Autoimmunity, and Osteosarcoma

Diseases related with Autoimmunity and Osteosarcoma

In the following list you will find some of the most common rare diseases related to Autoimmunity 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 MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

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Other less relevant matches:

Low match LI-FRAUMENI SYNDROME


Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Low match LEBER HEREDITARY OPTIC NEUROPATHY


Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy|lhon|leber hereditary optic neuropathy

Related symptoms:

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER HEREDITARY OPTIC NEUROPATHY

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

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match PAGET DISEASE OF BONE 3; PDB3


Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of BoneAlso see PDB2 (OMIM ), caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q21; PDB4 (OMIM ), mapped to chromosome 5q31; PDB5 (OMIM ), caused by mutation in the TNFRSF11B gene (OMIM ) on chromosome 8q24; and PDB6 (OMIM ), caused by mutation in the ZNF687 gene (OMIM ) on chromosome 1q21.Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Bone pain
  • Osteolysis


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 3; PDB3

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant MelanomaThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (OMIM ), caused by variation in the CDKN2A gene (OMIM ) on chromosome 9p21; CMM3 (OMIM ), caused by variation in the CDK4 gene (OMIM ) on chromosome 12q14; CMM4 (OMIM ), mapped to chromosome 1p22; CMM5 (OMIM ), caused by variation in the MC1R gene (OMIM ) on chromosome 16q24; CMM6 (OMIM ), caused by variation in the XRCC3 gene (OMIM ) on chromosome 14q32; CMM7 (OMIM ), mapped to chromosome 20q11; CMM8 (OMIM ), caused by variation in the MITF gene (OMIM ) on chromosome 3p13; CMM9 (OMIM ), caused by variation in the TERT gene (OMIM ) on chromosome 5p15; and CMM10 (OMIM ), caused by mutation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (OMIM ), STK11 (OMIM ), PTEN (OMIM ), TRRAP (OMIM ), DCC (OMIM ), GRIN2A (OMIM ), ZNF831, BAP1 (OMIM ), and RASA2 (OMIM ). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) (Davies et al., 2002; Pollock et al., 2003).

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 Is also known as familial atypical mole-malignant melanoma syndrome|b-k mole syndrome|melanoma, familial|dns|dysplastic nevus syndrome, hereditary|cmm|melanoma, cutaneous malignant|mlm|fammm|melanoma, malignant

Related symptoms:

  • Neoplasm
  • Abnormality of the eye
  • Retinopathy
  • Nevus
  • Neoplasm of the skin


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

Top 5 symptoms//phenotypes associated to Autoimmunity and Osteosarcoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Sarcoma Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Eczema Melanoma Abnormal facial shape

Rare Symptoms - Less than 30% cases


Patchy osteosclerosis Carcinoma Leukemia Nevus Chondrosarcoma Hypogonadism Vomiting Depressed nasal bridge Elevated alkaline phosphatase Growth delay Poikiloderma Hearing impairment Cutaneous photosensitivity Pathologic fracture Freckling Skin rash Hyperkeratosis Alopecia Osteopenia Myopathy Frontal bossing Cataract Pain Fractures of the long bones Colon cancer Myelodysplasia Telangiectasia Respiratory tract infection Hypothyroidism Erythroderma Plethora Respiratory failure Visual impairment Neutropenia Diarrhea Postnatal growth retardation Abnormality of movement Giant somatosensory evoked potentials Confusion Retinal telangiectasia Mitochondrial respiratory chain defects Polyneuropathy Postural tremor Vitritis Centrocecal scotoma Slow decrease in visual acuity Marcus Gunn pupil Central retinal vessel vascular tortuosity Abnormality of head blood vessel Abnormality of the nervous system Reduced visual acuity Reduced OCT-measured macular thickness Gait ataxia Myoclonus Pseudopapilledema Vascular tortuosity Migraine Papilledema Abnormal electroretinogram Atrioventricular block Constriction of peripheral visual field Incoordination Blurred vision Scotoma Optic neuropathy Central scotoma Abnormality of visual evoked potentials Vasculitis Increased reactive oxygen species production Ventricular preexcitation Dyschromatopsia Amblyopia Wolff-Parkinson-White syndrome Leber optic atrophy Neuritis Optic disc pallor Retinal vascular tortuosity Abnormality of the optic disc Progressive visual loss Abnormality of mitochondrial metabolism Optic neuritis Abnormality of metabolism/homeostasis Erythema Retinoblastoma Atrophic scars Recurrent respiratory infections Mandibular prognathia Cough Nail dystrophy Carious teeth Palmoplantar keratoderma Asthma Otitis media Recurrent otitis media Recurrent pneumonia Conjunctivitis Increased antibody level in blood Wheezing Midface retrusion Blepharitis Subungual hyperkeratosis Abnormality of the eye Retinopathy Melanocytic nevus Blue irides Cutaneous melanoma Pancreatic adenocarcinoma Numerous nevi Uveal melanoma Oropharyngeal squamous cell carcinoma Atypical nevus Atypical nevi in non-sun exposed areas Pneumonia Malar flattening Embryonal neoplasm Sparse scalp hair Intellectual disability Feeding difficulties Edema Abnormality of the dentition Prominent forehead Osteoporosis Hyperhidrosis Visual loss Sparse hair Abnormality of skin pigmentation Hypopigmentation of the skin Abnormal blistering of the skin Overgrowth Squamous cell carcinoma Short nose Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Bone pain Osteolysis Increased susceptibility to fractures Hypertelorism Splenomegaly Arrhythmia Adrenocortical carcinoma Headache Acne Nephrolithiasis Tall stature Cafe-au-lait spot Decreased liver function Gynecomastia Aspiration Nephrocalcinosis Goiter Hypercalciuria Precocious puberty Hypercalcemia Rickets Hyperostosis Amenorrhea Adrenal insufficiency Hypophosphatemia Neurofibromas Abnormality of the thyroid gland Hyperparathyroidism Hyperthyroidism Osteomalacia Growth hormone excess Syringomyelia Increased circulating cortisol level Prolactin excess Pituitary adenoma Primary amenorrhea Abdominal distention Intestinal polyposis Lymphopenia Anemia Intrauterine growth retardation Immunodeficiency Recurrent infections Glaucoma Dry skin Ichthyosis Lymphadenopathy Hemolytic anemia Inflammatory abnormality of the skin Abnormal lung morphology Bronchiectasis Abnormal intestine morphology Hirsutism Recurrent skin infections Autoimmune hemolytic anemia Atopic dermatitis Severe intrauterine growth retardation Protein-losing enteropathy Folliculitis Erythroid dysplasia Congestive heart failure Hyperactivity Synophrys Facial asymmetry Infertility Pituitary hypothyroidism Craniofacial hyperostosis Dystonia Stomach cancer Breast carcinoma Nephroblastoma Hodgkin lymphoma Acute lymphoblastic leukemia Neoplasm of the lung Progressive encephalopathy Neoplasm of the pancreas Acute leukemia Brain neoplasm Medulloblastoma Prostate cancer Rhabdomyosarcoma Soft tissue sarcoma Osteomyelitis leading to amputation due to slow healing fractures Lung adenocarcinoma Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the colon Neoplasm of the adrenal cortex Prostate neoplasm Ataxia Peripheral neuropathy Optic atrophy Tremor Behavioral abnormality Lymphoma Diaphyseal cortical sclerosis Ovarian cyst Skeletal dysplasia Pseudohypoparathyroidism Hamartomatous polyposis Multinodular goiter Myelofibrosis Axillary freckling Thyroid nodule Polyostotic fibrous dysplasia Precocious puberty in females Large cafe-au-lait macules with irregular margins Monostotic fibrous dysplasia Muscle weakness Skeletal muscle atrophy Proximal muscle weakness Stenosis of the medullary cavity of the long bones Limb muscle weakness Bruising susceptibility Thin skin Bowing of the legs Osteomyelitis Premature graying of hair Soft skin Limb-girdle muscle weakness Limb-girdle muscle atrophy Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Pancreatic squamous cell carcinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Dilated cardiomyopathy, related diseases and genetic alterations

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