Cognitive impairment, and Osteosarcoma

Diseases related with Cognitive impairment and Osteosarcoma

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


Top matches:

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 PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Low 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

Mendelian

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

Learn more

Other less relevant matches:

Low 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

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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 FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

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 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

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

Top 5 symptoms//phenotypes associated to Cognitive impairment 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
Micropenis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertelorism

Rare Symptoms - Less than 30% cases


Vomiting Fractures of the long bones Congestive heart failure Retinopathy Chondrosarcoma Short neck Downslanted palpebral fissures Cryptorchidism Cutaneous melanoma Talipes equinovarus Atrial septal defect High palate Flexion contracture High forehead Patchy osteosclerosis Nausea Webbed neck Macroglossia Bruising susceptibility Melanoma Premature graying of hair Retrognathia Microcephaly Failure to thrive Micrognathia Cataract Anemia Carcinoma Fatigue Pain Myelodysplasia Peripheral neuropathy Papilledema Myeloid leukemia Leukemia Myopathy Behavioral abnormality Skeletal muscle atrophy Visual impairment Headache Colon cancer Parietal foramina Laryngomalacia Breast carcinoma Congenital hypoplastic anemia Diabetes mellitus Everted upper lip vermilion Erythroid hypoplasia Atherosclerosis Branchial cyst Macular degeneration Partial duplication of thumb phalanx Polydipsia Dermal atrophy Lipodystrophy Abnormality of the voice Hypoplastic anemia Abnormality of the thorax Unilateral cleft lip Rocker bottom foot Polyuria Reticulocytopenia Squamous cell carcinoma High pitched voice Anemia of inadequate production Increased mean corpuscular volume Polyphagia Decreased fertility Persistence of hemoglobin F Hypergonadotropic hypogonadism Type I diabetes mellitus Retinal degeneration Chest pain Coma Hypopigmentation of the skin Abnormality of the dentition Small hand Nephropathy Alopecia Decreased testicular size Joint stiffness Proptosis Hyperkeratosis Rod-cone dystrophy Osteoporosis Hypogonadism Convex nasal ridge Type II diabetes mellitus Spontaneous abortion Abnormality of the hair Hoarse voice Increased bone mineral density Elevated red cell adenosine deaminase activity Bifid thoracic vertebrae Narrow face Transient erythroblastopenia Skin ulcer Sparse scalp hair Hypoplastic coccygeal vertebrae Insulin resistance Hypoplastic sacral vertebrae Hypertension Abnormality of retinal pigmentation Decreased body weight Myocardial infarction Ataxia Lipoatrophy Neoplasm of the skin Oropharyngeal squamous cell carcinoma Uveal melanoma Numerous nevi Pancreatic adenocarcinoma Blue irides Freckling Melanocytic nevus Nevus Atypical nevi in non-sun exposed areas Abnormality of the eye Increased susceptibility to fractures Elevated alkaline phosphatase Osteolysis Bone pain Hearing impairment Hypertonia Atypical nevus Pancreatic squamous cell carcinoma Embryonal neoplasm Limb-girdle muscle weakness Diaphyseal cortical sclerosis Stenosis of the medullary cavity of the long bones Histiocytoma Metaphyseal striations Presenile cataracts Fibrosarcoma Limb-girdle muscle atrophy Soft skin Muscle weakness Pathologic fracture Osteomyelitis Bowing of the legs Thin skin Limb muscle weakness Proximal muscle weakness Skeletal dysplasia Osteopenia Retinoblastoma Aplasia/Hypoplasia of the skin Neoplasm of the lung Peripheral arterial stenosis Abnormality of the cerebral vasculature Renal neoplasm Meningioma Progeroid facial appearance Posterior subcapsular cataract Pulmonary artery stenosis Alopecia of scalp Chondrocalcinosis Premature loss of teeth Subcapsular cataract 11 pairs of ribs Prematurely aged appearance Ovarian neoplasm Secondary amenorrhea Scleroderma Telangiectasia of the skin Lack of skin elasticity Pili torti Abnormality of metabolism/homeostasis Poliosis Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Abnormal hair whorl Abnormality of the testis Soft tissue sarcoma Chorioretinitis Narrow nasal ridge Arteriosclerosis Enlarged joints Thyroid carcinoma White forelock Slender build Aplastic anemia Coarctation of aorta Hypoplastic ilia Marcus Gunn pupil Feeding difficulties Low-set ears Abnormal facial shape Reduced OCT-measured macular thickness Abnormality of head blood vessel Central retinal vessel vascular tortuosity Centrocecal scotoma Hydrocephalus Vitritis Plethora Mitochondrial respiratory chain defects Retinal telangiectasia Giant somatosensory evoked potentials Pseudopapilledema Slow decrease in visual acuity Abnormality of the skeletal system Recurrent infections Optic neuritis Increased intracranial pressure Choroid plexus papilloma Papilloma Broad ribs Choanal stenosis Broad neck Upper limb undergrowth Loss of consciousness Sleep apnea Midface retrusion Hypertrichosis Delayed eruption of teeth Apnea Hydronephrosis Respiratory failure Pneumonia Depressivity Ventricular preexcitation Vascular tortuosity Global developmental delay Reduced visual acuity Optic disc pallor Progressive visual loss Migraine Polyneuropathy Confusion Abnormality of movement Abnormality of the nervous system Gait ataxia Amblyopia Myoclonus Arrhythmia Visual loss Dystonia Blindness Tremor Optic atrophy Telangiectasia Vasculitis Abnormality of the optic disc Central scotoma Retinal vascular tortuosity Neuritis Leber optic atrophy Wolff-Parkinson-White syndrome Dyschromatopsia Increased reactive oxygen species production Abnormality of visual evoked potentials Optic neuropathy Incoordination Scotoma Blurred vision Constriction of peripheral visual field Postural tremor Abnormality of mitochondrial metabolism Abnormal electroretinogram Atrioventricular block Choroid plexus carcinoma Muscular hypotonia Thrombocytosis Edema Lethargy Abnormal cardiac septum morphology Pallor Cleft lip Glaucoma Abnormal heart morphology Thrombocytopenia Ventricular septal defect Nausea and vomiting Intrauterine growth retardation Cleft palate Strabismus Growth delay Neurocytoma Triangular nasal tip Hemoglobin H Narrow chest Cleft upper lip Flat forehead Abnormality of the hand Macrocytic anemia Acute myeloid leukemia Absent thumb Vertebral fusion Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Hypoplasia of the radius Neutropenia Abnormal dermatoglyphics Bone marrow hypocellularity Hydrops fetalis Short thumb Depressed nasal ridge Pancytopenia Premature birth Reduced alpha/beta synthesis ratio Hypochromic anemia Ptosis Hernia Pectus carinatum Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Patent ductus arteriosus Hypospadias Obesity Malar flattening Broad forehead Long philtrum Respiratory distress Anteverted nares Frontal bossing Wide nasal bridge Epicanthus Depressed nasal bridge Microtia Neurological speech impairment Asymmetry of the thorax Aplasia/Hypoplasia of the eyebrow Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Myelomeningocele Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Supernumerary nipple Congenital cataract Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Dental crowding Abnormality of the genital system Talipes Osteomyelitis leading to amputation due to slow healing fractures



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Abnormality of skin pigmentation, related diseases and genetic alterations Myopathy and Vomiting, related diseases and genetic alterations Low-set ears and Single transverse palmar crease, related diseases and genetic alterations Low-set ears and Finger syndactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more