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.
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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
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
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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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
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
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
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
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
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
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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Myopathy and Sensory impairment, related diseases and genetic alterations
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