Anemia, and Ectodermal dysplasia

Diseases related with Anemia and Ectodermal dysplasia

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

Top matches:

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

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

Other less relevant matches:

Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

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

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Related symptoms:

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY ELLIPTOCYTOSIS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Ectodermal dysplasia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) and Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or NipplesAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2 ) is caused by mutation in the PTPRF gene (OMIM ) on chromosome 1p34.

ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA Is also known as athelia|amazia|amastia|isolated congenital amastia

Related symptoms:

  • Ectodermal dysplasia
  • Choanal atresia
  • Hyperthyroidism
  • Aplasia/Hypoplasia of the nipples
  • Absent nipple


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA

Top 5 symptoms//phenotypes associated to Anemia and Ectodermal dysplasia

Symptoms // Phenotype % cases
Pneumonia Uncommon - Between 30% and 50% cases
Anhidrotic ectodermal dysplasia Rare - less than 30% cases
Immunodeficiency Rare - less than 30% cases
Neoplasm Rare - less than 30% cases
Edema Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Jaundice Global developmental delay Seizures Cholelithiasis Stooped posture Fractures of the long bones Bilateral choanal atresia Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Cranial hyperostosis Hip osteoarthritis Extramedullary hematopoiesis Erythema Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Rhinitis Osteomyelitis Hyperostosis Aplasia/Hypoplasia of the breasts Hyperpigmentation of the skin Pruritus Intellectual disability, profound Delayed puberty Choanal atresia Hyperthyroidism Delayed speech and language development Intellectual disability Elliptocytosis Respiratory distress Fatigue Leukemia Heart murmur Stroke Cirrhosis Aplasia/Hypoplasia of the nipples Hypertension Pain Abnormality of the heme biosynthetic pathway Microcytic anemia Abnormality of pelvic girdle bone morphology Absent nipple Decreased liver function Cutaneous photosensitivity Eczema Increased susceptibility to fractures Hypocalcemia Abnormality of the metacarpal bones Growth delay Abnormality of the skeletal system Frontal bossing Macrocephaly Optic atrophy Visual impairment Muscle weakness Strabismus Micrognathia Nystagmus Hypertelorism Scoliosis Blindness Hearing impairment Short stature Recurrent mycobacterium avium complex infections Impaired memory B cell generation Increased IgM level IgG deficiency IgA deficiency Autoimmune hemolytic anemia Bronchiectasis Sepsis Hemolytic anemia Hydrocephalus Abnormality of the dentition Cranial nerve paralysis Neurodegeneration Joint dislocation Bone marrow hypocellularity Increased bone mineral density Bone pain Lymphedema Abnormality of epiphysis morphology Recurrent urinary tract infections Abnormality of the metaphysis Osteoarthritis Pancytopenia Recurrent fractures Short distal phalanx of finger Dilatation Genu valgum Carious teeth Paralysis Facial palsy Arthritis Hepatosplenomegaly Mandibular prognathia Proptosis Visual loss Thrombocytopenia Recurrent infections Hypoplastic areola


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