiphysis morphology Opacification of the corneal stroma Glomerulopathy Nephritis Multiple cafe-au-lait spots Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Atherosclerosis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Type I truncus arteriosus



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