Delayed speech and language development, and Lymphadenopathy

Diseases related with Delayed speech and language development and Lymphadenopathy

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


Top matches:

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Low match IMMUNODEFICIENCY 8; IMD8

IMMUNODEFICIENCY 8; IMD8 Is also known as ;scid due to coro1a deficiency; scid due to coronin-1a deficiency; severe combined immunodeficiency due to coronin-1a deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET DOID MONDO OMIM UMLS

More info about IMMUNODEFICIENCY 8; IMD8

Low match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as evans syndrome associated with primary immunodeficiency; tppii deficiency; tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease; tripeptidyl-peptidase ii deficiency

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Lymphadenopathy
  • Stroke


SOURCES: ORPHANET

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

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Other less relevant matches:

Low match IMMUNODEFICIENCY 36; IMD36

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Growth delay
  • Splenomegaly
  • Diarrhea


SOURCES: MONDO UMLS OMIM

More info about IMMUNODEFICIENCY 36; IMD36

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: SCTID NCIT OMIM ORPHANET DOID MESH GARD UMLS MONDO ICD10

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match MACROCEPHALY/AUTISM SYNDROME

Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).

MACROCEPHALY/AUTISM SYNDROME Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hypertelorism


SOURCES: ORPHANET OMIM DOID UMLS MESH MONDO

More info about MACROCEPHALY/AUTISM SYNDROME

Low match NIEMANN-PICK DISEASE, TYPE A

Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007).Knudson and Kaplan (1962) suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; {257220}), and the Nova Scotian variant (type D; see {257220}). The fifth, the adult form (type E; see {607616}), was described by Terry et al. (1954) and Lynn and Terry (1964). Schneider et al. (1978) used the designation type F (see {607616}) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years.Schuchman (2007) provided a detailed review of Niemann-Pick disease type A, including clinical management.

NIEMANN-PICK DISEASE, TYPE A Is also known as sphingomyelin lipidosis, sphingomyelinase deficiency;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS GARD SCTID NCIT ORPHANET DOID ICD10 OMIM MESH MONDO

More info about NIEMANN-PICK DISEASE, TYPE A

Low match NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD

Natural killer cell and glucocorticoid deficiency with DNA repair defect is an autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of NK cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer (summary by Gineau et al., 2012).

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD Is also known as natural killer cell deficiency, familial isolated;nkcd;primary immunodeficiency due to mcm4 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Microcephaly


SOURCES: MESH NCIT UMLS ORPHANET OMIM MONDO

More info about NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD

Low match IMMUNODEFICIENCY 9; IMD9

Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).

IMMUNODEFICIENCY 9; IMD9 Is also known as immune dysfunction with t-cell inactivation due to calcium entry defect 1;cid due to orai1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MONDO GARD ORPHANET UMLS

More info about IMMUNODEFICIENCY 9; IMD9

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:

  • 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

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

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Lymphopenia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory tract infection Failure to thrive Immunodeficiency Recurrent infections Intellectual disability Recurrent respiratory infections Seizures Spasticity Hepatomegaly Autosomal dominant inheritance Lymphoma Fever Tetraplegia Muscular hypotonia Milia Irritability Pneumonia Growth delay Anemia Thrombocytopenia

Rare Symptoms - Less than 30% cases


Autoimmune hemolytic anemia Attention deficit hyperactivity disorder Recurrent pneumonia Edema Bronchiectasis Recurrent sinopulmonary infections Lymphoproliferative disorder Autoimmunity Jaundice Autoimmune thrombocytopenia Diarrhea Decreased antibody level in blood Chronic diarrhea Recurrent upper respiratory tract infections Ataxia Vomiting Stomatitis Neutropenia Recurrent viral infections Hepatosplenomegaly Pica Neoplasm Recurrent bacterial infections Encephalitis Infantile onset Spastic tetraparesis Microcephaly Intrauterine growth retardation Spastic tetraplegia Tetraparesis Short stature Hypertonia Foam cells with lamellar inclusion bodies Cherry red spot of the macula Generalized edema Bone-marrow foam cells Hypoproteinemia Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Ptosis Xanthomatosis Renal insufficiency Delayed skeletal maturation Clinodactyly Respiratory failure Increased serum ferritin Hypoglycemia Postnatal growth retardation Prolonged prothrombin time Protuberant abdomen Papilledema Recurrent aphthous stomatitis Muscle weakness Heat intolerance Hypofibrinogenemia Hyporeflexia Areflexia Constipation Osteoporosis Prolonged neonatal jaundice Increased total bilirubin Feeding difficulties in infancy Rigidity Sleep disturbance Athetosis Hemophagocytosis Microcytic anemia Small for gestational age Adrenal insufficiency Coma Respiratory insufficiency due to muscle weakness Hypertriglyceridemia Ectodermal dysplasia Acrania Pyelonephritis Nephritis Hypocalcemia Postnatal macrocephaly Meningitis Gowers sign Anhidrosis Elevated hepatic transaminase Headache Hernia Amelogenesis imperfecta Episodic fever Sepsis Diplopia Severe intrauterine growth retardation Increased intracranial pressure Increased CSF protein Hypoplasia of the thymus Hypoalbuminemia Abnormal facial shape Myopathy Hemiplegia Talipes equinovarus Protracted diarrhea Hyponatremia Leukopenia Pectus excavatum Encephalopathy Difficulty walking Dry skin Progressive encephalopathy Chromosome breakage Lymph node hypoplasia Opportunistic infection Pruritus Pericardial effusion Progressive spastic paraplegia Atopic dermatitis Serositis Chilblains Cognitive impairment Hyperactivity Papilloma Increased antibody level in blood Hodgkin lymphoma Stroke Hemolytic anemia Recurrent otitis media Hepatitis Hemiparesis Systemic lupus erythematosus Moderate global developmental delay Basal ganglia calcification Toe walking Inflammation of the large intestine Nephrotic syndrome Feeding difficulties Dystonia Cerebral atrophy Alopecia Absent speech Muscular hypotonia of the trunk Developmental regression Skin rash Vasculitis Spastic paraplegia Abnormality of the cerebral white matter Abnormality of eye movement Paraplegia Brain atrophy Progressive neurologic deterioration Lower limb spasticity Progressive microcephaly Arthritis Neurodevelopmental delay Severe combined immunodeficiency Midface retrusion Hypertelorism Depressed nasal bridge Macrocephaly Tics Frontal bossing Short nose Long philtrum Obesity Cerebral vasculitis Oxycephaly Autism Broad forehead Autistic behavior Pancytopenia Macule Biparietal narrowing Combined immunodeficiency Abnormality of B cell physiology Recurrent opportunistic infections Allergy Otitis media Enlarged tonsils Motor delay Tremor Behavioral abnormality Babinski sign Abnormal pyramidal sign Sinusitis Brain abscess Recurrent urinary tract infections Spastic diplegia Recurrent lower respiratory tract infections Impaired T cell function Hypouricemia Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia CSF pleocytosis



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