Anemia, and Abnormality of the metaphysis

Diseases related with Anemia and Abnormality of the metaphysis

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match GHOSAL HEMATODIAPHYSEAL DYSPLASIA


Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

GHOSAL HEMATODIAPHYSEAL DYSPLASIA Is also known as ghosal syndrome|diaphyseal dysplasia-anemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Gait disturbance
  • Splenomegaly
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GHOSAL HEMATODIAPHYSEAL DYSPLASIA

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Low match MAJEED SYNDROME


Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

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 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 OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Splenomegaly Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Metaphyseal irregularity Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly

Rare Symptoms - Less than 30% cases


Thyroiditis Fever Edema Constipation Papule Generalized hypotonia Short stature Leukocytosis Inflammatory abnormality of the skin Hashimoto thyroiditis Leukopenia Diarrhea Increased bone mineral density Autoimmunity Leukemia Prolonged partial thromboplastin time High palate Normocytic anemia Prolonged prothrombin time Severe failure to thrive Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Immunodeficiency Low-set ears Mild global developmental delay High myopia Exocrine pancreatic insufficiency Metaphyseal dysplasia Rhizomelia Feeding difficulties Myopia Respiratory tract infection Neurodevelopmental delay Pneumonia Mild short stature Metaphyseal widening Laryngomalacia Genu varum Neutropenia Severe muscular hypotonia Steatorrhea Pruritus Alopecia Hypoplasia of the thymus Erythroderma Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Severe combined immunodeficiency Hypoproteinemia Recurrent viral infections Cellular immunodeficiency Eosinophilia Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Scaling skin Disproportionate short-limb short stature Severe short stature Lymphadenopathy Hypothyroidism Hepatosplenomegaly Skin rash Microcephaly Hypotrichosis Dry skin Sepsis Shock Lymphoma Nephrotic syndrome Thickened skin Chronic diarrhea Short toe Increased body weight Recurrent bacterial infections Growth delay Microscopic hematuria Global developmental delay Myelofibrosis Polydipsia Hypercalcemia Hypercalciuria Tachypnea Aminoaciduria Cyanosis Recurrent fractures Narrow chest Feeding difficulties in infancy Dyspnea Muscular hypotonia Hyperostosis cranialis interna Diaphyseal dysplasia Refractory anemia Diaphyseal thickening Hypophosphatemia Craniofacial hyperostosis Abnormality of tibia morphology Abnormality of femur morphology Abnormal cortical bone morphology Abnormality of immune system physiology Hyperostosis Abnormality of pelvic girdle bone morphology Bone marrow hypocellularity Bowing of the long bones Abnormal form of the vertebral bodies Neurological speech impairment Gait disturbance Pain Hyperpigmentation of the skin Polyuria Abnormality of the thyroid gland Abnormal erythrocyte morphology Malabsorption Hemolytic anemia Abnormal inflammatory response Chronic recurrent multifocal osteomyelitis Abnormality of bone marrow cell morphology Congenital hypoplastic anemia Synovitis Hypochromic microcytic anemia Pulmonary infiltrates Pustule Glomerulopathy Acne Increased susceptibility to fractures Cachexia Bone pain Cough Hyperparathyroidism Proteinuria Myalgia Arthralgia Weight loss Headache Flexion contracture Abnormality of calcium-phosphate metabolism Parathyroid hyperplasia Parathyroid adenoma Primary hyperparathyroidism Hyperphosphaturia Elevated circulating parathyroid hormone level Neoplasm of the endocrine system Calcinosis Severe B lymphocytopenia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Omphalocele, related diseases and genetic alterations Congestive heart failure and Encephalocele, related diseases and genetic alterations Optic atrophy and Metabolic acidosis, related diseases and genetic alterations Macrocephaly and Spinal muscular atrophy, related diseases and genetic alterations Cardiomyopathy and Chorea, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more