Delayed speech and language development, and Meningitis

Diseases related with Delayed speech and language development and Meningitis

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


Top matches:

Medium match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

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

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: SCTID OMIM ORPHANET

More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA

Medium match HYPEREKPLEXIA 2; HKPX2

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Motor delay
  • Hyperreflexia
  • Hypertonia


SOURCES: OMIM DOID UMLS MONDO

More info about HYPEREKPLEXIA 2; HKPX2

Medium 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 kostmann disease, agranulocytosis, infantile

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM MONDO ICD10 GARD ORPHANET

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

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Other less relevant matches:

Medium match OROTIC ACIDURIA

Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.

OROTIC ACIDURIA Is also known as orotic aciduria i, orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, oprt and odc deficiency, orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency, uridine monophosphate synthase deficiency, ump synthase deficiency, umps deficiency;oroticaciduria; orotidylic decarboxylase deficiency; uridine monophosphate synthetase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: DOID ORPHANET NCIT GARD SCTID OMIM MONDO

More info about OROTIC ACIDURIA

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:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: GARD DOID OMIM UMLS MESH MONDO

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

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 hplh1, hlh1, hemophagocytic lymphohistiocytosis, familial;fhl;fhlh;hplh, reticulosis, familial histiocytic, hemophagocytic reticulosis, familial, erythrophagocytic lymphohistiocytosis, familial;fel

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: NCIT DOID MONDO ORPHANET ICD10 OMIM

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Medium 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 immunodeficiency, common variable, with central adrenal insufficiency, deficit in anterior pituitary function and variable immunodeficiency;david

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia


SOURCES: OMIM UMLS

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Medium match CINCA SYNDROME; CINCA

Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002).See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with a less severe phenotype.

CINCA SYNDROME; CINCA Is also known as chronic neurologic cutaneous and articular syndrome, multisystem inflammatory disease, neonatal-onset;nomid, cryopyrin-associated periodic syndrome 3;caps3;chronic infantile neurological cutaneous articular syndrome; iomid syndrome; infantile-onset multisystem inflammatory disease; nomid syndrome; neonatal-onset multisystem inflammatory disease; prieur-griscelli syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM ORPHANET

More info about CINCA SYNDROME; CINCA

Medium match MIRAGE SYNDROME; MIRAGE

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME; MIRAGE Is also known as myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy;myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome; myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET UMLS NCIT OMIM MONDO GARD

More info about MIRAGE SYNDROME; MIRAGE

Medium match GAUCHER DISEASE, TYPE III

Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II.Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (OMIM ), which is associated with cardiovascular calcifications.

GAUCHER DISEASE, TYPE III Is also known as gd iii, gaucher disease, subacute neuronopathic type, gaucher disease, chronic neuronopathic type, gaucher disease, juvenile and adult, cerebral;cerebral juvenile and adult form of gaucher disease; chronic neuronopathic gaucher disease; gaucher disease, subacute neuronopathic type

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Short stature
  • Pica
  • Ataxia


SOURCES: ORPHANET UMLS GARD OMIM DOID MONDO SCTID

More info about GAUCHER DISEASE, TYPE III

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Meningitis

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Ataxia Sepsis Motor delay Failure to thrive Fever Immunodeficiency Hepatomegaly Leukopenia Increased intracranial pressure Hyponatremia Encephalitis Lymphadenopathy Recurrent bacterial infections Skin rash Recurrent respiratory infections Hepatosplenomegaly Spasticity Hypertonia Hearing impairment Short stature Autosomal dominant inheritance Fatigue Recurrent infections Encephalopathy

Rare Symptoms - Less than 30% cases


Purpura Generalized hypotonia Hematuria Hypoglycemia Patent ductus arteriosus Increased antibody level in blood Myelodysplasia Generalized edema Adrenal insufficiency Growth delay Intellectual disability Gastroesophageal reflux Myoclonus Hernia EEG abnormality Decreased body weight Pica Edema Prolonged prothrombin time CSF pleocytosis Hypoproteinemia Hemophagocytosis Increased CSF protein Increased total bilirubin Hypofibrinogenemia Hemiplegia Pancytopenia Coma Hypertriglyceridemia Tetraplegia Irritability Gait disturbance Renal insufficiency Jaundice Elevated hepatic transaminase Hypoalbuminemia Increased serum ferritin Alopecia Chronic diarrhea Dementia Arthritis Retinopathy Neutropenia Decreased antibody level in blood Otitis media Sinusitis Depressivity Sensorineural hearing impairment Neoplasm Recurrent urinary tract infections Nevus Lymphopenia Diarrhea Urticaria Amyloidosis Juvenile rheumatoid arthritis Uveitis Delayed closure of the anterior fontanelle Abnormal joint morphology Abnormal thrombocyte morphology Progressive sensorineural hearing impairment Leukocytosis Elevated erythrocyte sedimentation rate Elevated C-reactive protein level Arthropathy Inflammatory abnormality of the eye Abnormality of neutrophils Enteroviral dermatomyositis syndrome Joint dislocation Reduced bone mineral density Macrocephaly Vitiligo Chronic sinusitis Adrenocorticotropic hormone deficiency Alopecia totalis Alopecia areata Central adrenal insufficiency Trachyonychia Abnormal facial shape Milia Visual impairment Brachydactyly Frontal bossing Vasculitis Blindness Proptosis Myopathy Arthralgia Myalgia Skeletal dysplasia Nausea and vomiting Papule Premature birth Migraine Overgrowth Retrobulbar optic neuritis Pseudopapilledema Abnormal granulocyte morphology Mania Hydrops fetalis Adult onset Ophthalmoplegia Abnormality of eye movement Parkinsonism Generalized myoclonic seizures Apraxia Pulmonary arterial hypertension Progressive neurologic deterioration Bone pain Osteolysis Increased bone mineral density Spastic paraparesis Oculomotor apraxia Neurological speech impairment Increased susceptibility to fractures Interstitial pulmonary abnormality Pericardial effusion Abnormal heart valve morphology Aseptic necrosis Bipolar affective disorder Esodeviation Abnormal myocardium morphology Aortic valve calcification Vascular calcification Mitral valve calcification Decreased beta-glucocerebrosidase protein and activity Delayed puberty Abnormality of the eye Scoliosis Rocker bottom foot Cryptorchidism Intrauterine growth retardation Talipes equinovarus Hydrocephalus Hypospadias Paraplegia Decreased testicular size Renal hypoplasia Hyperpigmentation of the skin Hypergonadotropic hypogonadism Intracranial hemorrhage Hyperkalemia Petechiae Proteinuria Adrenal hypoplasia Overlapping fingers Aspiration pneumonia Achalasia Microphallus Esophageal stricture Radial club hand Hypoplastic spleen Strabismus Cognitive impairment Myopia Delayed skeletal maturation Autoimmune thrombocytopenia Cortical visual impairment Ventricular septal defect Thrombocytosis Acute lymphoblastic leukemia Granulocytopenia Congenital neutropenia Monocytosis Agranulocytosis Tonsillitis Hypertelorism Downslanted palpebral fissures Wide nasal bridge Atrial septal defect Eosinophilia Rheumatoid arthritis Chronic otitis media Low-set, posteriorly rotated ears Aciduria Osteomyelitis Hip dysplasia Aminoaciduria Abnormality of the ureter Abnormal toenail morphology Megaloblastic anemia Poikilocytosis Myositis Glossoptosis Impaired T cell function Esotropia Lymph node hypoplasia Abnormality of the tonsils Prostatitis Hyperreflexia Epididymitis Septic arthritis Recurrent cutaneous abscess formation Hyperactivity Pyoderma Clonus Hiatus hernia Clumsiness Exaggerated startle response Increased fetal movement Thymoma Abnormality of the lymphatic system Cor pulmonale Peripheral neuropathy Infantile onset Myelopathy Cerebellar atrophy Agammaglobulinemia Leukemia Anisocytosis Oroticaciduria Psoriasiform dermatitis Increased LDL cholesterol concentration X-linked recessive inheritance Hyperbilirubinemia Aspiration Abnormality of the coagulation cascade Episodic fever Pulmonary infiltrates Prolonged partial thromboplastin time Histiocytosis Decreased HDL cholesterol concentration Cellular immunodeficiency Increased VLDL cholesterol concentration Lymphoma T-cell lymphoma Dilatation Dysphagia Pneumonia Nail dystrophy Growth hormone deficiency Enteroviral hepatitis Bronchiectasis Asthma Inflammatory abnormality of the skin Tics Peripheral demyelination Hepatic failure Folate-unresponsive megaloblastic anemia Abnormal lung morphology Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Cellulitis Hypopigmented skin patches Hypocalcemia Conjunctivitis Vomiting Headache Telangiectasia Acrania Gliosis Skin ulcer Diplopia Hepatitis Recurrent pneumonia Papilledema Malabsorption Autoimmunity Weight loss Rod-cone dystrophy Muscular hypotonia Abnormality of the liver Horizontal supranuclear gaze palsy



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