Intellectual disability, and Lymphoma

Diseases related with Intellectual disability and Lymphoma

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

Top matches:

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Low 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

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Other less relevant matches:

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Lymphoma

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Spasticity Muscular hypotonia Hearing impairment Immunodeficiency Micrognathia Short stature Long philtrum Severe short stature Cellulitis Generalized hypotonia Failure to thrive Lymphedema Subcutaneous nodule Specific learning disability Wide nose Protruding ear Glaucoma Epicanthus Blindness Wide nasal bridge Recurrent infections Upslanted palpebral fissure Erythema Telangiectasia Visual loss Chromosome breakage Cataract Anteverted nares Abnormality of chromosome stability Abnormal facial shape Cryptorchidism

Rare Symptoms - Less than 30% cases

Abnormal eyelid morphology Abnormal eyelash morphology Scaling skin Pain Anophthalmia Macrotia Muscle weakness Acute leukemia Severe combined immunodeficiency Underdeveloped supraorbital ridges Telangiectasia of the skin Combined immunodeficiency Gangrene Myelodysplasia Sensorineural hearing impairment Hodgkin lymphoma Cutaneous photosensitivity Type II diabetes mellitus Abnormal toenail morphology Retinal dysplasia Abnormality of the optic nerve Leukonychia Microphthalmia Abnormal nasolacrimal system morphology Erysipelas Scoliosis Venous thrombosis Panniculitis Retinal dystrophy Edema Atrial septal defect Hemolytic anemia Optic atrophy Myopia Ptosis Leukocytosis Rigidity Retinopathy Dry skin Thick vermilion border Pointed chin Retinal detachment Bronchiectasis Full cheeks Sloping forehead Status epilepticus Thickened skin Amblyopia Abnormality of retinal pigmentation Recurrent respiratory infections Skin ulcer Muscle stiffness Abnormality of the nervous system Chylothorax Chorioretinal dysplasia Autoimmune neutropenia Bilateral sensorineural hearing impairment Ataxia Visual impairment Delayed speech and language development Pneumonia Otitis media Intellectual disability, mild Short nose Sinusitis Lymphopenia Melanonychia Delayed skeletal maturation Acute myeloid leukemia Dolichocephaly Hypertonia Clinodactyly of the 5th finger Skin rash Malar flattening Nystagmus Abnormality of the skeletal system Growth delay Prominent nose Retinal calcification Cardiomyopathy Intrauterine growth retardation Neuroblastic tumors Subcutaneous hemorrhage Pineoblastoma Pinealoma Hamartomatous polyposis High pitched voice Diarrhea Neoplasm of the breast Reduced number of teeth Iris neovascularization Pineal cyst Ewing sarcoma Visceral angiomatosis Hypopigmented skin patches Abnormality of the dentition Abdominal wall muscle weakness Diabetes mellitus Decreased antibody level in blood Ichthyosis Infertility Hypertrichosis Finger syndactyly Postnatal growth retardation Polydactyly Hand polydactyly Hyperhidrosis Abnormality of the skin Abnormality of the face Cafe-au-lait spot Narrow face Abnormal large intestine morphology Syndactyly Azoospermia Uterine neoplasm Sacral dimple Squamous cell carcinoma Chronic obstructive pulmonary disease Intestinal polyposis Patent foramen ovale Congenital microcephaly Retinal fold Vitreoretinopathy Chorioretinal atrophy Cortical gyral simplification Agitation Flat occiput Bilateral ptosis Retinal thinning Deep philtrum Multiple lipomas Multiple cafe-au-lait spots Hamartoma Optic nerve hypoplasia Irregular hyperpigmentation Hashimoto thyroiditis Thick lower lip vermilion Prominent nasal tip Exudative vitreoretinopathy Pigmentary retinopathy Cutis marmorata Cachexia Delayed gross motor development Aortic aneurysm Narrow palate Tall stature Broad thumb Nevus Joint hyperflexibility Myopic astigmatism Neurological speech impairment Hypoglycemia Pectus excavatum Myopathy Frontal bossing Macrocephaly Skeletal muscle atrophy Chorioretinal lacunae Lipoma Overgrowth Thyroid carcinoma Abnormality of the nose Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Intracranial hemorrhage Depressed nasal bridge Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone IgG deficiency IgA deficiency Myeloid leukemia Pulmonary fibrosis Angina pectoris Facial telangiectasia in butterfly midface distribution Downslanted palpebral fissures Broad nasal tip Neonatal hypotonia Capillary hemangioma Microcornea Sleep disturbance Astigmatism Hypermetropia Corneal opacity Attention deficit hyperactivity disorder Aggressive behavior Thin upper lip vermilion Hypoplasia of the corpus callosum Mandibular prognathia Meningioma Arteriovenous malformation Neoplasm of the eye Reduced visual acuity Hyperactivity Prominent forehead Intellectual disability, severe Hyphema Pleural effusion Sebaceous gland carcinoma Recurrent opportunistic infections Recurrent urinary tract infections Recurrent bacterial infections Spastic tetraparesis Recurrent upper respiratory tract infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Pure red cell aplasia Abnormal T cell morphology Cerebral vasculitis Spastic tetraplegia Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Hepatomegaly Thrombocytopenia Brachycephaly Hypothyroidism Telecanthus Malabsorption Lymphadenopathy Thin vermilion border Hypoplasia of penis Pancytopenia Low anterior hairline Tetraparesis Tetraplegia Biparietal narrowing Anisocytosis Fever Fatigue Jaundice Myalgia Pallor Cirrhosis Abnormality of the cardiovascular system Meningitis Hyperbilirubinemia Back pain Osteomyelitis Prolonged neonatal jaundice Reticulocytosis Poikilocytosis Abnormal pyramidal sign Hemoglobinuria Nonspherocytic hemolytic anemia Unconjugated hyperbilirubinemia Kernicterus Fava bean-induced hemolytic anemia Hypospadias Megalocornea Abnormal eye morphology T-cell lymphoma/leukemia Motor delay Tremor Behavioral abnormality Splenomegaly Babinski sign Psoriasiform dermatitis Abnormality of bone marrow cell morphology Liposarcoma Astrocytoma Weight loss Proptosis Carcinoma Abnormality of skin pigmentation Postural instability Anorexia Increased intracranial pressure Sarcoma Neurofibromas Uveitis Osteosarcoma Anemia of inadequate production Acute monocytic leukemia Buphthalmos Vomiting Inflammatory abnormality of the eye Retinoblastoma Vitreous hemorrhage Ocular pain Anisocoria Leiomyosarcoma Soft tissue sarcoma Leukocoria Malar rash Glioblastoma multiforme Fibrosarcoma Burkitt lymphoma Vitritis Histiocytoma Headache Hydrocephalus Bird-like facies Eczema Large beaked nose Cognitive impairment High palate Dysarthria Brachydactyly Hyporeflexia Myoclonus Gastroesophageal reflux Conductive hearing impairment Respiratory tract infection Neutropenia Asthma Sensory impairment Inflammatory abnormality of the skin Cleft palate Vasculitis Narrow palpebral fissure Leukopenia Recurrent skin infections Glomerulonephritis Atopic dermatitis Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Cortical myoclonus Abnormality of the eye Abnormality of the hair Abnormality of vision Strabismus Neoplasm of the adrenal cortex


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