Anemia, and Osteosarcoma

Diseases related with Anemia and Osteosarcoma

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


Top matches:

Medium 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

Medium match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Medium match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

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Other less relevant matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


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). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

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 OSTEOGENIC SARCOMA


OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

Top 5 symptoms//phenotypes associated to Anemia and Osteosarcoma

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Short thumb Sarcoma Strabismus Cleft palate Myelodysplasia Frontal bossing Glaucoma Diarrhea Absent thumb Skin rash Hypoplasia of the radius Downslanted palpebral fissures Hypertelorism Vomiting Hearing impairment High palate Flexion contracture Microcephaly Neutropenia Intrauterine growth retardation Poikiloderma

Rare Symptoms - Less than 30% cases


Aplasia/Hypoplasia of the thumb Retrognathia Concave nasal ridge Aplasia/Hypoplasia of the patella Basal cell carcinoma Squamous cell carcinoma Low-set, posteriorly rotated ears Nystagmus Anteriorly placed anus Cutaneous photosensitivity Microdontia Nausea and vomiting Skeletal dysplasia Abnormality of the kidney Hydrocephalus Seizures Fatigue Cryptorchidism Bilateral radial aplasia Retinoblastoma Epicanthus Anemia of inadequate production Chromosome breakage Acute myeloid leukemia Talipes equinovarus Absent radius Lymphoma Broad forehead Leukemia Rectovaginal fistula Proptosis Malar flattening Failure to thrive Anal atresia Short neck Nail dystrophy Hypogonadism Short nose Scoliosis Ventricular septal defect Thrombocytopenia Abnormal heart morphology Abnormal facial shape Abnormal cardiac septum morphology Flat forehead Abnormality of the skeletal system Neurofibromas Astrocytoma Chondrosarcoma Webbed neck Blindness Pancytopenia Growth hormone deficiency Microcornea Neoplasm of the skin Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Hypodontia Increased mean corpuscular volume Colon cancer Congenital glaucoma Myeloid leukemia Aplastic anemia 11 pairs of ribs Short palpebral fissure Vertebral fusion Congenital hip dislocation Telangiectasia Hypoplastic ilia Thrombocytosis Macrocytic anemia Partial duplication of thumb phalanx Delayed eruption of teeth Hypopigmentation of the skin Feeding difficulties Pyloric stenosis Sparse hair Kyphoscoliosis Small for gestational age Mandibular prognathia Hyperkeratosis Osteoporosis Alopecia Microphthalmia Corneal opacity Hypertension Hip dislocation Sensorineural hearing impairment Erythroid hypoplasia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Flat face Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Short palm Small hand Short foot Branchial cyst Erythema Dermal atrophy Behavioral abnormality Premature graying of hair Shallow orbits Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Choanal stenosis Coronal craniosynostosis Carpal synostosis Patellar hypoplasia Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Oligodactyly Short humerus Narrow nasal bridge Hallux valgus Hypoplasia of the ulna Anterior plagiocephaly Hand oligodactyly Trigonocephaly Limited shoulder movement Abnormality of metabolism/homeostasis Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Perineal fistula Limited elbow movement Bicoronal synostosis Aplasia of metacarpal bones Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Lambdoidal craniosynostosis Tracheoesophageal fistula Failure to thrive in infancy Agenesis of permanent teeth Juvenile cataract Abnormality of cardiovascular system morphology Triphalangeal thumb Optic atrophy Myopia Motor delay Forearm reduction defects Zonular cataract Annular pancreas Prominent forehead Duodenal stenosis Iris atrophy Skin erosion Acantholysis Patellar aplasia Proportionate short stature Increased number of teeth Skin vesicle Agenesis of corpus callosum Brachycephaly Abnormality of the metacarpal bones Prominent nose Spina bifida occulta Narrow face Abnormal vertebral morphology Large fontanelles Renal dysplasia Bowing of the long bones Hypotelorism Underdeveloped nasal alae Vesicoureteral reflux Narrow mouth Bifid uvula Polymicrogyria Facial asymmetry Malabsorption Prominent nasal bridge Craniosynostosis Hydronephrosis Conductive hearing impairment Delayed cranial suture closure Aplasia/Hypoplasia of the eyebrow Abnormality of the hand Osteopenia Absent eyelashes Prematurely aged appearance Absent eyebrow Brittle hair Palmoplantar keratoderma Hypotrichosis Neoplasm of the parathyroid gland Pain Neoplasm of the adrenal cortex Hemangiomatosis Osteochondroma Multiple enchondromatosis Multiple exostoses Parathyroid adenoma Pituitary adenoma Hypoplasia of teeth Visual impairment Ovarian neoplasm Uveitis Anisocoria Ocular pain Vitreous hemorrhage Inflammatory abnormality of the eye Buphthalmos Acute monocytic leukemia Cellulitis Headache Increased intracranial pressure Anorexia Postural instability Abnormality of skin pigmentation Carcinoma Weight loss Visual loss Exostoses Pathologic fracture Soft tissue sarcoma Lymphadenopathy Lymphopenia Bronchiectasis Abnormal lung morphology Inflammatory abnormality of the skin Eczema Hemolytic anemia Ichthyosis Recurrent skin infections Dry skin Respiratory tract infection Postnatal growth retardation Hypothyroidism Respiratory failure Recurrent infections Immunodeficiency Abnormal intestine morphology Erythroderma Goiter Bone pain Breast carcinoma Hemangioma Venous thrombosis Cerebral palsy Cranial nerve paralysis Osteolysis Subcutaneous nodule Autoimmune hemolytic anemia Recurrent fractures Dysphagia Erythroid dysplasia Folliculitis Protein-losing enteropathy Severe intrauterine growth retardation Atopic dermatitis Leiomyosarcoma Leukocoria Abnormal dermatoglyphics Underdeveloped supraorbital ridges Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Myelomeningocele Protruding tongue Microcytic anemia Reduced alpha/beta synthesis ratio Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Dental crowding Abnormality of the genital system Hypochromic anemia Hemoglobin H Bruising susceptibility Cleft upper lip Bone marrow hypocellularity Hydrops fetalis Depressed nasal ridge Coarctation of aorta Premature birth Nausea Narrow chest Triangular nasal tip Lethargy Pallor Cleft lip Congestive heart failure Edema Atrial septal defect Neurocytoma Macroglossia Talipes Malar rash Hyphema Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Neoplasm of the eye Global developmental delay Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Neuroblastic tumors Muscular hypotonia Congenital cataract Patent ductus arteriosus Neurological speech impairment Microtia Pectus carinatum Intellectual disability, moderate High forehead Micropenis Hypospadias Ptosis Obesity Hernia Long philtrum Respiratory distress Anteverted nares Wide nasal bridge Depressed nasal bridge Embryonal neoplasm



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