Failure to thrive, and Acute myeloid leukemia

Diseases related with Failure to thrive and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Acute myeloid 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

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

Other less relevant matches:

High 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

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

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

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

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Myelodysplasia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Myeloid leukemia

Uncommon Symptoms - Between 30% and 50% cases

Bone marrow hypocellularity Cafe-au-lait spot Pancytopenia Chromosome breakage Thrombocytopenia Intellectual disability Aplastic anemia Intrauterine growth retardation Hypertelorism Seizures Small for gestational age Postnatal growth retardation Acute monocytic leukemia Immunodeficiency Atrial septal defect Recurrent infections Micrognathia Respiratory distress Global developmental delay Leukopenia Short thumb Headache Telangiectasia Neutropenia Weight loss Fatigue High palate Ataxia Hodgkin lymphoma Squamous cell carcinoma Intellectual disability, mild Hypopigmented skin patches Lymphoma Hyperhidrosis Strabismus Hearing impairment Scoliosis Chromosomal breakage induced by crosslinking agents Hydrocephalus Anal atresia Horseshoe kidney Generalized hypotonia Cryptorchidism Cataract Carcinoma

Rare Symptoms - Less than 30% cases

Decreased antibody level in blood Pulmonary fibrosis Frontal bossing Hand polydactyly Ventriculomegaly Hypothyroidism Azoospermia Visual impairment Cranial nerve paralysis Abnormality of the kidney Pain Dolichocephaly Finger syndactyly Diabetes mellitus Severe short stature Clinodactyly of the 5th finger Abnormality of the dentition Diarrhea Multiple cafe-au-lait spots Cleft palate Abnormality of skin pigmentation Vertigo Hypoplastic anemia Partial duplication of thumb phalanx Fever Reticulocytopenia Hypopigmentation of the skin Thrombocytosis Absent thumb Triphalangeal thumb Bruising susceptibility Arteriovenous malformation Oligohydramnios Nausea and vomiting Abnormal cardiac septum morphology Abnormal heart morphology Congestive heart failure Hepatosplenomegaly Hypospadias Abnormality of the uterus Downslanted palpebral fissures Abnormality of chromosome stability Epicanthus Carious teeth Acute leukemia Breast carcinoma Narrow chest Neonatal respiratory distress Hyperpigmentation of the skin Short neck Medulloblastoma Type I diabetes mellitus Neuroblastoma Hepatomegaly Abnormality of cardiovascular system morphology Ichthyosis Abnormality of the skeletal system Persistence of hemoglobin F Lipoma Microphthalmia Specific learning disability Ventricular septal defect Sepsis Delayed skeletal maturation Multiple lipomas Follicular thyroid carcinoma Abnormal carotid artery morphology Varicocele Menorrhagia Thyroid adenoma Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Intestinal polyp Mucosal telangiectasiae Endometrial carcinoma Trichilemmoma Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Lymphadenopathy Coma Sarcoma Colorectal polyposis Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Progressive macrocephaly Fibroma Long penis Hamartomatous polyposis Goiter Cystic hygroma Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Ecchymosis Incoordination Palmoplantar hyperkeratosis Melanoma Gingival bleeding Night sweats Increased intracranial pressure Hemangioma Chronic pain Drooling Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Cellulitis Hamartoma Papilloma Hydrocele testis Enlarged polycystic ovaries Cavernous hemangioma Nystagmus Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Petechiae Furrowed tongue Meningioma Hyperthyroidism Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Thyroiditis Ovarian neoplasm Lobular carcinoma in situ Scarring Confusion Abnormal eyelid morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the upper limb B-cell lymphoma Pruritus Abnormality of the ulna Hearing abnormality Splenomegaly Paresthesia External ear malformation Abnormal bleeding Chest pain Irregular hyperpigmentation Syncope Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Hydroureter Abnormal aortic valve morphology Abnormal renal morphology Hypoplasia of the ulna Meckel diverticulum Compensated hypothyroidism Absent testis Decreased fertility in males Clubbing of toes Prolonged G2 phase of cell cycle Anemic pallor Complete duplication of thumb phalanx Deficient excision of UV-induced pyrimidine dimers in DNA Aplasia/Hypoplasia of the iris Low-grade fever Neoplasm of head and neck Dysarthria Duplicated collecting system Duodenal stenosis Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormal localization of kidney Abnormality of the preputium Ectopic kidney Glucose intolerance Abnormal facial shape Arterial thrombosis Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Abnormality of the liver Irritability Abnormality of the eye Hypertrophic cardiomyopathy Pes planus Umbilical hernia Proptosis Renal agenesis Chronic myelogenous leukemia Respiratory failure Upslanted palpebral fissure Hypogonadism Patent ductus arteriosus Renal insufficiency Dyspnea Almond-shaped palpebral fissure Hyperreflexia Ptosis Astigmatism Cerebral ischemia Tracheoesophageal fistula Spontaneous abortion Hyperinsulinemia Broad thumb Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Pulmonary arterial hypertension Insulin resistance Tetralogy of Fallot Venous thrombosis Visual field defect Transient ischemic attack Recurrent urinary tract infections Aganglionic megacolon Peripheral arterial stenosis Abnormality of the genital system Choanal atresia Short palpebral fissure Sloping forehead Subcutaneous nodule Increased antibody level in blood Intention tremor Bronchiectasis Hypoplasia of the zygomatic bone IgG deficiency IgA deficiency Telangiectasia of the skin High pitched voice Reduced number of teeth Sacral dimple Narrow face Sinusitis Abnormality of the face Chronic lung disease Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Otitis media Abnormality of the skin Prominent nose Infertility Skin rash Erythema Protruding ear Hypoplastic pelvis Chronic obstructive pulmonary disease Recurrent respiratory infections Glaucoma Coarctation of aorta Webbed neck Premature birth Nausea Cleft upper lip Lethargy Pallor Cleft lip Retrognathia Vomiting Abnormality of the nose Edema Flexion contracture Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Polydactyly Pneumonia Hydrops fetalis Elevated hepatic transaminase Decreased liver function Abnormality of the metaphysis Apraxia Eczema Microdontia Generalized muscle weakness Malabsorption Pectus carinatum Respiratory tract infection Skeletal dysplasia Nephrocalcinosis Osteopenia Gait disturbance Embryonal neoplasm Nephroblastoma T-cell acute lymphoblastic leukemias Peters anomaly Anteriorly placed anus Renal hypoplasia Esotropia Corneal opacity Short ribs Recurrent bacterial infections Syndactyly Enlargement of the costochondral junction Malar flattening Short nose Cardiomyopathy Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Paroxysmal nocturnal hemoglobinuria Coxa vara Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Steatorrhea Short thorax Metaphyseal widening Depressed nasal ridge Abnormal dermatoglyphics Overgrowth Pancreatic adenocarcinoma Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Reticular hyperpigmentation Low-set ears Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Oral leukoplakia Blepharitis Premature loss of teeth Muscle weakness Cognitive impairment Restrictive ventilatory defect Narrow mouth Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Papule Intellectual disability, moderate Proximal muscle weakness Autism Delayed speech and language development Pectus excavatum Dilatation Kyphosis Myopathy Tremor Macrocephaly Skeletal muscle atrophy Myopia Brachydactyly Motor delay Generalized hyperpigmentation Abnormality of coagulation Hypoplasia of the radius Unilateral cleft lip Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Anemia of inadequate production Optic atrophy Increased mean corpuscular volume 11 pairs of ribs Osteosarcoma Hypoplastic ilia Macrocytic anemia Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Hypoplastic sacral vertebrae Hypertonia Premature graying of hair Decreased fetal movement Flared metaphysis Epiphora Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Sparse eyelashes Conjunctivitis Truncal ataxia Sparse scalp hair Cerebral calcification Hyporeflexia Decreased testicular size Gastrointestinal hemorrhage Gliosis Cirrhosis Nail dystrophy Muscular hypotonia of the trunk Cerebral cortical atrophy Osteoporosis Cerebellar hypoplasia Alopecia Acute promyelocytic leukemia


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