Failure to thrive, and Neutropenia

Diseases related with Failure to thrive and Neutropenia

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

Top matches:

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Recurrent respiratory infections
  • Neutropenia
  • Recurrent otitis media


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO JAGN1 DEFICIENCY

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 Is also known as agammaglobulinemia, autosomal recessive, due to cd79a defect

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Diarrhea
  • Respiratory tract infection
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

Other less relevant matches:

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Neutropenia

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Recurrent bacterial infections Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Immunodeficiency Global developmental delay Diarrhea Agammaglobulinemia Hepatomegaly Pneumonia Aciduria Respiratory distress Methylmalonic aciduria Vomiting Congenital neutropenia Pancytopenia Recurrent otitis media Lethargy Generalized hypotonia Chronic diarrhea

Rare Symptoms - Less than 30% cases

Feeding difficulties Myelofibrosis Muscular hypotonia Seizures Methylmalonic acidemia Decreased methylmalonyl-CoA mutase activity Intellectual disability Ataxia Leukopenia Decreased adenosylcobalamin Hyperglycinemia Acidosis Hyperammonemia Homocystinuria IgA deficiency IgG deficiency Ketonuria Feeding difficulties in infancy Ketosis Muscle weakness Respiratory tract infection Dehydration Coma Abnormality of the nervous system Metabolic acidosis Encephalopathy Abnormality of mitochondrial metabolism Abnormality of the mitochondrion Intellectual disability, severe Short stature Proteinuria Hearing impairment Extramedullary hematopoiesis Poikilocytosis Anisocytosis Enlarged kidney Increased antibody level in blood Increased body weight Increased bone mineral density Cerebral visual impairment Autistic behavior Splenomegaly Blindness Hypoplasia of the corpus callosum Agranulocytosis Irritability Vitamin B12 deficiency Megaloblastic bone marrow Granulocytopenia Reticulocytopenia Abnormality of chromosome stability Stomatitis Megaloblastic anemia Abnormality of the mouth Acute kidney injury Macrocytic anemia Lymphopenia Abnormal bleeding IgM deficiency Recurrent protozoan infections Tremor Bronchitis Chronic oral candidiasis Intermittent thrombocytopenia Recurrent sinopulmonary infections Conjunctivitis Meningitis Sepsis Recurrent bronchitis Recurrent pneumonia Abnormality of the pinna Otitis media Impaired memory B cell generation IgE deficiency Absence of lymph node germinal center Impaired Ig class switch recombination Increased IgM level Recurrent respiratory infections Abnormality of the skeletal system Nail dysplasia Chronic lymphocytic meningitis Recurrent viral infections Viral hepatitis Cutaneous anergy Panhypogammaglobulinemia Protracted diarrhea Recurrent fungal infections Cholangitis Villous atrophy Chronic mucocutaneous candidiasis Myelodysplasia Recurrent lower respiratory tract infections Colitis Combined immunodeficiency Encephalitis Recurrent upper respiratory tract infections Recurrent urinary tract infections Malabsorption Fragile nails Giant platelets


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