Lymphoma, and Premature birth

Diseases related with Lymphoma and Premature birth

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

Top matches:

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Other less relevant matches:

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

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

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

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME Is also known as infant ards|rds of prematurity|hyaline membrane disease|neonatal respiratory distress syndrome|hyaline membrane disease, formerly|infant respiratory distress syndrome

Related symptoms:

  • Respiratory distress
  • Edema
  • Premature birth
  • Tachypnea
  • Neonatal respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.

ICHTHYOSIS-PREMATURITY SYNDROME Is also known as congenital ichthyosis type 4|ips|ichthyosis congenita iv

Related symptoms:

  • Hyperkeratosis
  • Ichthyosis
  • Premature birth
  • Eosinophilia
  • Neonatal respiratory distress


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-PREMATURITY SYNDROME

Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

RETINOPATHY OF PREMATURITY Is also known as retrolental fibroplasia|rop

Related symptoms:

  • Blindness
  • Small for gestational age
  • Premature birth
  • Abnormality of the retinal vasculature
  • Vitreous hemorrhage


SOURCES: ORPHANET MENDELIAN

More info about RETINOPATHY OF PREMATURITY

Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of PregnancySee also ICP3 (OMIM ), caused by mutation in the ABCB4 gene (OMIM ).

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 Is also known as cholestasis, pregnancy-related, 1

Related symptoms:

  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus
  • Premature birth


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1

Top 5 symptoms//phenotypes associated to Lymphoma and Premature birth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Premature birth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Abnormal cardiac septum morphology Leukemia Seizures Growth delay Hypertelorism Osteopenia Muscular hypotonia Generalized hypotonia Global developmental delay Ventricular septal defect Ventriculomegaly Intrauterine growth retardation Short neck Abnormal heart morphology Coarctation of aorta Short stature Hydrocephalus Downslanted palpebral fissures Macrocephaly Feeding difficulties Cataract Edema Abnormality of cardiovascular system morphology Micrognathia Webbed neck Microcephaly Bone marrow hypocellularity High forehead Vomiting Abnormality of the kidney Abnormality of the dentition Scoliosis Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Myopia Hernia Cerebral atrophy Small for gestational age Microphthalmia Short nose Patent ductus arteriosus Behavioral abnormality Hypertonia Blindness Pectus excavatum Heart murmur Cardiomyopathy Long philtrum Growth hormone deficiency Anteverted nares High palate Hearing impairment Hypothyroidism Recurrent infections Immunodeficiency Cryptorchidism Low-set ears Brachydactyly Hypertension Aplasia/Hypoplasia of the eyebrow Epicanthus Talipes equinovarus Kyphosis Optic atrophy Frontal bossing Syndactyly Ectropion Clinodactyly of the 5th finger Inguinal hernia Bruising susceptibility Aortic valve stenosis Dolichocephaly Abnormal palate morphology Pulmonic stenosis Ichthyosis Long face Hypoplastic left heart Neurological speech impairment Open mouth Hemiparesis Cognitive impairment Intestinal malrotation Double outlet right ventricle Anemia Pruritus Scarring Abnormal eyelash morphology Hyperkeratosis Constipation Alopecia Finger syndactyly Prominent forehead Toe syndactyly Talipes Polyhydramnios Sparse hair EEG abnormality Hydronephrosis Telecanthus Low-set, posteriorly rotated ears Feeding difficulties in infancy Pachygyria Thin upper lip vermilion Ptosis Azoospermia Short thumb Bulbous nose Subvalvular aortic stenosis Thick upper lip vermilion Neutropenia Neonatal respiratory distress Multiple cafe-au-lait spots Microdontia Pancytopenia Abnormal facial shape Melanocytic nevus Cleft upper lip Narrow chest Fine hair Retrognathia Flexion contracture Cleft palate Abnormality of skin pigmentation Abnormal form of the vertebral bodies Hip dislocation Tachypnea Astigmatism Wide nasal bridge Multiple lentigines Cutis marmorata Small nail Nephrocalcinosis Astrocytosis Central hypotonia Multifocal epileptiform discharges Pulmonary artery stenosis Pulmonary arterial hypertension Minimal subcutaneous fat Tetralogy of Fallot Increased body weight Nail dysplasia Narrow face Esotropia Gastrointestinal hemorrhage Ascites Thick lower lip vermilion Short distal phalanx of finger Oligodactyly Encephalocele Split hand Meningitis Shock Portal hypertension Cortical dysplasia Abnormality of the metacarpal bones Aplasia/Hypoplasia of the skin Bicuspid aortic valve Drooling Leukopenia Cutaneous finger syndactyly Supernumerary nipple Hyperplasia of midface Aplasia cutis congenita Focal impaired awareness seizure Diabetes insipidus Decreased muscle mass Telangiectasia Megalencephaly Facial hypotonia Large forehead Tented upper lip vermilion Anemia of inadequate production Polymicrogyria Bifid thoracic vertebrae Abnormality of the skeletal system Macrocytic anemia Thrombocytosis Hypoplastic ilia Calvarial skull defect Osteosarcoma Hypoplastic sacral vertebrae 11 pairs of ribs Hypoplastic coccygeal vertebrae Transient erythroblastopenia Elevated red cell adenosine deaminase activity Myeloid leukemia Aplastic anemia Hypoplastic anemia Increased mean corpuscular volume Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Acute myeloid leukemia Absent thumb Cirrhosis Cerebellar hypoplasia Hypovolemic shock Fatigue Glaucoma Reticulocytopenia Prominent nasal bridge Cleft lip Pallor Lethargy Nausea and vomiting Nausea Depressed nasal ridge Vertebral fusion Hydrops fetalis Abnormal dermatoglyphics Hypoplasia of the radius Abnormality of the hand Dilatation Myelodysplasia Triphalangeal thumb Delayed cranial suture closure Congenital glaucoma Hypoplasia of the corpus callosum Colon cancer Vitreous hemorrhage Abnormal liver function tests during pregnancy Arteriovenous malformation Natal tooth Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Bipolar affective disorder Wheezing Transposition of the great arteries Slender finger Labial hypoplasia Partial agenesis of the corpus callosum Atrioventricular canal defect Flat occiput Hammertoe Chorioretinal coloboma Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Aplasia/Hypoplasia of the earlobes Abnormal thrombocyte morphology Leukodystrophy Bilateral camptodactyly Abnormality of the retinal vasculature Desquamation of skin soon after birth Follicular hyperkeratosis Congenital ichthyosiform erythroderma Eosinophilia Disseminated intravascular coagulation Pulmonary edema Atelectasis Respiratory distress Abnormality of the curvature of the vertebral column Abnormal macular morphology Megakaryocyte dysplasia Congenital thrombocytopenia Arteria lusoria Broad columella Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Spina bifida Short toe Abnormality of the lower limb Absent toe Recurrent respiratory infections Agenesis of corpus callosum Clinodactyly Hypospadias Intellectual disability, mild Spasticity Sensorineural hearing impairment Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Abnormal pulmonary valve morphology Hypogonadism Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Osteoporosis Pes planus Sinusitis Iris coloboma Amblyopia Eczema Dehydration Retinal arteriolar tortuosity Otitis media Decreased antibody level in blood Postural instability Tractional retinal detachment Jaundice Elevated hepatic transaminase Abnormality of the liver Microcornea Single transverse palmar crease Tachycardia Hypoglycemia Cholestasis Intrahepatic cholestasis Fetal distress Anal atresia Smooth philtrum Facial asymmetry Skin rash Attention deficit hyperactivity disorder Coloboma Craniosynostosis Postnatal growth retardation Camptodactyly Intellectual disability, moderate Focal-onset seizure Status epilepticus Abnormality of the ulna Highly arched eyebrow Nephrosclerosis Depressivity Malar flattening Splenomegaly Intellectual disability, severe Dysphagia Dysarthria Hepatomegaly Delayed speech and language development Neoplasm Nystagmus Ataxia Lateral displacement of the femoral head Anterior pituitary dysgenesis Delayed skeletal maturation Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Encephalopathy Posteriorly rotated ears Precocious atherosclerosis Nail dystrophy High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Falls Joint hypermobility Peripheral axonal neuropathy Dry skin Genu valgum Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Pectus carinatum Hyperhidrosis Erythema Respiratory tract infection Irritability Abnormality of the eye Hypertrophic cardiomyopathy Aggressive behavior Umbilical hernia Coarse facial features Macrotia Gastroesophageal reflux Proptosis Autism Cerebral cortical atrophy Dentinogenesis imperfecta Cerebral ischemia Palmoplantar keratoderma Platyspondyly Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Waddling gait Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Stage 5 chronic kidney disease Malabsorption Corneal opacity Abnormal lung morphology Stroke Autoimmunity Hyperlordosis Developmental regression Proteinuria Dementia Pneumonia Headache Renal insufficiency Diarrhea Cerebellar atrophy Fever Motor delay Intellectual disability, profound Heterotopia Villous atrophy Emphysema Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Abnormality of epiphysis morphology Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Lymphopenia Sleep disturbance Abdominal distention Inability to walk Delayed CNS myelination Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Abnormality of the testis Sparse or absent eyelashes Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Woolly hair Short attention span Abnormality of the gastrointestinal tract Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Alopecia of scalp Atopic dermatitis Cavernous hemangioma Increased nuchal translucency Underdeveloped supraorbital ridges Puberty and gonadal disorders Severe global developmental delay Wide mouth Joint laxity Difficulty walking Absent speech Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormal location of ears Endocarditis Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Poor appetite Anal stenosis Abnormal bleeding Lymphedema Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Cafe-au-lait spot Optic nerve hypoplasia Thickened skin Decreased body weight Inflammatory abnormality of the skin Myocardial infarction Low posterior hairline Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Vesicoureteral reflux Nevus Full cheeks Delayed gross motor development Palmoplantar hyperkeratosis Submucous cleft hard palate Absent eyebrow Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Hydroureter Malnutrition Open bite Large for gestational age Obsessive-compulsive behavior Abnormality of vision Chronic otitis media Cubitus valgus Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Increased serum bile acid concentration during pregnancy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Umbilical hernia, related diseases and genetic alterations Dysarthria and Limb muscle weakness, related diseases and genetic alterations