Lymphoma, and Aortic valve stenosis

Diseases related with Lymphoma and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Lymphoma and Aortic valve stenosis that can help you solving undiagnosed cases.

Top matches:

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Other less relevant matches:

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Aortic valve stenosis

Symptoms // Phenotype % cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and Aortic valve stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Leukemia

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of cardiovascular system morphology Seizures High forehead Cryptorchidism Microcephaly Ventriculomegaly Feeding difficulties Feeding difficulties in infancy Ventricular septal defect Intrauterine growth retardation Cataract B-cell lymphoma Pulmonic stenosis Downslanted palpebral fissures Webbed neck Postnatal growth retardation Low-set, posteriorly rotated ears Cognitive impairment Depressed nasal bridge Hypertension Thrombocytopenia Abnormal heart morphology Acute lymphoblastic leukemia Talipes equinovarus Patent ductus arteriosus Short nose Hearing impairment Hypertelorism Clinodactyly Ptosis Low-set ears Micrognathia Motor delay Myopia Abnormality of the skeletal system Growth hormone deficiency Short neck Scoliosis Bicuspid aortic valve Microphthalmia Coarctation of aorta Failure to thrive in infancy Bilateral ptosis Syndactyly Recurrent respiratory infections Prominent fingertip pads Osteopenia Brachydactyly Intellectual disability, mild Chylothorax Hypogonadism Neoplasm Atrioventricular canal defect Nystagmus Cafe-au-lait spot Pectus excavatum Esotropia Prominent forehead Polyhydramnios Triangular face Hepatosplenomegaly Bruising susceptibility Sparse hair Immunodeficiency Frontal bossing Ascites Clinodactyly of the 5th finger High palate Long philtrum Dilatation Dolichocephaly Thin upper lip vermilion Broad forehead Thick vermilion border Low posterior hairline Anteverted nares Edema Pachygyria Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Trigonocephaly Hypothyroidism Small for gestational age Craniosynostosis Premature birth Decreased muscle mass Gastrointestinal hemorrhage Cubitus valgus Abnormality of the thorax Pleural effusion Abnormal pulmonary valve morphology Poor suck Weight loss Hypogonadotrophic hypogonadism Amblyopia Tetralogy of Fallot Ectropion Lymphedema Retrognathia Attention deficit hyperactivity disorder Mitral regurgitation Otitis media Telecanthus Hip dysplasia Wide intermamillary distance Duodenal atresia Polymicrogyria Abnormality of the spleen Sepsis Respiratory tract infection Cerebellar hypoplasia Double outlet right ventricle Midface retrusion Abnormal cardiac septum morphology Hydrocephalus Hypoplasia of the corpus callosum Agenesis of corpus callosum Posteriorly rotated ears Intellectual disability, severe Hyperactivity Cleft palate Central hypotonia Narrow forehead Finger syndactyly Toe syndactyly Abnormality of the upper limb Reduced factor XII activity Multiple lentigines Apnea Sinusitis Talipes Pulmonary lymphangiectasia Clitoral hypoplasia Micropenis Coarse facial features Abnormal bleeding Spontaneous abortion Hypoplastic left heart Optic atrophy Macrocephaly Iris coloboma Delayed speech and language development Sleep apnea Highly arched eyebrow Behavioral abnormality Recurrent viral infections Infantile muscular hypotonia Unilateral ptosis Verrucae U-Shaped upper lip vermilion Delayed skeletal maturation Pulmonary insufficiency Constipation Osteoporosis Recurrent fungal infections Short palpebral fissure Hypoglycemia Wide nasal bridge Flexion contracture Abnormality of the sternum Hepatomegaly Chorioretinal coloboma Overfolded helix Wide nose Abnormality of the dentition Hydronephrosis Congestive heart failure Recurrent infections Neutropenia Joint hypermobility Holoprosencephaly Inflammatory abnormality of the skin Camptodactyly Hypermetropia Pectus carinatum Abnormality of the pinna Lymphopenia Recurrent bacterial infections Delayed puberty Combined immunodeficiency Smooth philtrum Multicystic kidney dysplasia Myopathy Splenomegaly Coloboma Cleft upper lip Autoimmune hemolytic anemia Inguinal hernia Neurological speech impairment Gastroesophageal reflux Pulmonary artery stenosis Decreased fetal movement Diarrhea Pneumonia Autoimmunity Platyspondyly Autoimmune thrombocytopenia Asthma IgA deficiency Decrease in T cell count Increased IgE level Cellular immunodeficiency IgM deficiency Allergy Recurrent lower respiratory tract infections Abnormality of lateral ventricle Severe combined immunodeficiency Malnutrition Hepatitis Abnormality of pelvic girdle bone morphology Recurrent upper respiratory tract infections Eosinophilia Leukoencephalopathy Purpura Recurrent pneumonia Chronic diarrhea Recurrent otitis media Abnormal ventricular septum morphology Precocious puberty Abnormal aortic valve morphology Polyphagia Hypoventilation Hypopigmentation of hair Pulmonary embolism Cutaneous photosensitivity Striae distensae Impaired pain sensation Primary amenorrhea Clumsiness Myeloid leukemia Insulin resistance Narrow nasal bridge Bradycardia Increased body weight Narrow palpebral fissure Abnormality of lipid metabolism Scrotal hypoplasia External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Nasal speech Radial deviation of finger Hyperinsulinemia Iris hypopigmentation Overweight Heat intolerance Central adrenal insufficiency Absent eyebrow Hyperextensible skin Optic nerve hypoplasia Congenital cataract Hyperhidrosis Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Type II diabetes mellitus Hypoplastic labia minora Temperature instability Oligomenorrhea Triangular mouth Erysipelas Frontal upsweep of hair Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Psychosis Chromosome breakage Hypoplasia of the fovea Acrocyanosis Disseminated intravascular coagulation Heart murmur B lymphocytopenia Toe clinodactyly Blepharophimosis Abnormality of the eye Deeply set eye Glaucoma Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Giant platelets Muscular dystrophy Macular hypoplasia Central hypothyroidism Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Corneal opacity Abnormality of skin pigmentation Eyelid coloboma Aplasia/Hypoplasia of the cerebellum Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Colon cancer Nephroblastoma Long face Myelodysplasia Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Microretrognathia Osteolysis Finger clinodactyly Rhizomelia Depressed nasal ridge Ambiguous genitalia Sloping forehead Dandy-Walker malformation Bulbous nose Ectopic anus Chronic constipation Diffuse mesangial sclerosis Cerebral atrophy Microcornea Single transverse palmar crease Tachycardia Anal atresia Facial asymmetry Narrow chest Hip dislocation Skin rash Intellectual disability, moderate Pes planus Hypospadias Hernia Spasticity Intestinal malrotation Absent specific antibody response Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Lack of T cell function Severe B lymphocytopenia Abnormality of humoral immunity Absent tonsils Absence of lymph node germinal center Immunoglobulin IgG2 deficiency Recurrent opportunistic infections Cortical sclerosis Aplasia of the thymus Anterior rib cupping Postural instability Decreased antibody level in blood Retinal dysplasia Pyloric stenosis Diastasis recti Missing ribs Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Hand polydactyly Schizophrenia Microdontia Tachypnea Abnormal palate morphology Azoospermia Horseshoe kidney Bone marrow hypocellularity Spina bifida Leukodystrophy Short toe Short thumb Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Oligohydramnios Abnormality of digit Abnormality of the cardiovascular system Hypertonia Split hand Hemiparesis Small nail Pulmonary arterial hypertension Nail dysplasia Short distal phalanx of finger Cirrhosis Prominent nasal bridge Abnormality of the kidney EEG abnormality Alopecia Abnormality of the subarachnoid space Telangiectasia Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Monocytosis Broad toe Hypochromic microcytic anemia Short attention span Hydrocele testis Encephalocele Meningitis Abnormal eyebrow morphology Pulmonary artery atresia Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Hypoplastic fingernail Leukopenia Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Facial hypotonia Neurodevelopmental delay Imperforate hymen Bifid uvula Tracheoesophageal fistula Redundant skin Abnormality of the outer ear Lissencephaly Pointed chin Hoarse voice Low anterior hairline Postnatal microcephaly Heterotopia Hypertrichosis High myopia Everted lower lip vermilion Protruding tongue Oral cleft Arthrogryposis multiplex congenita Microtia Wide mouth Joint stiffness Cleft lip Conductive hearing impairment Mandibular prognathia Cerebral cortical atrophy Brachycephaly Abnormality of metabolism/homeostasis Dystonia Long palpebral fissure Esophageal atresia Proximal placement of thumb Abnormality of the foot Cholelithiasis Deep philtrum Torticollis Vasculitis Bilateral single transverse palmar creases Hydrops fetalis Hyperpigmentation of the skin Fine hair Epistaxis Cyanosis Falls Astigmatism Joint laxity Inverted nipples Macrotia Cardiomyopathy Respiratory distress Gait disturbance Small posterior fossa Duplication of phalanx of hallux Small thenar eminence Facial edema Congenital ptosis Retinal coloboma Widow's peak Depressed nasal tip Periventricular cysts Acrania Amenorrhea Abnormal location of ears Pain Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Puberty and gonadal disorders Vomiting Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Reduced factor XI activity Abnormal platelet function Reduced factor VIII activity Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Fever Kyphosis Abnormal hair quantity Infertility Specific learning disability Febrile seizures Full cheeks Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Small hand Downturned corners of mouth Short palm Arachnodactyly Genu valgum Obesity Carious teeth Pruritus Stroke Abnormality of the nervous system Neonatal hypotonia Photophobia Narrow mouth Autism Respiratory failure Diabetes mellitus Upslanted palpebral fissure Hyporeflexia Synovitis Enlarged thorax Aplasia cutis congenita over posterior parietal area Arrhythmia Scapular winging Decreased body weight Abnormality of the genital system Thick lower lip vermilion Mitral valve prolapse Dental malocclusion High, narrow palate Joint hyperflexibility Hypertrophic cardiomyopathy Kyphoscoliosis Proptosis Dysphagia Arnold-Chiari malformation Dysarthria Muscle weakness Lymphoproliferative disorder Chronic mucocutaneous candidiasis Right ventricular hypertrophy Increased antibody level in blood Patent foramen ovale Ventricular hypertrophy Hemolytic anemia Lymphadenopathy Anemia Aplasia cutis congenita on trunk or limbs Abnormal dermatoglyphics Coarse hair Abnormality of the pulmonary artery Premature skin wrinkling Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis High anterior hairline Acute leukemia Abnormality of the urinary system Thickened nuchal skin fold Abnormality of the mouth Aortic root aneurysm Thoracic scoliosis Curly hair Male infertility Cystic hygroma Prolonged bleeding time Abnormality of coagulation Myopathic facies Melanocytic nevus Radioulnar synostosis Vaginal neoplasm


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