Lymphoma, and Microcornea

Diseases related with Lymphoma and Microcornea

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

Top matches:

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Medium match N SYNDROME

N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Other less relevant matches:

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

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.

CATARACT 23, MULTIPLE TYPES; CTRCT23 Is also known as cataract 23, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Nuclear cataract
  • Lamellar cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 23, MULTIPLE TYPES; CTRCT23

Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.

CATARACT 1, MULTIPLE TYPES; CTRCT1 Is also known as cataract 1, multiple types, with or without microcornea|czp1|czp|cae1|cataract, duffy-linked|cataract, zonular pulverulent, 1

Related symptoms:

  • Cataract
  • Microphthalmia
  • Congenital cataract
  • Microcornea
  • Posterior subcapsular cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 1, MULTIPLE TYPES; CTRCT1

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

COLOBOMATOUS MICROPHTHALMIA Is also known as mac|microphthalmia, colobomatous, isolated 1|microphthalmia-anophthalmia-coloboma syndrome|microphthalmia with colobomatous cyst

Related symptoms:

  • Microphthalmia
  • Coloboma
  • Microcornea
  • Anophthalmia
  • Increased intraocular pressure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA

Related symptoms:

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA OF OPTIC NERVE

Top 5 symptoms//phenotypes associated to Lymphoma and Microcornea

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Leukemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Glaucoma Global developmental delay Short stature Ptosis Micrognathia Sensorineural hearing impairment Corneal opacity Nuclear cataract Nystagmus Seizures Atrial septal defect Coloboma Anteverted nares Hypospadias Scoliosis Cryptorchidism Microcephaly Depressed nasal bridge Spasticity Retinal detachment

Rare Symptoms - Less than 30% cases

Neoplasm Anemia Vitreoretinopathy Exudative vitreoretinopathy Retinal fold Retinal dysplasia Abnormal eyelash morphology Flat occiput Anophthalmia Optic nerve hypoplasia Amblyopia Coarctation of aorta Duodenal atresia Megalocornea Finger syndactyly Decreased antibody level in blood Intestinal malrotation Spina bifida Iris coloboma Horseshoe kidney Hip dislocation Abnormal cardiac septum morphology Chromosome breakage Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormal heart morphology Thrombocytopenia Talipes equinovarus Ventricular septal defect Strabismus Bilateral sensorineural hearing impairment Visual impairment Optic atrophy Muscular hypotonia Prominent forehead Edema Attention deficit hyperactivity disorder Wide nasal bridge Downslanted palpebral fissures Epicanthus Intellectual disability, severe Abnormal facial shape Generalized hypotonia Thin upper lip vermilion Intellectual disability, mild Blindness Long philtrum Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Broad columella Esotropia Pulverulent cataract Mitral stenosis Ectopic anus Zonular cataract Eyelid coloboma Broad hallux phalanx Urethral stenosis Nasolacrimal duct obstruction Abnormality of the anus Congenital thrombocytopenia Bilateral camptodactyly Congenital cataract Arteria lusoria Internal hemorrhage Annular pancreas Toe clinodactyly Abnormality of the head Giant platelets Macular hypoplasia Posterior subcapsular cataract Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Chronic constipation Transposition of the great arteries Diastasis recti Multicystic kidney dysplasia Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Bone marrow hypocellularity Pyloric stenosis Aortic valve stenosis Leukodystrophy Short toe Sinusitis Short thumb Pachygyria Abnormal form of the vertebral bodies Increased intraocular pressure Hand polydactyly Missing ribs Partial agenesis of the corpus callosum Double outlet right ventricle Bipolar affective disorder Wheezing Abnormality of the curvature of the vertebral column Natal tooth Slender finger Atrioventricular canal defect Trigonocephaly Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hammertoe Heart murmur Chorioretinal coloboma Ectropion Nuclear pulverulent cataract Megakaryocyte dysplasia Motor delay Cleft palate Cavum septum pellucidum Lateral clavicle hook Buphthalmos Anterior synechiae of the anterior chamber Phocomelia Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Bilateral microphthalmos Cervical ribs Aplasia of the uterus Remnants of the hyaloid vascular system Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Band keratopathy Allergy Generalized tonic-clonic seizures with focal onset Aplasia/Hypoplasia of the ulna Aplastic anemia Amegakaryocytic thrombocytopenia Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Congenital blindness Tibial torsion Nevus flammeus of the forehead Pendular nystagmus Aplasia/hypoplasia of the humerus Uveitis Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Delayed CNS myelination Cardiorespiratory arrest Cow milk allergy Severe global developmental delay Broad thumb Cerebellar vermis hypoplasia Blue sclerae Ventricular hypertrophy Tetralogy of Fallot Focal-onset seizure Sepsis Abnormality of the kidney Short phalanx of finger Cleft lip Hepatosplenomegaly Brachycephaly Cerebellar hypoplasia Pneumonia Malar flattening Abnormality of the skeletal system Left ventricular hypertrophy Coxa valga Patellar dislocation Phthisis bulbi Carpal synostosis Shallow anterior chamber Nevus flammeus Absent radius Focal impaired awareness seizure Intracranial hemorrhage Leukocoria Posterior synechiae of the anterior chamber Hemangioma Persistent pupillary membrane Retinal nonattachment Hypoplasia of the radius Hyphema Genu varum Eosinophilia Adducted thumb Lamellar cataract Pancytopenia Intellectual disability, moderate Eczema Underdeveloped supraorbital ridges Prominent nasal tip Congenital microcephaly Chylothorax Leukonychia Abnormal toenail morphology Gangrene Cellulitis Erysipelas Chorioretinal atrophy Cortical gyral simplification Agitation Scaling skin Patent foramen ovale Bilateral ptosis Deep philtrum Abnormal nasolacrimal system morphology Panniculitis Pointed chin Cardiomyopathy Abnormality of the genital system Ambiguous genitalia Everted lower lip vermilion Nephropathy Hypertrophic cardiomyopathy Obesity Renal insufficiency T-cell lymphoma/leukemia Retinal thinning Abnormal eye morphology Abnormality of chromosome stability Abnormal eyelid morphology Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Venous thrombosis Muscle stiffness Nephroblastoma Mandibular prognathia Retinopathy Protruding ear Aggressive behavior Neonatal hypotonia Rigidity Macrotia Reduced visual acuity Astigmatism Hyperactivity Upslanted palpebral fissure Severe short stature Visual loss Hypertonia Hypoplasia of the corpus callosum Myopia Hypermetropia Dry skin Skin ulcer Pigmentary retinopathy Lymphedema Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Thick lower lip vermilion Status epilepticus Sloping forehead Overgrowth Wide nose Specific learning disability Full cheeks Broad nasal tip Sleep disturbance Thick vermilion border Retinal dystrophy Abnormality of the genitourinary system Aniridia Dehydration Hypoglycemia Postnatal growth retardation Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Telecanthus Hydronephrosis Pes planus Skin rash Retrognathia Osteopenia High forehead Hypothyroidism Hypogonadism Osteoporosis Recurrent respiratory infections Craniosynostosis Small for gestational age Inguinal hernia Bruising susceptibility Microdontia Otitis media Growth hormone deficiency Webbed neck Premature birth Postural instability Single transverse palmar crease Tachycardia Neurological speech impairment Anal atresia Smooth philtrum Talipes Facial asymmetry Narrow chest Toe syndactyly Dolichocephaly Constipation Patent ductus arteriosus Acute lymphoblastic leukemia Streak ovary Low-set ears Failure to thrive Hypertelorism Growth delay Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Aplasia/Hypoplasia of the iris Feeding difficulties Abnormal vagina morphology Peters anomaly Gonadoblastoma Abnormality of the uterus Hemihypertrophy Renal neoplasm Hearing abnormality Flexion contracture Brachydactyly Clinodactyly Short nose Pectus excavatum Hernia Abnormality of cardiovascular system morphology Recurrent infections Cerebral atrophy Immunodeficiency Syndactyly Behavioral abnormality Intrauterine growth retardation Congestive heart failure Abnormality of the dentition Hydrocephalus Short neck Ventriculomegaly Frontal bossing Macrocephaly Optic nerve coloboma


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