Cognitive impairment, and Hodgkin lymphoma

Diseases related with Cognitive impairment and Hodgkin lymphoma

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


Top matches:

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Low match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS 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

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hodgkin lymphoma

Symptoms // Phenotype % cases
Lymphoma Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency

Common Symptoms - More than 50% cases


Anemia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Global developmental delay Leukemia Short stature Strabismus Generalized hypotonia Peripheral neuropathy Skeletal muscle atrophy Hepatomegaly Splenomegaly Lymphopenia Decreased antibody level in blood Cellular immunodeficiency Bronchiectasis Cranial nerve paralysis Pneumonia Muscle weakness Multiple cafe-au-lait spots Microcephaly Tremor Hypopigmentation of the skin Neutropenia Anxiety Small hand Recurrent respiratory infections Myoclonus Carcinoma Respiratory insufficiency Wide nasal bridge Abnormality of movement Polyneuropathy Growth delay Cafe-au-lait spot Diarrhea Myopia Motor delay High palate Abnormality of the skeletal system Gastrointestinal hemorrhage Vasculitis Dilatation Pancytopenia Abnormal facial shape B-cell lymphoma Hyporeflexia Thrombocytopenia Lymphadenopathy Fatigue Fever Non-Hodgkin lymphoma

Rare Symptoms - Less than 30% cases


Hypopigmented skin patches Postnatal growth retardation Neoplasm of the skin Joint hypermobility Intellectual disability, moderate Spinocerebellar tract degeneration Narrow mouth Autism Wide intermamillary distance Pectus excavatum Headache Abnormality of chromosome stability Finger clinodactyly Atrial septal defect Leukopenia Brachydactyly Melanocytic nevus Delayed speech and language development Epistaxis Low-set ears Pain Micrognathia Hypertelorism Decreased proportion of CD4-positive T cells Gingival bleeding Mucosal telangiectasiae Incoordination Accelerated skeletal maturation Cutis marmorata Peripheral demyelination Fair hair Normocytic anemia Hypersplenism Impaired lymphocyte transformation with phytohemagglutinin Blue sclerae Convex nasal ridge Areflexia Severe combined immunodeficiency Pes cavus Weight loss Abnormality of the nervous system Paresthesia Inability to walk Sensory neuropathy Short palm Deeply set eye Clinodactyly Muscular hypotonia Abnormal palate morphology Visual impairment Depressed nasal bridge Gastroesophageal reflux Upslanted palpebral fissure Anteverted nares Malabsorption Hypoplasia of the corpus callosum Short neck Delayed skeletal maturation Foot dorsiflexor weakness Constipation Severe short stature Lymphoproliferative disorder Aganglionic megacolon Intention tremor Telangiectasia Respiratory tract infection Gait disturbance Truncal ataxia Dysarthria Burkitt lymphoma Neurological speech impairment Reduced tendon reflexes Hepatosplenomegaly Resting tremor Diabetes mellitus Combined immunodeficiency Abnormal cerebellum morphology Difficulty walking Aplastic anemia Gait ataxia Nystagmus Falls Type II diabetes mellitus Breast carcinoma Memory impairment Hypopigmentation of hair Cerebellar atrophy Self-injurious behavior Clubbing Cupped ear Overlapping toe Supernumerary nipple Mutism Short metatarsal Coarse hair Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Intellectual disability, progressive Hepatic failure Abnormal autonomic nervous system physiology Postnatal microcephaly Open mouth Thick lower lip vermilion Narrow forehead Aphasia Hepatocellular carcinoma Dysphasia Failure of eruption of permanent teeth Inflammatory abnormality of the skin Eczema Sensory impairment Asthma Hemolytic anemia Erythema Conductive hearing impairment Sensorineural hearing impairment Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Small cerebral cortex Hyperventilation Square face Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Cyanosis Acrocyanosis Hiatus hernia Esophagitis Sleep disturbance Specific learning disability Back pain Brachial plexus neuropathy Myelin tomacula Segmental peripheral demyelination/remyelination Vocal cord paresis Abnormal myelination Low back pain Constrictive median neuropathy Vocal cord paralysis Axonal loss Axonal degeneration Decreased motor nerve conduction velocity Hammertoe Abnormality of the voice Agammaglobulinemia Cryptorchidism Hoarse voice Tetraparesis Hypotelorism Generalized muscle weakness Muscle cramps Immune dysregulation Recurrent pharyngitis Lymphocytosis Confusion Paralysis Histiocytosis Hepatic encephalopathy Granulomatosis IgG deficiency Feeding difficulties Prominent nose Abnormality of the pinna Full cheeks Abdominal distention Single transverse palmar crease Tapered finger Thick vermilion border Thick eyebrow Astigmatism Severe global developmental delay Prominent nasal bridge Short philtrum Wide mouth Autistic behavior Protruding ear Hemiparesis Talipes equinovarus Apnea Aggressive behavior Meningitis Pes planus Coarse facial features Bone marrow hypocellularity Mandibular prognathia Micropenis Encephalitis Sarcoma Encephalopathy Absent speech Intellectual disability, severe Increased antibody level in blood Narrow palpebral fissure Membranoproliferative glomerulonephritis Recurrent skin infections Generalized hypopigmentation of hair Thin vermilion border Smooth philtrum Synophrys Small for gestational age Muscular hypotonia of the trunk Thin upper lip vermilion Retrognathia Obesity Malar flattening Long philtrum Hypertonia Ventricular septal defect Intrauterine growth retardation Recurrent systemic pyogenic infections Everted lower lip vermilion Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Progressive peripheral neuropathy Hemophagocytosis White hair Generalized hypopigmentation Short distal phalanx of finger Highly arched eyebrow Gingivitis Delayed cranial suture closure Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Small face Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Truncal obesity High pitched voice Short foot Agitation Radial deviation of finger Lipodystrophy Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Decreased body weight Sparse scalp hair Epidermal acanthosis Webbed neck Broad nasal tip Triangular face Delayed eruption of teeth Periodontitis Iris hypopigmentation Glomerulonephritis Anorexia Abnormality of neutrophils Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Hypercoagulability Edema of the lower limbs Raynaud phenomenon Pulmonary infiltrates Respiratory failure Elevated erythrocyte sedimentation rate Pleural effusion Urticaria Purpura Migraine Multifocal epileptiform discharges Vertigo Stroke Autoimmunity Pallor Proptosis Visual loss Renal insufficiency Congestive heart failure Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Increased IgM level Allergic rhinitis Atopic dermatitis Retinal hemorrhage Monoclonal immunoglobulin M proteinemia Generalized hyperpigmentation Parkinsonism Sensory axonal neuropathy Cerebral hemorrhage Albinism Decreased nerve conduction velocity Abnormality of vision Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Bradykinesia Brain atrophy Abnormal bleeding Cryoglobulinemia Neurodegeneration Bruising susceptibility Peripheral axonal neuropathy Paraplegia Spastic paraplegia Developmental regression Abnormality of the eye Mental deterioration Rigidity Photophobia Jaundice Reduced visual acuity Edema Polyclonal elevation of IgM Chorioretinitis Metaphyseal dysostosis Dysgammaglobulinemia Macule Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Chorea Abnormality of the vasculature Hepatitis Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Apraxia Palmoplantar hyperkeratosis Goiter Melanoma Increased intracranial pressure Hemangioma Drooling Choreoathetosis Gynecomastia Lipoma Papilledema Chronic diarrhea Papilloma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Enlarged polycystic ovaries Prolactin excess Cavernous hemangioma Long penis Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Exotropia Subcutaneous nodule Endometrial carcinoma Abnormal spermatogenesis Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Telangiectasia of the skin Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Abnormality of the immune system Elevated alpha-fetoprotein Neoplasm of the breast Premature graying of hair Chronic myelogenous leukemia Conjunctival telangiectasia Myeloid leukemia Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Prematurely aged appearance IgA deficiency Abnormality of the testis Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Aplasia/Hypoplasia of the skin Glucose intolerance Broad thumb Abnormality of the hair Overgrowth Macroglossia Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Nausea and vomiting Papule Abnormality of the kidney Limb ataxia Proximal muscle weakness Hypothyroidism Sinusitis Abnormal vertebral morphology Kyphosis Athetosis Intellectual disability, mild Recurrent pneumonia Myopathy Oculomotor apraxia Hydrocephalus Frontal bossing Downslanted palpebral fissures Macrocephaly Cerebral palsy Slurred speech Polycystic ovaries Spinal muscular atrophy Cataract Follicular thyroid carcinoma Colorectal polyposis Pulmonary lymphoma High hypermetropia Pharyngitis Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia Abnormality of the hip bone Generalized joint laxity Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Tracheal stenosis Abnormality of the pancreas Reduced natural killer cell activity Hypoplastic anemia Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Pure red cell aplasia Acute lymphoblastic leukemia Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Abnormally ossified vertebrae Aplasia/Hypoplasia of the abdominal wall musculature Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hepatic necrosis Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Sacral dimple Fulminant hepatitis Progressive macrocephaly Progressive cerebellar ataxia Brachycephaly Prominent forehead Alopecia Elevated hepatic transaminase Cardiomyopathy Abnormality of the liver Distal muscle weakness Delayed puberty Abnormality of eye movement Epicanthus Hypertension Unsteady gait Distal amyotrophy Lobular carcinoma in situ Skeletal dysplasia Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Macrotia EEG abnormality Sparse eyelashes Lumbar hyperlordosis Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Spasticity Abnormality of the ribs Joint laxity Flexion contracture Postural instability Dystonia Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Abnormal cardiac septum morphology Sparse hair Hyperlordosis Low-set, posteriorly rotated ears Increased serum insulin-like growth factor 1



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