Anemia, and Encephalitis

Diseases related with Anemia and Encephalitis

In the following list you will find some of the most common rare diseases related to Anemia and Encephalitis 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 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

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Other less relevant matches:

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


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

Low match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

Top 5 symptoms//phenotypes associated to Anemia and Encephalitis

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Encephalitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Meningitis Pneumonia Autoimmunity Short stature Diarrhea Failure to thrive Sepsis Hemolytic anemia Neoplasm Cellular immunodeficiency Immune dysregulation Hepatomegaly Splenomegaly Hepatosplenomegaly Lymphadenopathy Hypothyroidism Lymphoma Lymphopenia Recurrent bacterial infections Abnormal lung morphology Neutropenia Hepatitis Tetraplegia Dilatation Carcinoma Combined immunodeficiency Ataxia Pancytopenia Decreased antibody level in blood Intellectual disability Agammaglobulinemia Purpura

Rare Symptoms - Less than 30% cases


Hemophagocytosis Autoimmune thrombocytopenia Increased total bilirubin Otitis media CSF pleocytosis Recurrent otitis media Chronic diarrhea Hypofibrinogenemia Cognitive impairment Weight loss Encephalopathy Leukoencephalopathy Arthritis Villous atrophy Decrease in T cell count Osteopenia Recurrent respiratory infections Congestive heart failure Growth delay Skin ulcer Gliosis Hyperlordosis Hypermelanotic macule Skin rash Generalized edema Muscular hypotonia Platyspondyly Malabsorption Lumbar hyperlordosis Dementia Nephritis Rheumatoid arthritis Prolonged prothrombin time Abnormality of the liver Hypoproteinemia B-cell lymphoma Generalized hypotonia Recurrent urinary tract infections Sensorineural hearing impairment Dysgammaglobulinemia Increased IgM level Myopia Histiocytosis IgG deficiency Hypertonia Increased antibody level in blood Abnormality of the dentition Bone marrow hypocellularity Bronchiectasis Depressivity Hepatic failure Abnormality of the kidney Vomiting Autoimmune hemolytic anemia Headache Increased CSF protein Leukopenia Hypertriglyceridemia Coma Hypoalbuminemia Hemiplegia Irritability Hyponatremia Increased intracranial pressure Increased serum ferritin Elevated hepatic transaminase Jaundice Abnormality of the tonsils Cellulitis Bronchitis Glossoptosis Hypertension Cor pulmonale Myelopathy Abnormality of the lymphatic system Thymoma Pyoderma Recurrent cutaneous abscess formation Septic arthritis Motor delay Epididymitis Enteroviral hepatitis Volvulus Depressed nasal bridge Spastic paraplegia Joint stiffness Abnormal facial shape Lymph node hypoplasia Scoliosis Feeding difficulties in infancy Dysphasia Telecanthus Enteroviral dermatomyositis syndrome Prostatitis Hypopigmented skin patches Osteomyelitis Hypoplasia of penis U-Shaped upper lip vermilion Abnormality of fontanelles Abnormality of the face Abnormality of the male genitalia Hearing impairment Delayed speech and language development Profound global developmental delay Fatigue Myopathy Alopecia Aganglionic megacolon Depressed nasal ridge Rod-cone dystrophy Thick lower lip vermilion Retinopathy Chronic otitis media Abnormality of movement Recurrent skin infections Abnormal hemoglobin Conjunctivitis Hypocalcemia Recurrent pneumonia Nausea and vomiting Flat face Ambiguous genitalia Self-injurious behavior Tented upper lip vermilion Male pseudohermaphroditism Macroglossia Sinusitis Telangiectasia Everted lower lip vermilion Opacification of the corneal stroma Intrauterine growth retardation Disproportionate short-trunk short stature Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Lymphoproliferative disorder Ovoid vertebral bodies Mucopolysacchariduria Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea High pitched voice Hypoplasia of the capital femoral epiphysis Multiple lentigines Focal segmental glomerulosclerosis Lateral displacement of the femoral head Adenoma sebaceum Papilloma Basal cell carcinoma Neoplasm of the skin Subcutaneous nodule Abnormality of the skin Papule Hyperkeratosis Nephrosclerosis Steroid-resistant nephrotic syndrome Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Emphysema Spondyloepiphyseal dysplasia Short neck Corneal opacity Abnormal cerebellum morphology Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Hip dislocation Stroke Migraine Scarring Developmental regression Proteinuria Thin upper lip vermilion Renal insufficiency Kyphosis Cerebellar atrophy Cardiomyopathy Brain atrophy Premature birth Melanocytic nevus Atherosclerosis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Gastroesophageal reflux Waddling gait Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Hydronephrosis Respiratory tract infection Autism Impaired memory B cell generation Hyperbilirubinemia Aspiration Peripheral demyelination Confusion Leukemia Abnormality of the nervous system IgE deficiency Albinism Opportunistic infection Agranulocytosis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Eosinophilia Abnormality of the coagulation cascade Chronic hepatitis T-cell lymphoma Diabetes mellitus Delayed skeletal maturation Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis Increased VLDL cholesterol concentration Granulocytopenia Episodic fever Partial albinism Increased LDL cholesterol concentration Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Acute leukemia Pulmonary infiltrates Severe combined immunodeficiency Sclerosing cholangitis IgM deficiency Eczema Recurrent pharyngitis Hepatic necrosis Pure red cell aplasia Chorioretinitis Granulomatosis Hepatic encephalopathy Lymphocytosis Aplastic anemia Non-Hodgkin lymphoma Hodgkin lymphoma Sarcoma Vasculitis Hemiparesis Memory impairment Falls Respiratory failure Burkitt lymphoma Pharyngitis Stomatitis Choreoathetosis Cholangitis Gingivitis Recurrent lower respiratory tract infections Hepatocellular carcinoma IgA deficiency Involuntary movements Clumsiness Neurodegeneration Reduced natural killer cell activity Dysarthria Papilledema Abnormality of coagulation Decreased liver function Diplopia Edema Fulminant hepatitis Delayed puberty Pulmonary arterial hypertension Cerebral cortical atrophy Vitiligo Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Irregular vertebral endplates Recurrent sinusitis Progressive spastic quadriplegia Basal ganglia calcification Scleroderma Restrictive ventilatory defect Spastic diplegia Metaphyseal irregularity Systemic lupus erythematosus Rhizomelia Madelung deformity Metaphyseal sclerosis Cerebral calcification Talipes equinovarus Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Midface retrusion Behavioral abnormality Blindness Anteverted nares Optic atrophy Arthralgia/arthritis Brachydactyly Epicanthus Flexion contracture Cryptorchidism Hypertelorism Microcephaly Hypopigmented skin patches on arms Spastic tetraplegia Micromelia Inflammatory abnormality of the skin Dilatation of the cerebral artery B lymphocytopenia Primary hypothyroidism Enterocolitis Generalized osteoporosis Chronic mucocutaneous candidiasis Abnormality of the endocrine system Hashimoto thyroiditis Renovascular hypertension Pulmonary embolism Thyroiditis Inflammation of the large intestine Patent foramen ovale Recurrent upper respiratory tract infections Abnormal intestine morphology Type I diabetes mellitus Antiphospholipid antibody positivity Renal artery stenosis Abnormality of the cerebral white matter Spasticity Arthralgia Skeletal dysplasia Kyphoscoliosis Severe short stature Intellectual disability, mild Abnormality of the skeletal system Low-set ears Abnormal serum interferon-gamma level Autoimmune neutropenia Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Keratoacanthoma



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