Immunodeficiency, and Acute myeloid leukemia

Diseases related with Immunodeficiency and Acute myeloid leukemia

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

Top matches:

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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

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

Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Myelodysplasia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Pancytopenia

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Acute leukemia Myeloid leukemia Intellectual disability Bone marrow hypocellularity Failure to thrive Hodgkin lymphoma Growth delay Leukopenia Hearing impairment Short stature Global developmental delay Decreased antibody level in blood Lymphoma Telangiectasia Lymphopenia Microcephaly Splenomegaly Hepatomegaly Hypothyroidism Intellectual disability, mild Lymphadenopathy Micrognathia Generalized hypotonia Aplastic anemia Neutropenia Cryptorchidism

Rare Symptoms - Less than 30% cases

Malabsorption Specific learning disability Sepsis Ichthyosis Carious teeth Small for gestational age Type II diabetes mellitus Delayed skeletal maturation Sensorineural hearing impairment Abnormality of the skeletal system Scoliosis Respiratory distress Cataract Pulmonary fibrosis Ataxia Diarrhea Erythema Cafe-au-lait spot Postnatal growth retardation Hyperthyroidism Hyperhidrosis Clinodactyly of the 5th finger Hypopigmented skin patches Abnormality of the dentition Intrauterine growth retardation Seizures Hand polydactyly Squamous cell carcinoma Cellular immunodeficiency Telangiectasia of the skin Chromosome breakage Multiple lipomas Abnormality of chromosome stability Neonatal respiratory distress Recurrent bacterial infections Carcinoma Cutaneous photosensitivity Cellulitis Lymphedema Epicanthus Edema Delayed speech and language development Syndactyly Recurrent respiratory infections B lymphocytopenia Verrucae Nausea and vomiting Cirrhosis Bruising susceptibility Recurrent viral infections Fatigue Pneumonia Leukocytosis Intracranial hemorrhage Otitis media High palate Thyroiditis Renal cell carcinoma Macule Cutis marmorata Motor delay Melanocytic nevus Hashimoto thyroiditis Reticulated skin pigmentation Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Cognitive impairment Generalized hypopigmentation of hair Abnormality of the thyroid gland Ovarian neoplasm Pain Muscle weakness Hypertelorism Cystic hygroma Goiter Anal mucosal leukoplakia Pterygium of nails Multiple cafe-au-lait spots Split nail Brittle scalp hair Fragile teeth Hamartoma Low-set ears Increased intracranial pressure Breast carcinoma Pectus excavatum Overgrowth Macroglossia Abnormal cerebellum morphology Myopathy Kyphosis Headache Dilatation Autism Broad thumb Narrow mouth Proximal muscle weakness Palmoplantar keratoderma Polymicrogyria Intellectual disability, moderate Joint hypermobility Papule Intention tremor Atrial septal defect Brachydactyly Gynecomastia Melanoma Myopia Abnormality of the kidney Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Skeletal muscle atrophy Hydrocephalus Exotropia Macrocephaly Downslanted palpebral fissures Chronic diarrhea Tremor Frontal bossing Subcutaneous nodule Hypoplasia of the maxilla Neoplasm of the central nervous system Scaphocephaly Dyspnea Autoimmunity Arthritis Hemoglobin H Reduced alpha/beta synthesis ratio Abnormal hemoglobin Hypochromic microcytic anemia Microcytic anemia Abnormal bleeding Acute lymphoblastic leukemia Systemic lupus erythematosus Aspiration Polyhydramnios Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Neurodegeneration Rheumatoid arthritis Enlarged cerebellum Thin vermilion border Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Psoriasiform dermatitis Low anterior hairline Hypoplasia of penis Telecanthus B-cell lymphoma Abnormality of the nervous system Brachycephaly Upslanted palpebral fissure Wide nasal bridge Non-Hodgkin lymphoma Lung adenocarcinoma Lymphocytosis Chronic lymphatic leukemia Lymphoproliferative disorder Trichilemmoma Cutis marmorata telangiectatica congenita Lipoma Abnormality of the uterus Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Furrowed tongue Fibroma Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Hamartomatous polyposis Generalized hyperkeratosis Fibroadenoma of the breast Follicular thyroid carcinoma Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Varicocele Abnormal leukocyte morphology Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Phimosis Cerebellar hypoplasia Pancreatic adenocarcinoma Eczema Coxa vara Nephrocalcinosis Type I diabetes mellitus Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Microdontia Short thorax Generalized muscle weakness Narrow chest Pectus carinatum Respiratory tract infection Elevated hepatic transaminase Skeletal dysplasia Osteopenia Metaphyseal widening Steatorrhea Abnormal neutrophil count Proximal femoral metaphyseal irregularity Short nose Cardiomyopathy Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Enlargement of the costochondral junction Exocrine pancreatic insufficiency Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Ovoid vertebral bodies Gait disturbance Macronodular cirrhosis Severe short stature Panniculitis Fever Abnormal natural killer cell morphology Recurrent mycobacterium avium complex infections Monocytopenia Chronic myelomonocytic leukemia Severe viral infections Alveolar proteinosis Recurrent fungal infections Cerebellar atrophy Severe sensorineural hearing impairment Venous thrombosis Spontaneous abortion Recurrent otitis media Pulmonary arterial hypertension Nephrotic syndrome Hypertension Respiratory insufficiency Visual loss Erysipelas Webbed neck Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Prolonged bleeding time Chronic otitis media Hypotelorism Migraine Respiratory failure Tapered finger Hematuria Hemolytic anemia Vertigo Neurological speech impairment Scarring Pallor Weight loss Malar flattening Diabetes mellitus Reticular hyperpigmentation Oligohydramnios Sparse eyelashes Conjunctivitis Horseshoe kidney Truncal ataxia Hyperpigmentation of the skin Sparse scalp hair Decreased fetal movement Cerebral calcification Anosmia Decreased testicular size Gastrointestinal hemorrhage Gliosis Hypopigmentation of the skin Abnormality of skin pigmentation Nail dystrophy Muscular hypotonia of the trunk Abnormal intestine morphology Dermal atrophy Cerebral cortical atrophy Oral leukoplakia Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Blepharitis Pterygium Premature loss of teeth Generalized hyperpigmentation Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Premature graying of hair Flared metaphysis Epiphora Hepatosplenomegaly Osteoporosis Polydactyly Bronchiectasis IgA deficiency High pitched voice Reduced number of teeth Sacral dimple Azoospermia Narrow face Sinusitis Abnormality of the face Hypoplasia of the zygomatic bone Hypertrichosis Abnormality of the skin Prominent nose Infertility Dolichocephaly Finger syndactyly Skin rash Protruding ear IgG deficiency Hypoplastic pelvis Alopecia Facial telangiectasia in butterfly midface distribution Hyporeflexia Hypospadias Hypertonia Ventriculomegaly Optic atrophy Visual impairment Strabismus Agenesis of maxillary lateral incisor Chronic lung disease Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Large beaked nose


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