Arthritis, and Neutropenia

Diseases related with Arthritis and Neutropenia

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


Top matches:

Low match AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7


AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Arthritis
  • Erythema
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

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Other less relevant matches:

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match GENERALIZED PUSTULAR PSORIASIS


Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Top 5 symptoms//phenotypes associated to Arthritis and Neutropenia

Symptoms // Phenotype % cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased antibody level in blood Osteomyelitis Inflammation of the large intestine Failure to thrive Verrucae Respiratory tract infection Fever Short stature Bronchiectasis Skin rash Recurrent bacterial infections Thrombocytopenia Growth delay

Rare Symptoms - Less than 30% cases


High palate Hemolytic anemia Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Interstitial pulmonary abnormality Colitis Lymphadenopathy Autoimmune thrombocytopenia Delayed puberty Interstitial pneumonitis Seizures Abnormal lung morphology Recurrent otitis media Epicanthus Otitis media Cellulitis Combined immunodeficiency Leukocytosis Recurrent upper respiratory tract infections Meningitis Sinusitis Diarrhea Lymphoma Acidosis Respiratory failure Congestive heart failure Neoplasm Chronic diarrhea Conjunctivitis Recurrent sinusitis Pancytopenia Autoimmunity Autoimmune hemolytic anemia Hepatosplenomegaly Juvenile rheumatoid arthritis Gout Hypothyroidism Hyperuricemia Focal segmental glomerulosclerosis Pain Fatigue Elevated hepatic transaminase Proteinuria Hypertension Arthralgia Lymphopenia Erythema Diabetes mellitus Agammaglobulinemia Purpura Hepatitis Bone marrow hypercellularity Nail dysplasia Nausea Recurrent pneumonia Recurrent skin infections Hypersegmentation of neutrophil nuclei Dehydration Encephalitis Chronic otitis media Tonsillitis Bronchitis Myelokathexis Epidermal acanthosis Sepsis Hypertelorism Palmoplantar pustulosis Periostitis Asthenia Neutrophilia Chills Cholangitis Furrowed tongue Geographic tongue B lymphocytopenia Cough Malabsorption Parakeratosis Pustule Psoriasiform dermatitis External ear malformation Osteoporosis Crohn's disease Gastritis Asthma Clubbing Follicular hyperplasia Folliculitis IgA deficiency Fatigable weakness Generalized lymphadenopathy IgM deficiency Doll-like facies Immune dysregulation Exocrine pancreatic insufficiency Cor pulmonale Brain neoplasm Villous atrophy Clubbing of fingers Chronic lung disease Splenomegaly Lipemia retinalis Recurrent enteroviral infections Hyperlipidemia Hepatomegaly Nail dystrophy Hypoglycemia Lactic acidosis Abnormal bleeding Nephrolithiasis Headache Pancreatitis Decreased glomerular filtration rate Protuberant abdomen Hepatocellular carcinoma Enlarged kidney Muscle weakness Xanthomatosis Xanthelasma Burkitt lymphoma Oral ulcer Septic arthritis Decreased methylcobalamin Abnormality of bone marrow cell morphology Abnormality of the dentition Amenorrhea Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Impotence Increased serum ferritin Increased serum iron Leukemia Abnormality of the liver Eczema Celiac disease Scleroderma Atopic dermatitis Recurrent ear infections Primary hypothyroidism Intellectual disability Cirrhosis Abdominal pain Generalized hypotonia Postnatal growth retardation Erythema nodosum Cleft palate Cognitive impairment Intrauterine growth retardation Dilatation Polydactyly Abnormality of the kidney Nephropathy Cardiomyopathy Hematuria Renal cyst Bifid uvula Chronic kidney disease Preaxial polydactyly Elevated serum creatinine Velopharyngeal insufficiency Global developmental delay Ataxia Abnormality of female external genitalia Hearing impairment Glossitis Hyperhomocystinemia Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Carcinoma Homocystinuria Carious teeth Recurrent urinary tract infections IgG deficiency Periodontitis B-cell lymphoma Atelectasis Abnormality of female internal genitalia Methylmalonic acidemia Methylmalonic aciduria Muscular hypotonia Small for gestational age Low-set ears Feeding difficulties Abnormal heart morphology Thin upper lip vermilion Feeding difficulties in infancy Developmental regression Microtia Lethargy Stomatitis Aciduria Abnormality of the skin Psychosis Incoordination Rheumatoid arthritis Macrocytic anemia Megaloblastic anemia Oligoarthritis



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