Cognitive impairment, and Lymphopenia

Diseases related with Cognitive impairment and Lymphopenia

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


Top matches:

Low match IMMUNODEFICIENCY 37; IMD37


Related symptoms:

  • Seizures
  • Immunodeficiency
  • Recurrent infections
  • Respiratory tract infection
  • Decreased antibody level in blood


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 37; IMD37

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2


Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

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Other less relevant matches:

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Low 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 SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Top 5 symptoms//phenotypes associated to Cognitive impairment and Lymphopenia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Leukopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Lymphopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Failure to thrive Hearing impairment Thrombocytopenia Recurrent infections Decreased antibody level in blood Abnormal facial shape Diarrhea Edema Ataxia Global developmental delay Hepatomegaly Neutropenia Respiratory tract infection Recurrent bacterial infections Glomerulonephritis Chronic diarrhea Generalized hypotonia Sepsis Sensorineural hearing impairment Jaundice Growth delay Osteoporosis

Rare Symptoms - Less than 30% cases


Vomiting Fever Microcephaly Skin rash Autoimmunity Arthritis Alopecia Fatigue Fine hair Recurrent skin infections Aciduria Rheumatoid arthritis Vasculitis Inflammatory abnormality of the skin Eczema Hemolytic anemia Brachydactyly Systemic lupus erythematosus Intrauterine growth retardation Neoplasm Malabsorption Splenomegaly Hepatitis Pancytopenia Underdeveloped supraorbital ridges Truncal obesity Hypopigmented skin patches Sparse hair Nausea and vomiting Muscular hypotonia Progressive neurologic deterioration Abnormal lung morphology Depressed nasal ridge Delayed puberty Prominent forehead Pneumonia Delayed skeletal maturation Cirrhosis Combined immunodeficiency Hemophagocytosis Hypoglycemia Depressed nasal bridge Microtia Hypocalcemia Hypoalbuminemia Narrow mouth Stage 5 chronic kidney disease Intellectual disability, severe Retinopathy Encephalitis Hypertelorism Abnormality of the nervous system Woolly hair Encephalocele Increased mean platelet volume Bone marrow hypocellularity Hyperlipidemia Cranial nerve paralysis Trichorrhexis nodosa Reduced tendon reflexes Cutaneous anergy Peripheral pulmonary artery stenosis Pyloric stenosis Albinism Premature graying of hair Petechiae Reduced delayed hypersensitivity Partial albinism Iris hypopigmentation Abnormality of lipid metabolism Abnormality of neutrophils Abnormal thrombocyte morphology Large forehead Pulmonary infiltrates Villous atrophy Abnormal eyelash morphology Abnormal eyebrow morphology Edema of the lower limbs White hair Generalized edema Abnormality of the pancreas Abnormality of the liver Intermittent diarrhea Galactosuria Micronodular cirrhosis Hyperlysinuria Psychotic episodes Alveolar proteinosis Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Asterixis Nystagmus Spasticity Abnormality of iron homeostasis Hydrocephalus Humoral immunodeficiency Intractable diarrhea Hepatosplenomegaly Rigidity Lethargy Hypermethioninemia Renal cortical microcysts Abnormality of movement Lymphadenopathy Hypopigmentation of the skin Increased serum iron Ascites Abnormal cerebellum morphology Thrombocytosis Peripheral demyelination Secretory diarrhea Hypergalactosemia Melanin pigment aggregation in hair shafts Iron deficiency anemia Downslanted palpebral fissures Recurrent cutaneous abscess formation Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Tetralogy of Fallot Enteroviral dermatomyositis syndrome Premature birth Enteroviral hepatitis Bifid uvula Wide nose Low-set ears Wide nasal bridge Hepatic failure Hepatic fibrosis Pulmonic stenosis Broad forehead Abnormality of the pinna Large placenta Small for gestational age Elevated hepatic transaminase Polyhydramnios Proptosis Dry skin Abnormal heart morphology Hernia Long philtrum Anteverted nares Ventricular septal defect Frontal bossing Pyoderma Thymoma Silver-gray hair Encephalopathy Telangiectasia Recurrent urinary tract infections Otitis media Weight loss Dementia Rod-cone dystrophy Depressivity Skin ulcer Dilatation Myopathy Delayed speech and language development Accumulation of melanosomes in melanocytes Curly hair Wide mouth Sinusitis Meningitis Increased serum ferritin Glossoptosis Abnormality of the hair Aortic regurgitation Recurrent upper respiratory tract infections Myelopathy Cor pulmonale Agammaglobulinemia Brittle hair Recurrent pneumonia Bronchitis Abnormality of the immune system Cellulitis Osteomyelitis Chronic otitis media Conjunctivitis Abnormality of the lymphatic system Delayed menarche Glomerulopathy Sensory impairment Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Absent testis Scoliosis High palate Dysarthria Abnormality of the skeletal system Hyporeflexia Recurrent respiratory infections Myoclonus Gastroesophageal reflux Conductive hearing impairment Erythema Asthma Lymphoma Primary hypothyroidism Cortical myoclonus Purpura Cutaneous photosensitivity Psychosis Memory impairment Abnormality of the skin Midface retrusion Autoimmune neutropenia Bronchiectasis Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Narrow palpebral fissure Diffuse mesangial sclerosis Primary adrenal insufficiency Abnormality of coagulation Lymphedema Pericardial lymphangiectasia Pulmonary lymphangiectasia Irregular dentition Erysipelas Intestinal lymphangiectasia Hypoproteinemia Flat face Cryptorchidism Blepharophimosis Camptodactyly Syndactyly Intellectual disability, mild Epicanthus Status epilepticus Strabismus Ptosis Adrenal insufficiency Focal-onset seizure Focal segmental glomerulosclerosis Focal impaired awareness seizure Glomerulosclerosis Hypertriglyceridemia Epidermal acanthosis Nephrotic syndrome Ichthyosis Peripheral neuropathy Developmental regression Mental deterioration Proteinuria Hypothyroidism Micropenis Hypogonadism Nephritis Increased antibody level in blood Malnutrition Renal insufficiency High pitched voice External genital hypoplasia Prematurely aged appearance Proportionate short stature Abnormality of the elbow Concave nasal ridge Immune dysregulation Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Lymphoid interstitial pneumonia Muscle weakness Feeding difficulties Skeletal muscle atrophy Respiratory insufficiency Acidosis Reduced number of teeth Increased serum lactate Abnormality of the coagulation cascade Hyperextensible skin Hyperammonemia Cutis laxa Pancreatitis Aminoaciduria Brain atrophy Osteopenia Abnormal bleeding Postural instability Recurrent fractures Coma Metabolic acidosis Nausea Keratitis Short long bone Abnormality of the thyroid gland Gangrene Malar rash Complement deficiency Antiphospholipid antibody positivity Pleuritis Antinuclear antibody positivity Raynaud phenomenon Hashimoto thyroiditis Micrognathia Epiphyseal stippling Aseptic necrosis Autoimmune thrombocytopenia Thyroiditis Pericarditis Autoimmune hemolytic anemia Serositis Motor delay Hypercholesterolemia Microdontia Increased body weight Short toe Hypohidrosis Osteoarthritis Blue sclerae Hypoplasia of penis Progressive visual loss Respiratory distress Growth hormone deficiency Delayed eruption of teeth Deeply set eye High forehead Severe short stature Obesity Abnormalities of placenta or umbilical cord



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