Carcinoma, and Pancytopenia

Diseases related with Carcinoma and Pancytopenia

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


Top matches:

High match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3


Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Nail dysplasia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3

High match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

High match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

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Other less relevant matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

High match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

High match HOYERAAL-HREIDARSSON 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 CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

High 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

High match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Top 5 symptoms//phenotypes associated to Carcinoma and Pancytopenia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Bone marrow hypocellularity Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Carcinoma and Pancytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hearing impairment Thrombocytopenia Failure to thrive Aplastic anemia Hypopigmentation of the skin Squamous cell carcinoma Chromosome breakage Telangiectasia Leukemia B-cell lymphoma Nail dystrophy Abnormality of skin pigmentation Global developmental delay Lymphoma Oral leukoplakia Immunodeficiency Strabismus Intrauterine growth retardation Scoliosis Hodgkin lymphoma Ataxia Myeloid leukemia Horseshoe kidney Cafe-au-lait spot Decreased antibody level in blood Epicanthus Abnormality of the skeletal system Cryptorchidism Pneumonia Bronchiectasis Abnormal facial shape Abnormality of chromosome stability Sparse eyelashes Nail dysplasia Pulmonary fibrosis Abnormality of the dentition Esophageal stricture Carious teeth Alopecia Visual impairment Neutropenia

Rare Symptoms - Less than 30% cases


Hepatomegaly Abnormal vertebral morphology Cataract Breast carcinoma Reduced tendon reflexes Truncal ataxia Lymphopenia Recurrent urinary tract infections Hip dislocation Combined immunodeficiency Sinusitis Sparse hair Oligohydramnios Abnormal cardiac septum morphology Non-Hodgkin lymphoma Cellular immunodeficiency Leukopenia Glucose intolerance Premature graying of hair Ventriculomegaly Postnatal growth retardation Abnormality of the testis Respiratory distress Acute myeloid leukemia Hypospadias Anteverted nares Fever Duodenal stenosis Congestive heart failure Small for gestational age Microphthalmia Myelodysplasia Upslanted palpebral fissure Gastrointestinal hemorrhage Multiple cafe-au-lait spots Hypertelorism Severe short stature Hypoplastic anemia Absent thumb Nystagmus Recurrent infections Aganglionic megacolon Pterygium Epiphora Short palpebral fissure Cognitive impairment Seizures Hyperpigmentation of the skin Pterygium of nails Micrognathia Abnormality of the kidney Absent radius Abnormality of the liver Blepharophimosis Diabetes mellitus Short thumb Sparse scalp hair Osteoporosis Squamous cell carcinoma of the tongue Cerebellar hypoplasia Respiratory tract infection Cirrhosis Hypogonadism Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Bruising susceptibility Abnormality of cardiovascular system morphology Headache Metaphyseal dysplasia High hypermetropia Renal agenesis Renal insufficiency Exocrine pancreatic insufficiency Distal arthrogryposis Weight loss Macrocytic anemia Hypoplasia of the odontoid process Anal stenosis Toe syndactyly Abnormality of the foot Facial asymmetry Anal atresia Astigmatism Dolichocephaly Vertigo Proptosis Irritability Abnormality of the eye Hypertrophic cardiomyopathy Pes planus Esophageal atresia Umbilical hernia Hypothyroidism Finger syndactyly Large face Thrombocytosis Mucopolysacchariduria Severe T-cell immunodeficiency Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Long fibula Normocytic anemia Biconvex vertebral bodies Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypersplenism Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Metaphyseal cupping Abnormality of humoral immunity Atrial septal defect Heart block Hydrocephalus Frontal bossing Fatigue Overweight Hyperreflexia Upper limb undergrowth High palate Ptosis Cleft palate Fair hair Metaphyseal chondrodysplasia Tracheal stenosis Generalized joint laxity Abnormality of the pancreas Pulmonary lymphoma Susceptibility to chickenpox Aplasia/Hypoplasia of the abdominal wall musculature Flaring of lower rib cage Aplasia/Hypoplasia affecting the eye Absent pubertal growth spurt Tetralogy of Fallot Acute monocytic leukemia Sloping forehead Arthritis Periodontitis IgG deficiency Cellulitis Osteomyelitis Leukocytosis Recurrent upper respiratory tract infections Recurrent bacterial infections Meningitis Otitis media Respiratory failure Atelectasis Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Verrucae Abnormality of female internal genitalia Absent testis Prominent nasal bridge Macrodontia Stomach cancer Thick upper lip vermilion Ovarian neoplasm Proximal placement of thumb Narrow palate Low anterior hairline Long eyelashes Dental malocclusion Conductive hearing impairment Abnormality of female external genitalia Coarse facial features Clinodactyly Delayed speech and language development Myelokathexis Bone marrow hypercellularity Hypersegmentation of neutrophil nuclei Tonsillitis Septic arthritis Folliculitis Abnormality of bone marrow cell morphology Compensated hypothyroidism Chromosomal breakage induced by crosslinking agents Choanal atresia Abnormality of the urinary system Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Hydroureter Ectopic kidney Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of vision Hearing abnormality Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Type I diabetes mellitus Hypergonadotropic hypogonadism Spina bifida Insulin resistance Abnormality of the genital system External ear malformation Abnormal eyelid morphology Decreased fertility in males Reticulocytopenia Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormal localization of kidney Abnormality of the ulna Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Tibial bowing Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormality of the hip bone Macrotia Basal cell carcinoma Hypopigmentation of hair Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Renal neoplasm Recurrent bronchitis Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma IgA deficiency Chronic lymphatic leukemia Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Hypoplasia of the thymus Conjunctival telangiectasia Oculomotor apraxia Immunoglobulin IgG2 deficiency Hyperhidrosis Hyporeflexia Hypertonia Optic atrophy Generalized hypotonia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Progressive spinal muscular atrophy Chronic myelogenous leukemia Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Cerebral palsy Recurrent pneumonia Hepatosplenomegaly Pelvic kidney Cerebellar atrophy Gait disturbance Tremor Skeletal muscle atrophy Dysarthria Peripheral neuropathy Flexion contracture Spasticity Muscle weakness Vitiligo Recurrent respiratory infections Hypoplasia of the radius Bulbous nose Decreased mean platelet volume Nasolacrimal duct obstruction Poikiloderma Hepatic fibrosis Small nail Microdontia Esophageal stenosis Dystonia Myoclonus Abnormality of the hair Polyneuropathy Limb ataxia Choreoathetosis Intention tremor Type II diabetes mellitus Apraxia Hepatitis Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Distal amyotrophy Gait ataxia Unsteady gait Abnormality of movement Abnormality of eye movement Delayed puberty Neurological speech impairment Distal muscle weakness Anxiety Elevated hepatic transaminase Difficulty walking Cerebral cortical atrophy Muscular hypotonia of the trunk Limited elbow extension Micromelia Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Postural instability Small hand Short palm Joint hypermobility Joint hyperflexibility Abnormality of the metaphysis Narrow chest Malabsorption Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Hyperlordosis Low-set, posteriorly rotated ears Joint laxity EEG abnormality Depressed nasal ridge Abnormal form of the vertebral bodies Brachycephaly Sacral dimple Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Abnormal palate morphology Bowing of the long bones Neoplasm of the skin Accelerated skeletal maturation Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Skeletal dysplasia Prominent forehead Sepsis Abnormality of coagulation Keratoconjunctivitis Excessive wrinkled skin Testicular atrophy Ridged nail Blepharitis Premature loss of teeth Generalized hyperpigmentation Restrictive ventilatory defect Increased antibody level in blood Flared metaphysis Urethral stenosis Neonatal respiratory distress Dermal atrophy Anosmia Abnormal intestine morphology Conjunctivitis Decreased fetal movement Cerebral calcification Decreased testicular size Gliosis Lacrimal duct stenosis Reticular hyperpigmentation Constipation Hypertension Delayed skeletal maturation Dilatation Splenomegaly Diarrhea Cardiomyopathy Short neck Respiratory insufficiency Myopia Wide nasal bridge Depressed nasal bridge Pancreatic adenocarcinoma Muscular hypotonia Anal mucosal leukoplakia Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Ovarian carcinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Skeletal muscle atrophy and Cyanosis, related diseases and genetic alterations Low-set ears and Joint hypermobility, related diseases and genetic alterations Hypertension and Confusion, related diseases and genetic alterations Sensorineural hearing impairment and Syncope, related diseases and genetic alterations Scoliosis and Choreoathetosis, related diseases and genetic alterations Leukemia and Respiratory tract infection, related diseases and genetic alterations

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