Motor delay, and Hodgkin lymphoma

Diseases related with Motor delay and Hodgkin lymphoma

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

Top matches:

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

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

High 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

Other less relevant matches:

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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

Medium 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

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

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

Top 5 symptoms//phenotypes associated to Motor delay and Hodgkin lymphoma

Symptoms // Phenotype % cases
Lymphoma Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Hodgkin lymphoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intellectual disability Seizures Microcephaly Ataxia Hearing impairment Leukemia Short stature Recurrent infections Recurrent respiratory infections Lymphopenia Pneumonia Muscle weakness Cryptorchidism Pancytopenia Telangiectasia Growth delay Decreased antibody level in blood Hypopigmented skin patches Generalized hypotonia Carcinoma Scoliosis Postnatal growth retardation Chromosome breakage Truncal ataxia Diarrhea Fatigue Respiratory tract infection Acute myeloid leukemia Sinusitis Cafe-au-lait spot Decreased proportion of CD4-positive T cells Strabismus Myeloid leukemia Pulmonary fibrosis Peripheral neuropathy Skeletal muscle atrophy Premature graying of hair Specific learning disability Thrombocytopenia Bronchiectasis Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Hyperhidrosis Aplastic anemia Chronic obstructive pulmonary disease Intention tremor IgM deficiency Esophageal stricture Phimosis Abnormality of chromosome stability Abnormal cerebellum morphology Reticulated skin pigmentation Conjunctivitis Abnormality of the dentition Sepsis Intellectual disability, mild Oral leukoplakia Tremor Delayed speech and language development Cognitive impairment Cataract Pain Micrognathia Lymphoproliferative disorder B-cell lymphoma Combined immunodeficiency Recurrent lower respiratory tract infections Hypoplasia of the thymus Incoordination Chronic diarrhea Acute leukemia Blepharitis Papilloma Cerebellar hypoplasia Osteoporosis Nail dystrophy Squamous cell carcinoma Abnormality of skin pigmentation Gastrointestinal hemorrhage Cerebral calcification Mucosal telangiectasiae Fever Hyperpigmentation of the skin Hemolytic anemia Meningitis Bone marrow hypocellularity Leukopenia Alopecia Cellular immunodeficiency Diabetes mellitus Otitis media Abnormal intestine morphology Multiple cafe-au-lait spots Cellulitis Type II diabetes mellitus Epiphora Hand polydactyly Intracranial hemorrhage Lymphadenopathy Telangiectasia of the skin IgA deficiency Breast carcinoma Cirrhosis Hypertelorism Distal amyotrophy Hypopigmentation of the skin Protruding ear Intellectual disability, moderate Anxiety Myopia Neurological speech impairment Autism Gait ataxia Polyneuropathy Prominent nose Sleep apnea Distal muscle weakness Apnea Hyporeflexia Pes cavus Spinal muscular atrophy Skin rash Slurred speech Abnormality of the cardiovascular system Polycystic ovaries Finger syndactyly Pallor Myalgia Jaundice Pterygium of nails Anal mucosal leukoplakia Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Athetosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Hyperbilirubinemia Cerebral palsy Syndactyly Hemoglobinuria Malar flattening Short nose Cardiomyopathy Fava bean-induced hemolytic anemia Delayed skeletal maturation Kernicterus Clinodactyly of the 5th finger Unconjugated hyperbilirubinemia Nonspherocytic hemolytic anemia Severe short stature Back pain Reduced tendon reflexes Oculomotor apraxia Poikilocytosis Anisocytosis Polydactyly Reticulocytosis Erythema Prolonged neonatal jaundice Osteomyelitis Leukocytosis Lacrimal duct stenosis Congenital thrombocytopenia Keratoconjunctivitis Progressive spinal muscular atrophy Neonatal respiratory distress Elevated alpha-fetoprotein Myelodysplasia Pterygium Chronic hepatitis Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Dermal atrophy Non-Hodgkin lymphoma Anosmia Neoplasm of the breast Sparse eyelashes Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy Horseshoe kidney Sparse scalp hair Decreased fetal movement Oligohydramnios Decreased testicular size Gliosis IgE deficiency Abnormal spermatogenesis Chronic myelogenous leukemia Excessive wrinkled skin Hepatocellular carcinoma Testicular atrophy Ridged nail Infertility Glucose intolerance Premature loss of teeth Generalized hyperpigmentation Resting tremor Aplasia/Hypoplasia of the skin Abnormality of the immune system Prematurely aged appearance Hypopigmentation of hair Acute lymphoblastic leukemia Conjunctival telangiectasia Severe combined immunodeficiency Recurrent bronchitis Restrictive ventilatory defect Increased antibody level in blood Renal neoplasm Abnormality of the testis Spinocerebellar tract degeneration Absent Achilles reflex Chronic lymphatic leukemia Abnormality of coagulation Flared metaphysis Dolichocephaly Abnormal vertebral morphology Ichthyosis Purpura Keratitis Hyperostosis Inflammation of the large intestine Chronic otitis media Glomerulonephritis Rheumatoid arthritis Glomerulosclerosis Urticaria Sarcoma Chronic kidney disease Recurrent upper respiratory tract infections Vasculitis Chronic leukemia Skin ulcer Recurrent otitis media Absent microvilli on the surface of peripheral blood lymphocytes Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Specific anti-polysaccharide antibody deficiency Epistaxis Oral bleeding Eczema Nystagmus Sudden cardiac death Focal segmental glomerulosclerosis Petechiae Abnormal bleeding Large vessel vasculitis Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Reduced delayed hypersensitivity Abnormal eosinophil morphology Generalized lymphadenopathy Bloody diarrhea Spontaneous hematomas Melena Hematemesis Increased IgA level Interstitial pneumonitis Prolonged bleeding time Small vessel vasculitis Membranoproliferative glomerulonephritis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections Hematochezia Recurrent intrapulmonary hemorrhage Gingival bleeding Iron deficiency anemia Glomerulopathy Microcytic anemia Chest pain Spasticity Abnormality of the skin Azoospermia Chronic lung disease Abnormality of eye movement Hypoplastic pelvis Abnormality of movement Hypoplasia of the zygomatic bone IgG deficiency Unsteady gait High pitched voice Progressive cerebellar ataxia Reduced number of teeth Sacral dimple Chorea Abnormality of the liver Hepatitis Narrow face Apraxia Abnormality of the face Hypertrichosis Cutaneous photosensitivity Choreoathetosis Limb ataxia Abnormal platelet morphology Abnormality of the hair Recurrent pneumonia Delayed puberty Elevated hepatic transaminase Neutropenia Renal insufficiency Carious teeth Bruising susceptibility Cough Flexion contracture Autoimmunity Dysarthria Proteinuria Arthritis Gait disturbance Dyspnea Arrhythmia Splenomegaly Abnormality of the nose Cerebellar atrophy Facial telangiectasia in butterfly midface distribution Dystonia Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Myoclonus Difficulty walking Nephropathy Hyperactivity Small for gestational age Open mouth Short metatarsal Coarse hair Mutism Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Abnormal palate morphology Intellectual disability, progressive Finger clinodactyly Abnormal autonomic nervous system physiology Postnatal microcephaly Aganglionic megacolon Thick lower lip vermilion Clubbing Narrow forehead Cyanosis Convex nasal ridge Wide intermamillary distance Full cheeks Abdominal distention Sleep disturbance Single transverse palmar crease Tapered finger Small hand Thick vermilion border Thick eyebrow Self-injurious behavior Cupped ear Severe global developmental delay Abnormal pattern of respiration Low-set ears Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Thickened helices Overlapping toe Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Dysphasia Aphasia Supernumerary nipple Astigmatism Prominent nasal bridge Brachydactyly Hammertoe Hypertrophic nerve changes Ulnar claw Axonal regeneration Hypopnea Segmental peripheral demyelination/remyelination Demyelinating peripheral neuropathy Onion bulb formation Axonal loss Decreased number of peripheral myelinated nerve fibers Neurofibromas Decreased motor nerve conduction velocity Steppage gait Decreased nerve conduction velocity Abnormal nervous system electrophysiology Delayed gross motor development Foot dorsiflexor weakness Progressive muscle weakness Split hand Peripheral demyelination Delayed myelination Sensory neuropathy Distal sensory impairment Abnormality of the foot Limb muscle weakness Kyphoscoliosis Areflexia Myelin outfoldings Progressive distal muscular atrophy Short philtrum Clinodactyly Wide mouth Autistic behavior Abnormality of the pinna Aggressive behavior Deeply set eye Pes planus Coarse facial features Gastroesophageal reflux Mandibular prognathia Micropenis Upslanted palpebral fissure Constipation Encephalopathy Cold-induced muscle cramps Absent speech Intellectual disability, severe Hypoplasia of the corpus callosum Short neck Anteverted nares Talipes equinovarus Abnormality of the skeletal system Wide nasal bridge Depressed nasal bridge Feeding difficulties Muscular hypotonia Abnormal facial shape High palate Macrocephaly Muscular hypotonia of the trunk Ovarian carcinoma Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Enlarged cerebellum Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Cutis marmorata telangiectatica congenita Trichilemmoma Ovarian cyst Abnormal lung morphology Hepatosplenomegaly Cerebral cortical atrophy Hypospadias Hypertonia Respiratory distress Ventriculomegaly Optic atrophy Visual impairment Pulmonary hemorrhage Aseptic necrosis Interstitial pulmonary abnormality Portal hypertension Fine hair Dysplastic gangliocytoma of the cerebellum Nail dysplasia Dry skin Retinopathy Osteopenia Hypertension Recurrent sinopulmonary infections Attention deficit hyperactivity disorder Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Intestinal polyposis Astrocytoma Downslanted palpebral fissures Nausea and vomiting Cranial nerve paralysis Neoplasm of the skin Gynecomastia Exotropia Subcutaneous nodule Broad thumb Overgrowth Macroglossia Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Papule Hemangioma Abnormality of the kidney Proximal muscle weakness Hypothyroidism Narrow mouth Pectus excavatum Dilatation Headache Kyphosis Myopathy Atrial septal defect Hydrocephalus Frontal bossing Drooling Increased intracranial pressure Abnormality of the uterus Renal cell carcinoma Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Thyroiditis Melanoma Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Defective B cell differentiation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Peripheral neuropathy and Focal seizures, related diseases and genetic alterations Cataract and Leukoencephalopathy, related diseases and genetic alterations Generalized hypotonia and Retinopathy, related diseases and genetic alterations Fever and Midface retrusion, related diseases and genetic alterations Failure to thrive and Underdeveloped nasal alae, related diseases and genetic alterations Abnormality of the skeletal system and Thin skin, related diseases and genetic alterations