Anemia, and Polydactyly

Diseases related with Anemia and Polydactyly

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


Top matches:

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 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 BLOOD GROUP, MN; MN


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

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Other less relevant matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT


Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Top 5 symptoms//phenotypes associated to Anemia and Polydactyly

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Intellectual disability Recurrent infections Intrauterine growth retardation Diarrhea Failure to thrive

Rare Symptoms - Less than 30% cases


Seizures Global developmental delay Generalized hypotonia Vomiting Microcephaly Hepatomegaly Renal cyst Immunodeficiency Decreased antibody level in blood Hyperhidrosis Hepatic steatosis Hand polydactyly Abnormality of the liver Abnormal cardiac septum morphology Micrognathia Hypertension Nephropathy Acute myeloid leukemia Myeloid leukemia Postnatal growth retardation Abnormality of cardiovascular system morphology Syndactyly Abnormality of the kidney Cleft palate Pancytopenia Short thumb Abnormal erythrocyte morphology Occipital meningocele Biparietal narrowing Severe vision loss Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Congenital blindness Leukopenia Foot polydactyly Postaxial foot polydactyly Multiple small medullary renal cysts Tubular atrophy Undetectable electroretinogram Hemolytic anemia Autoimmunity Renal sodium wasting Brainstem dysplasia Abnormality of the hypothalamus-pituitary axis Agenesis of cerebellar vermis Congenital hepatic fibrosis Dilated fourth ventricle Aplasia/Hypoplasia of the cerebellar vermis Renal corticomedullary cysts Tubulointerstitial fibrosis Aganglionic megacolon Hypoplasia of the brainstem Iris coloboma Blindness Behavioral abnormality Renal insufficiency Dyspnea Low-set, posteriorly rotated ears Apnea Autistic behavior Wide mouth Coloboma Prominent nasal bridge Severe global developmental delay Stage 5 chronic kidney disease Long face Retinal dystrophy Chorioretinal coloboma Highly arched eyebrow Postaxial hand polydactyly Cerebellar vermis hypoplasia Encephalocele Heterotopia Pachygyria Fatigue Hepatic fibrosis Multicystic kidney dysplasia Intellectual disability, progressive Tachypnea Aplasia/Hypoplasia of the corpus callosum Polycystic kidney dysplasia Polydipsia Depressed nasal bridge Epistaxis Frontal bossing Ecchymosis Limited elbow extension Absent thumb Atrioventricular canal defect Short humerus Oligodactyly Absent radius Thoracic scoliosis Short clavicles Heart block Truncus arteriosus Down-sloping shoulders Secundum atrial septal defect Allergy Complete atrioventricular canal defect Hypoplastic left heart Anomalous pulmonary venous return Phocomelia Total anomalous pulmonary venous return Hematemesis Small thenar eminence Abnormality of the carpal bones Partial duplication of thumb phalanx Aplasia of the ulna Short digit Mesoaxial polydactyly Aplasia of the pectoralis major muscle Tibial torsion Lactose intolerance Patellar subluxation Petechiae Right bundle branch block Abnormality of the skeletal system Coarctation of aorta Ventricular septal defect Respiratory distress Atrial septal defect Pectus excavatum Clinodactyly Patent ductus arteriosus Abnormal heart morphology Nausea Bruising susceptibility Asthma Gastrointestinal hemorrhage Abnormality of the cardiovascular system Mitral valve prolapse Hydrocephalus Bundle branch block Atrial fibrillation Abnormal vertebral morphology Bradycardia Aortic valve stenosis Horseshoe kidney Finger clinodactyly Aortic regurgitation Eosinophilia Hypoplasia of the radius Atrioventricular block Triphalangeal thumb Bowing of the legs Hypoplasia of the ulna Menorrhagia Intellectual disability, severe Chronic lung disease Anteverted nares Lymphopenia Aggressive behavior Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Malabsorption Cirrhosis Postaxial polydactyly Abnormal bleeding Focal-onset seizure Hip dysplasia Decreased fetal movement Cholestasis Chronic diarrhea Hypohidrosis Hyperbilirubinemia Elevated hepatic transaminase Abnormal intestine morphology Inflammation of the large intestine Loss of consciousness Combined immunodeficiency Neurodevelopmental delay Abnormal cortical gyration Proximal tubulopathy Impaired T cell function Micronodular cirrhosis Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Type II transferrin isoform profile Neonatal hypotonia Retrognathia Cardiomyopathy Preaxial polydactyly Hyperpigmentation of the skin Facial palsy Bone marrow hypocellularity Preaxial hand polydactyly Refractory anemia Duplication of thumb phalanx Cognitive impairment Dilatation Proteinuria Hematuria Neutropenia Bifid uvula Chronic kidney disease Focal segmental glomerulosclerosis Polyhydramnios Hyperuricemia Gout Elevated serum creatinine Velopharyngeal insufficiency Abnormal facial shape Epicanthus Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Cerebral atrophy Cerebral cortical atrophy Hyperkeratosis Cryptorchidism Abnormality of the dentition Visual impairment IgM deficiency Squamous cell carcinoma High pitched voice Pulmonary fibrosis Telangiectasia of the skin IgA deficiency Hodgkin lymphoma IgG deficiency Acute leukemia Hypoplasia of the zygomatic bone Chromosome breakage Hypoplastic pelvis Chronic obstructive pulmonary disease Abnormality of the nose Abnormality of chromosome stability Hypopigmented skin patches Decreased fertility in females Female infertility Spotty hypopigmentation Spotty hyperpigmentation Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Scoliosis Ataxia Nystagmus Strabismus Muscular hypotonia Ptosis Reduced number of teeth Sacral dimple Intellectual disability, mild Infertility Short nose Malar flattening Delayed skeletal maturation Clinodactyly of the 5th finger Pneumonia Recurrent respiratory infections Severe short stature Diabetes mellitus Protruding ear Erythema Skin rash Finger syndactyly Dolichocephaly Ichthyosis Azoospermia Lymphoma Prominent nose Abnormality of the skin Otitis media Specific learning disability Type II diabetes mellitus Cutaneous photosensitivity Hypertrichosis Abnormality of the face Bronchiectasis Telangiectasia Cafe-au-lait spot Sinusitis Narrow face Quadricuspid aortic valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Pectus excavatum, related diseases and genetic alterations Abnormality of the skeletal system and Narrow mouth, related diseases and genetic alterations Myopia and Systemic lupus erythematosus, related diseases and genetic alterations Intellectual disability, severe and Coarse facial features, related diseases and genetic alterations Nystagmus and Arrhythmia, related diseases and genetic alterations

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