Failure to thrive, and Acute leukemia

Diseases related with Failure to thrive and Acute leukemia

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

Top matches:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Other less relevant matches:

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Top 5 symptoms//phenotypes associated to Failure to thrive and Acute leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Atrial septal defect Intellectual disability Acute myeloid leukemia Hypertelorism Bone marrow hypocellularity Microcephaly Short thumb Thrombocytopenia Neutropenia Aplastic anemia Cleft upper lip Skeletal dysplasia Polydactyly Abnormal heart morphology Global developmental delay Abnormality of the dentition Edema Short neck Cryptorchidism Strabismus Chromosome breakage Persistence of hemoglobin F Myelodysplasia Immunodeficiency Myeloid leukemia Recurrent infections Cafe-au-lait spot Cleft palate Narrow chest Micrognathia Delayed skeletal maturation Pancytopenia

Rare Symptoms - Less than 30% cases

Sepsis Leukopenia Lymphoma Elevated hepatic transaminase Hepatomegaly Eczema Mild short stature Skin rash Macrocytic anemia Upper limb undergrowth Intellectual disability, mild Hand polydactyly Severe short stature Short thorax Short ribs Microdontia Specific learning disability Ichthyosis Pectus carinatum Abnormality of the skeletal system Fatigue Reticulocytopenia Increased mean corpuscular volume Abnormality of the hand Depressed nasal ridge Pallor Cleft lip Retrognathia Short nose Generalized hypotonia Triphalangeal thumb Acute lymphoblastic leukemia Ventricular hypertrophy Downslanted palpebral fissures Macrocephaly Abnormal cardiac septum morphology Scoliosis Acute monocytic leukemia Hyperpigmentation of the skin Small for gestational age Postnatal growth retardation Cardiomyopathy Abnormality of cardiovascular system morphology Epicanthus Chromosomal breakage induced by crosslinking agents Webbed neck Medulloblastoma Patent ductus arteriosus Anal atresia Abnormality of chromosome stability Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Narrow sacroiliac notch Protruding ear Facial telangiectasia in butterfly midface distribution Irregular ossification at anterior rib ends IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Agenesis of maxillary lateral incisor Talipes equinovarus IgG deficiency Postaxial polydactyly Nail dysplasia Ectodermal dysplasia Myocardial necrosis Hypodontia Metaphyseal dysostosis Delayed eruption of teeth Short distal phalanx of finger Hypospadias Thin vermilion border Micromelia Proximal femoral epiphysiolysis Genu valgum Nail dystrophy Abnormality of the kidney Hypoplasia of the zygomatic bone IgA deficiency Hodgkin lymphoma Type II diabetes mellitus Telangiectasia Bronchiectasis Diabetes mellitus Abnormality of the face Hypertrichosis Cutaneous photosensitivity Otitis media Microphthalmia Abnormality of the skin Prominent nose Decreased antibody level in blood Infertility Dolichocephaly Finger syndactyly Hyperhidrosis Sinusitis Erythema Syndactyly Telangiectasia of the skin Pulmonary fibrosis High pitched voice Squamous cell carcinoma Diarrhea Malar flattening Reduced number of teeth Recurrent respiratory infections Clinodactyly of the 5th finger Hypopigmented skin patches Pneumonia Sacral dimple Azoospermia Narrow face Hydrocephalus Dandy-Walker malformation Renal agenesis Nausea and vomiting Delayed cranial suture closure Hypoplasia of the radius Abnormal dermatoglyphics Hydrops fetalis Coarctation of aorta Premature birth Nausea Lethargy Colon cancer Glaucoma Congestive heart failure Vomiting High palate Flexion contracture Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Congenital glaucoma Vertebral fusion Congenital megaureter Partial duplication of thumb phalanx Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Absent thumb Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production 11 pairs of ribs Osteosarcoma Hypoplastic ilia Thrombocytosis Short iliac bones Capitate-hamate fusion Enlargement of the costochondral junction Short long bone Hypoplastic left heart Hydroureter Dextrocardia Emphysema Hypoplastic toenails Cubitus valgus Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Agenesis of permanent teeth Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Situs inversus totalis Heterotopia Postaxial hand polydactyly Limb undergrowth Thoracic hypoplasia Atrioventricular canal defect Conical incisor Abnormality of female internal genitalia Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Horizontal ribs Epispadias Abnormal hair quantity Thoracic dysplasia Disproportionate short stature Hypoplastic iliac wing Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Proximal femoral metaphyseal irregularity Multiple lipomas Paroxysmal nocturnal hemoglobinuria Severe combined immunodeficiency Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Increased CSF protein Pulmonary infiltrates Episodic fever Prolonged prothrombin time Increased antibody level in blood Combined immunodeficiency Abnormality of the coagulation cascade Albinism Hyponatremia Hemiplegia Hypoalbuminemia Decreased HDL cholesterol concentration Cellular immunodeficiency Eosinophilia CSF pleocytosis Hypertrophic cardiomyopathy Frontal bossing Depressed nasal bridge Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis Hypofibrinogenemia Histiocytosis Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Encephalitis Increased intracranial pressure Pes cavus Fever Jaundice Encephalopathy Relative macrocephaly Hyperextensible skin Systemic lupus erythematosus Splenomegaly Hypertonia Pleural effusion Left ventricular hypertrophy Muscular hypotonia Ataxia Abnormality of the sternum Curly hair Seizures Palmoplantar cutis laxa Chylothorax Hepatosplenomegaly Abnormality of the nervous system Pulmonic stenosis Gliosis Purpura Hyperbilirubinemia Meningitis Aspiration Hypertriglyceridemia Peripheral demyelination Abnormality of the cardiovascular system Tetraplegia Irritability Coma Hemolytic anemia Hepatic failure Lymphadenopathy Confusion Low posterior hairline Abnormality of the liver Kyphosis Prominent forehead Metaphyseal sclerosis Lipoma Horseshoe kidney Generalized muscle weakness Breast carcinoma Carious teeth Anteriorly placed anus Malabsorption Respiratory tract infection Apraxia Osteopenia Peters anomaly Respiratory distress Gait disturbance T-cell acute lymphoblastic leukemias Fetal distress Cleft soft palate Renal hypoplasia Abnormality of the metaphysis Tracheomalacia Graves disease Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Corneal opacity Steatorrhea Decreased liver function Neonatal respiratory distress Metaphyseal widening Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Esotropia Esophagitis Abnormality of the urinary system Polyhydramnios Abnormality of chromosome segregation Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Short 4th metacarpal Delayed speech and language development Lower limb hyperreflexia Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Generalized tonic-clonic seizures Umbilical hernia Hyperkeratosis Short 3rd metacarpal Cognitive impairment Melanoma Bifid uvula Abnormality of the genital system Mitral regurgitation Nephroblastoma Thick lower lip vermilion Mitral valve prolapse Tetralogy of Fallot Migraine Neuroblastoma Low-set ears Delayed puberty Autistic behavior Embryonal neoplasm Autism Osteoporosis Arrhythmia Ptosis Hypoplastic sacral vertebrae


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