Immunodeficiency, and Osteosarcoma

Diseases related with Immunodeficiency and Osteosarcoma

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

Top matches:

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

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Low match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Other less relevant matches:

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Osteosarcoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Sarcoma Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Lymphoma Pneumonia Splenomegaly Lymphopenia Growth delay Leukemia Pancytopenia Hemolytic anemia Fever Intrauterine growth retardation Recurrent infections Seizures Cataract Cellular immunodeficiency Combined immunodeficiency Microcephaly Acute leukemia Short stature Global developmental delay Respiratory failure Intellectual disability Recurrent respiratory infections Respiratory tract infection Depressed nasal bridge Bronchiectasis Sinusitis Eczema Autoimmune hemolytic anemia Myelodysplasia Abnormal facial shape

Rare Symptoms - Less than 30% cases

Hodgkin lymphoma Low-set ears Hepatomegaly Cleft palate Micrognathia Nystagmus Hypertelorism Decreased antibody level in blood Hepatic failure B-cell lymphoma Meningitis Vasculitis Bone marrow hypocellularity Dysgammaglobulinemia Anteverted nares Aplastic anemia Anorectal anomaly Hyperkeratosis Short neck Intellectual disability, moderate Scoliosis Macrotia Interstitial pneumonitis Blepharitis Hyperostosis Skin ulcer Chronic diarrhea Specific learning disability Otitis media Sudden cardiac death Cachexia Ataxia Hypospadias Rhabdomyosarcoma Recurrent lower respiratory tract infections Acute lymphoblastic leukemia Carious teeth Hyperpigmentation of the skin Primary amenorrhea Amenorrhea Neurofibromas Abnormality of skin pigmentation Small for gestational age Upslanted palpebral fissure Renal cyst Cerebellar hypoplasia Abnormality of dental enamel Autoimmunity Severe intrauterine growth retardation Fatigue Abnormal intestine morphology Lymphedema Neoplasm of the skin Hemangioma Abnormal lung morphology Macule Generalized lymphadenopathy Neutropenia Generalized hypotonia Postnatal growth retardation Hepatosplenomegaly Hypermelanotic macule Nail dysplasia Glaucoma Recurrent pneumonia Thick nasal alae Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Nail pits Asymmetric growth Enlarged polycystic ovaries Visceral angiomatosis Epibulbar dermoid Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Subcutaneous nodule Arterial thrombosis Anisocytosis Thickened skin Hemihypertrophy Venous malformation Goiter Nephrogenic diabetes insipidus Narrow internal auditory canal Squamous cell carcinoma of the skin Urethral stenosis Abnormality of neutrophils Thymus hyperplasia Nevus sebaceous Aplastic/hypoplastic toenail Abnormal form of the vertebral bodies Porokeratosis Facial hyperostosis Sirenomelia Abnormality of the neck Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Heterotopia Lymphangioma Testicular neoplasm Upper limb asymmetry Rough bone trabeculation Keloids Arteriovenous malformation Lower limb asymmetry Melanocytic nevus Multiple cafe-au-lait spots Multiple lipomas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Generalized hirsutism Diabetes insipidus Chorioretinal coloboma Ovarian neoplasm Congenital bullous ichthyosiform erythroderma Lipodystrophy Displacement of the external urethral meatus Venous thrombosis Growth abnormality Reduced number of teeth Abnormality of the metacarpal bones Palmar hyperkeratosis Palmoplantar hyperkeratosis Hamartoma Generalized hyperpigmentation Abnormality of retinal pigmentation Capillary hemangioma Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Bronchogenic cyst Esophageal stenosis Abnormality of finger Spinal cord compression Abnormal vertebral morphology Pulmonary embolism Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Reticular hyperpigmentation Abnormality of the nail Spinal canal stenosis Retinal hamartoma Hypertrophy of skin of soles Retinal nonattachment Premature graying of hair Epiphora Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Abnormality of chromosome stability Medulloblastoma Pulmonary fibrosis Abnormality of coagulation Recurrent infection of the gastrointestinal tract Skin vesicle Aplasia/Hypoplasia of the skin Telangiectasia of the skin Aseptic necrosis Premature loss of teeth Recurrent sinopulmonary infections Abnormal eyelash morphology Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality T-cell lymphoma Penoscrotal hypospadias Neuroblastoma Sparse hair Hypodontia Recurrent fractures Palmoplantar keratoderma Abnormal blistering of the skin Cirrhosis Cerebral calcification Malabsorption Nail dystrophy Hepatic fibrosis Abnormality of the fingernails Diabetes mellitus Malar prominence Hypopigmented skin patches Osteoporosis Hyperhidrosis Alopecia Abnormality of the dentition Dermal atrophy Tracheoesophageal fistula Hearing impairment Progressive vitiligo Mastoiditis Anal stenosis Abnormality of the musculature Abnormal subcutaneous fat tissue distribution Hyperactivity Prominent nasal bridge Oral leukoplakia Ridged nail Attention deficit hyperactivity disorder Mental deterioration Abnormality of the nervous system Abnormality of female internal genitalia Hydronephrosis Retrognathia Respiratory insufficiency Cleft upper lip Skeletal muscle atrophy Muscle weakness Testicular atrophy Mandibular hyperostosis Abnormality of the pharynx Hypoplasia of the maxilla Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Anal atresia Abnormality of the testis Freckling Abnormal eyebrow morphology Long nose Non-midline cleft lip Epidermal acanthosis Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Low anterior hairline Abnormality of the hair Cafe-au-lait spot Neoplasm of the pancreas Telangiectasia White hair Recurrent urinary tract infections Abnormality of the face Choanal atresia Taurodontia Cutaneous photosensitivity Sloping forehead Periodontitis Convex nasal ridge Prominent nose Neurodegeneration Open mouth Reduced delayed hypersensitivity High myopia Hepatic necrosis Ventriculomegaly Wide nasal bridge Epicanthus Cryptorchidism Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Non-Hodgkin lymphoma Burkitt lymphoma Pure red cell aplasia Short nose Increased IgM level Chorioretinitis Granulomatosis Hepatic encephalopathy Histiocytosis Lymphocytosis Recurrent pharyngitis Immune dysregulation Agammaglobulinemia IgG deficiency Hydrocephalus Long philtrum Encephalitis Wide nose Multiple renal cysts Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Intellectual disability, profound Ambiguous genitalia Oligohydramnios Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Malar flattening Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy High forehead Micropenis Brachycephaly Posteriorly rotated ears Agenesis of corpus callosum Clinodactyly Midface retrusion Increased antibody level in blood Hemiparesis Short sternum Erythroid dysplasia Papule Skin rash Abnormality of the liver Weight loss Encephalopathy Edema Hypertension Kaposi's sarcoma Coombs-positive hemolytic anemia Folliculitis Pulmonary arterial hypertension Protein-losing enteropathy Atopic dermatitis Erythroderma Recurrent skin infections Inflammatory abnormality of the skin Ichthyosis Dry skin Hypothyroidism Blindness Gastrointestinal hemorrhage Abnormal retinal morphology Memory impairment Nephrotic syndrome Falls Dilatation Intermittent diarrhea Amelogenesis imperfecta Hypoplasia of the iris Episodic fever Anhidrosis Recurrent bacterial infections Hypohidrosis Hypoplasia of dental enamel Asthma Abnormality of the gastrointestinal tract Myopathy Muscular hypotonia Neoplasm by anatomical site Susceptibility to herpesvirus Skin plaque Venous insufficiency Skin nodule Abnormality of the spleen Lymphoproliferative disorder Abnormality of the lower limb Mild microcephaly Triangular mouth Overgrowth Reduced lymphocyte surface expression of CD43 Downslanted palpebral fissures Optic atrophy Macrocephaly Myopia Ptosis Pain Strabismus Oral bleeding Specific anti-polysaccharide antibody deficiency Abnormal delayed hypersensitivity skin test Syndactyly Absent microvilli on the surface of peripheral blood lymphocytes Chronic leukemia Recurrent intrapulmonary hemorrhage Small vessel vasculitis Large vessel vasculitis Congenital thrombocytopenia Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Kyphosis Headache Bloody diarrhea Hip dislocation Round face Nevus Gliosis Abdominal distention Polymicrogyria Long face Confusion Facial asymmetry Dolichocephaly Finger syndactyly Abnormality of cardiovascular system morphology Craniosynostosis Joint stiffness Carcinoma Skeletal dysplasia Kyphoscoliosis Proptosis Abdominal pain Constipation Clinodactyly of the 5th finger Visual loss Abnormal eosinophil morphology Spontaneous hematomas Cerebral hypoplasia Nephropathy Chronic kidney disease Recurrent upper respiratory tract infections Purpura Conjunctivitis Recurrent otitis media Epistaxis Chest pain Abnormal bleeding Sepsis Bruising susceptibility Urticaria Cough Proteinuria Arthritis Dyspnea Arrhythmia Renal insufficiency Peripheral neuropathy Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Intracranial hemorrhage Glomerulosclerosis Melena Gingival bleeding Hematemesis Increased IgA level Membranoproliferative glomerulonephritis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections IgM deficiency Hypoplasia of the thymus Chronic obstructive pulmonary disease Hematochezia Iron deficiency anemia Rheumatoid arthritis Glomerulopathy Microcytic anemia Cellulitis Prolonged bleeding time Petechiae Focal segmental glomerulosclerosis Keratitis Inflammation of the large intestine Chronic otitis media Glomerulonephritis Absent lacrimal punctum


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