Anemia, and Abnormal facial shape

Diseases related with Anemia and Abnormal facial shape

In the following list you will find some of the most common rare diseases related to Anemia and Abnormal facial shape 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 4; DBA4


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
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

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Other less relevant matches:

Low match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA Is also known as camt|congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Short stature
  • Scoliosis
  • Anemia
  • Short neck
  • Thrombocytopenia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA

Low match PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

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 ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Abnormal facial shape

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Myelodysplasia Rare - less than 30% cases
Thrombocytopenia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Anemia and Abnormal facial shape. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Recurrent infections Microcephaly Diarrhea Intrauterine growth retardation Hernia Short stature Lymphopenia Respiratory insufficiency Global developmental delay Seizures Ventriculomegaly Neoplasm Respiratory distress Hypoplasia of the corpus callosum Vomiting Hypertonia Hyperpigmentation of the skin Myoclonus Acidosis Intellectual disability Elevated alkaline phosphatase Facial hyperostosis Paraplegia Amegakaryocytic thrombocytopenia Megakaryocytopenia Visual loss Proptosis Umbilical hernia Facial asymmetry Hemangioma Diastasis recti Increased intracranial pressure Generalized tonic-clonic seizures Precocious puberty Gingival bleeding Hiatus hernia Spinal cord compression Apnea Clonus Poor speech Lymphadenopathy Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Atopic dermatitis Autoimmune hemolytic anemia Erythroderma Recurrent skin infections Abnormal intestine morphology Bronchiectasis Abnormal lung morphology Inflammatory abnormality of the skin Eczema Hemolytic anemia Ichthyosis Metabolic acidosis Fetal distress Abdominal distention Brain atrophy Postnatal microcephaly Decreased skull ossification Muscle fibrillation Enterocolitis Prenatal movement abnormality Dry skin Blindness Glaucoma Respiratory failure Hypothyroidism Postnatal growth retardation Respiratory tract infection Abnormal hemoglobin Coarse facial features Thrombocytosis Generalized hypotonia Acute myelomonocytic leukemia Juvenile myelomonocytic leukemia Monocytosis Refractory anemia Myeloproliferative disorder Acute monocytic leukemia Facial hypotonia Acute myeloid leukemia Myeloid leukemia Neurofibromas Leukemia Narrow mouth Splenomegaly Anteverted nares Bird-like facies Hypertelorism B lymphocytopenia Decrease in T cell count Recurrent viral infections Recurrent bacterial infections Sloping forehead Convex nasal ridge Decreased antibody level in blood Bulbous nose Autoimmunity Erythroid hypoplasia Reticulocytopenia Increased mean corpuscular volume Macrocytic anemia Atrial septal defect Chronic myelomonocytic leukemia Failure to thrive Melanocytic nevus Trichorrhexis nodosa Bone marrow hypocellularity Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Pancytopenia Abnormal cardiac septum morphology Short neck Scoliosis Decreased serum iron Uncombable hair Pili canaliculi Intractable diarrhea Chronic hepatitis Bloody diarrhea Hypochromic microcytic anemia Villous atrophy Depressed nasal bridge Woolly hair Microcytic anemia Colitis Brittle hair Chronic diarrhea Hepatitis Wide nose Cirrhosis Small for gestational age Sparse hair Abnormality of the liver Prominent forehead Wide nasal bridge Hepatomegaly Erythroid dysplasia



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