Spasticity, and Meningitis

Diseases related with Spasticity and Meningitis

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


Top matches:

Low match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

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Other less relevant matches:

Low 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

Low 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

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match IMMUNODEFICIENCY 44; IMD44


Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Related symptoms:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Top 5 symptoms//phenotypes associated to Spasticity and Meningitis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Encephalitis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Hepatosplenomegaly Ataxia Failure to thrive Leukopenia Hypertonia EEG abnormality Increased serum ferritin Pancytopenia Increased antibody level in blood Recurrent respiratory infections Generalized hypotonia Lymphadenopathy Encephalopathy Confusion Thrombocytopenia Motor delay Splenomegaly Vomiting Myoclonus Anemia Hepatomegaly Cognitive impairment Intellectual disability

Rare Symptoms - Less than 30% cases


Hypertriglyceridemia Generalized myoclonic seizures Clubbing Edema Jaundice Tetraplegia Coma Irritability Elevated hepatic transaminase Mental deterioration Abnormality of coagulation Increased intracranial pressure Aspiration Lethargy Abdominal pain Hemiparesis Herpes simplex encephalitis Depressivity Growth delay Abdominal distention Scoliosis Gliosis Hypoalbuminemia CSF pleocytosis Hypofibrinogenemia Increased total bilirubin Generalized edema Hypoproteinemia Increased CSF protein Hyponatremia Hemiplegia Prolonged prothrombin time Hemophagocytosis Gastroesophageal reflux Sepsis Leukemia Myopia Granulocytopenia Sinusitis Purpura Otitis media Abnormality of the nervous system Eosinophilia Hyperreflexia Gait disturbance Shock Short stature Kyphosis Cerebral visual impairment Strabismus Fatigue Diarrhea Congestive heart failure Cerebral edema Dementia Arrhythmia Neurological speech impairment Hematuria Bruising susceptibility Cirrhosis Abnormality of skin pigmentation Abnormality of eye movement Delayed puberty Corneal opacity Delayed skeletal maturation Abnormality of the eye Proteinuria Arthritis Osteopenia Dyspnea Osteoporosis Stomatitis Abnormality of mitochondrial metabolism Edema of the lower limbs Opsoclonus Fused cervical vertebrae Oral-pharyngeal dysphagia Flat occiput Spondyloepiphyseal dysplasia Tibial bowing Progressive spasticity Atonic seizures Short humerus Loss of speech Bell-shaped thorax Radial bowing Short femur 11 pairs of ribs Homonymous hemianopia Lethal skeletal dysplasia Hemianopia Coronal cleft vertebrae Intestinal pseudo-obstruction Fibular aplasia Long clavicles Aplasia/Hypoplasia of the ulna Laryngeal stenosis Multiple joint dislocation Thoracic platyspondyly Club-shaped proximal femur Multinucleated giant chondrocytes in epiphyseal cartilage Distal tapering femur CNS infection Obesity Encephalomalacia Chorea Cyanosis Ascites Abnormality of bone marrow cell morphology Hematological neoplasm Pathologic fracture Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Exertional dyspnea Aseptic necrosis Arthralgia of the hip Flank pain Spontaneous hematomas Interstitial pulmonary abnormality Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Protuberant abdomen Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Gingival bleeding Hepatocellular carcinoma Cardiac valve calcification Short metatarsal Abnormal bleeding Spastic paraparesis Parkinsonism Syncope Bipolar affective disorder Abnormality of the cardiovascular system Apraxia Pulmonary arterial hypertension Epistaxis Progressive neurologic deterioration Osteoarthritis Decreased body weight Anorexia Hepatic fibrosis Bone pain Increased bone mineral density Osteolysis Horizontal supranuclear gaze palsy Oculomotor apraxia Reduced bone mineral density Increased susceptibility to fractures Cholelithiasis Portal hypertension Metabolic acidosis Abnormality of the thorax Leukocytosis Menorrhagia Osteomyelitis Petechiae Pericardial effusion Acidosis Visual impairment Elbow dislocation Weight loss Hyperkinesis Muscular hypotonia Autoimmune thrombocytopenia Vitiligo Chronic sinusitis Alopecia totalis Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Headache Diplopia Decreased liver function Papilledema Immune dysregulation Neoplasm Abnormality of the liver Psoriasiform dermatitis Skin rash Hepatic failure Hemolytic anemia Lymphoma Peripheral demyelination Hyperbilirubinemia Albinism Abnormality of the coagulation cascade Combined immunodeficiency Episodic fever Severe combined immunodeficiency Pulmonary infiltrates Acute leukemia Prolonged partial thromboplastin time Adrenal insufficiency Bronchiectasis Cellular immunodeficiency Myelodysplasia Hernia Hyperactivity Astigmatism Esotropia Hiatus hernia Exaggerated startle response Glabellar reflex Hearing impairment Peripheral neuropathy Cerebellar atrophy Neutropenia Clumsiness Bone marrow hypocellularity Recurrent bacterial infections Myeloid leukemia Inflammatory abnormality of the skin Acute myeloid leukemia Thrombocytosis Acute lymphoblastic leukemia Congenital neutropenia Monocytosis Tonsillitis Agranulocytosis Dysphagia Alopecia Hypoglycemia Nail dystrophy Asthma Decreased antibody level in blood Growth hormone deficiency Decreased HDL cholesterol concentration Histiocytosis Disproportionate short-limb short stature Talipes Autism Proptosis Mandibular prognathia Polyhydramnios Macrotia Skeletal dysplasia Deeply set eye Anxiety Hyperlordosis Respiratory tract infection Autistic behavior Generalized tonic-clonic seizures Narrow chest Poor speech Nausea Brachycephaly Inability to walk Premature birth Short metacarpal Limb undergrowth Lumbar hyperlordosis Encephalocele Recurrent urinary tract infections Rhizomelia Muscle stiffness Recurrent pneumonia Absence seizures Joint dislocation Abnormality of the outer ear Drooling Respiratory failure Severe short stature Increased LDL cholesterol concentration Low-set ears Partial albinism T-cell lymphoma Increased VLDL cholesterol concentration Polyneuritis Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Microcephaly Hypertelorism Micrognathia Abnormal facial shape Cleft palate Pain Cryptorchidism Flexion contracture Pneumonia Short neck Constipation Hypospadias Midface retrusion Malar flattening Short nose Respiratory distress Talipes equinovarus Feeding difficulties Abnormality of the skeletal system Frontal bossing Macrocephaly Brachydactyly Depressed nasal bridge Delayed speech and language development Severe viral infection



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