Anemia, and Cleft palate

Diseases related with Anemia and Cleft palate

In the following list you will find some of the most common rare diseases related to Anemia and Cleft palate 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 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

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Other less relevant matches:

Low match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Low match DIAMOND-BLACKFAN ANEMIA 11; DBA11


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:

  • Short stature
  • Growth delay
  • Cleft palate
  • Anemia
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 11; DBA11

Low match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Low match DIAMOND-BLACKFAN ANEMIA 10; DBA10


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:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


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
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


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

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Top 5 symptoms//phenotypes associated to Anemia and Cleft palate

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Macrocytic anemia Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atresia of the external auditory canal Microtia Conductive hearing impairment Midface retrusion Bifid uvula Micrognathia Abnormal facial shape Neutropenia Patent ductus arteriosus Global developmental delay Malar flattening Neoplasm Intellectual disability Reticulocytopenia Increased mean corpuscular volume Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Hydronephrosis Respiratory distress Hernia Epicanthus Depressed nasal bridge Absent thumb Posteriorly rotated ears Low-set ears Congenital diaphragmatic hernia Generalized hypotonia Bone marrow hypocellularity Sensorineural hearing impairment Broad neck Severe sensorineural hearing impairment Hypoplasia of the radius Short neck Mandibulofacial dysostosis Ventricular septal defect Choanal atresia Mixed hearing impairment Recurrent infections Forearm undergrowth Osteoporosis Anal atresia Vesicoureteral reflux Osteopenia Full cheeks Polyhydramnios Renal hypoplasia Scoliosis Cafe-au-lait spot Tracheoesophageal fistula Esophageal atresia Chromosome breakage Depressed nasal tip Hypoplastic sacrum Rectovaginal fistula Abnormality of chromosome stability Tetralogy of Fallot Small hypothenar eminence Recurrent otitis media Dental crowding Talipes Thin vermilion border Joint hypermobility Flat face Delayed eruption of teeth Esotropia Renal dysplasia Finger clinodactyly Broad forehead Nephrocalcinosis Hypercalciuria Patent foramen ovale Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Synophrys Thin upper lip vermilion Short thumb Vitamin D deficiency Horseshoe kidney Triphalangeal thumb Sprengel anomaly Recurrent lower respiratory tract infections Esophagitis Secundum atrial septal defect Fetal distress Uterine neoplasm Pes planus Strabismus Cataract Delayed speech and language development Talipes equinovarus Clinodactyly Clinodactyly of the 5th finger Narrow mouth Leukemia Sparse and thin eyebrow Micropenis Chronic kidney disease Autism Brachycephaly Intellectual disability, mild Motor delay High palate Microcephaly Velopharyngeal insufficiency Elevated serum creatinine Gout Hyperuricemia Focal segmental glomerulosclerosis Preaxial polydactyly Renal cyst Autistic behavior Hematuria Nephropathy Postnatal growth retardation Abnormality of the kidney Proteinuria Polydactyly Dilatation Hypertension Cognitive impairment Unilateral cryptorchidism Sparse eyelashes Cryptorchidism Abnormality of the pinna Thick eyebrow Microphthalmia Feeding difficulties Hydrocephalus Wide nasal bridge Hypertelorism Cleft soft palate Ectopic kidney Jaundice Respiratory insufficiency Failure to thrive Granulocytopenia Submucous cleft hard palate Sparse eyebrow Webbed neck Forearm reduction defects Highly arched eyebrow Anemia of inadequate production Abnormal eyelid morphology Stenosis of the external auditory canal Hypoplasia of the ulna Radioulnar synostosis Bicuspid aortic valve Renal agenesis Bilateral conductive hearing impairment Increased number of teeth Flat occiput Brittle hair Long eyelashes Single transverse palmar crease Cleft hard palate



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