Carcinoma, and Hemolytic anemia

Diseases related with Carcinoma and Hemolytic anemia

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


Top matches:

Medium match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Medium match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

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Other less relevant matches:

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Medium match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

Medium 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

Medium match KARYOMEGALIC INTERSTITIAL NEPHRITIS


Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin|systemic karyomegaly

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KARYOMEGALIC INTERSTITIAL NEPHRITIS

Medium match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Medium match BLUE RUBBER BLEB NEVUS


Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLUE RUBBER BLEB NEVUS

Top 5 symptoms//phenotypes associated to Carcinoma and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatitis Diarrhea Growth delay Pneumonia Hepatocellular carcinoma Inflammatory abnormality of the skin Recurrent infections Autoimmune hemolytic anemia Immunodeficiency Autoimmunity

Rare Symptoms - Less than 30% cases


Subcutaneous nodule Leukemia Chronic diarrhea Chronic lymphatic leukemia Hepatosplenomegaly Leukoencephalopathy Encephalitis Splenomegaly Autoimmune thrombocytopenia Iron deficiency anemia Basal cell carcinoma Renal cell carcinoma Renal insufficiency Hepatomegaly Otitis media Purpura Antiphospholipid antibody positivity Lymphoma Recurrent otitis media Lymphopenia Fever Hodgkin lymphoma Papilloma Opportunistic infection Edema Skin rash Sepsis Increased IgM level Hepatic steatosis Autoimmune neutropenia Elevated hepatic transaminase Respiratory tract infection Aplastic anemia Abnormality of the kidney Bone marrow hypocellularity Oral leukoplakia Proteinuria Stage 5 chronic kidney disease Hematuria Esophageal stricture Cholestasis Esophageal stenosis Pancytopenia Nail dysplasia Hypertension Microcephaly Nail dystrophy Susceptibility to herpesvirus Chronic mucocutaneous candidiasis Villous atrophy Generalized osteoporosis Immune dysregulation Enterocolitis Decrease in T cell count Primary hypothyroidism B lymphocytopenia Renovascular hypertension Renal artery stenosis Functional abnormality of the bladder Carotid artery dilatation Recurrent Aspergillus infections Oropharyngeal squamous cell carcinoma Cerebellar hypoplasia Esophageal carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Hyperkeratosis Papule Abnormality of the skin Skin ulcer Meningitis Chronic kidney disease Adenoma sebaceum Keratoacanthoma Intrauterine growth retardation Abnormality of the dentition Neoplasm of the skin Gait disturbance Nephritis Abnormality of the respiratory system Hyperhidrosis Nevus Gastrointestinal hemorrhage Bone pain Hemangioma Abnormality of coagulation Hypermelanotic macule Prolonged bleeding time Pathologic fracture Microcytic anemia Abnormality of the vasculature Abnormality of the mouth Arteriovenous malformation Steatocystoma multiplex Volvulus Medulloblastoma Visceral angiomatosis Rectal prolapse Cavernous hemangioma Intestinal bleeding Melena Venous malformation Gastrointestinal infarctions Intussusception Multiple enchondromatosis Cerebellar medulloblastoma Pain Increased HDL cholesterol concentration Nephronophthisis Dilatation of the cerebral artery Glycosuria Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Normocytic anemia Increased blood urea nitrogen Mild proteinuria Chronic tubulointerstitial nephritis Ataxia Muscular hypotonia Visual impairment Peripheral neuropathy Rod-cone dystrophy Abetalipoproteinemia Malabsorption Abnormality of movement Retinal degeneration Hepatic failure Peripheral demyelination Abnormality of retinal pigmentation Reduced tendon reflexes Abnormality of the coagulation cascade Acanthocytosis Fat malabsorption Hypocholesterolemia Decreased LDL cholesterol concentration Abnormality of the endocrine system IgE deficiency Hashimoto thyroiditis Uveitis Viral hepatitis Porphyrinuria Hyperpigmentation in sun-exposed areas Lymphadenopathy Vasculitis Eosinophilia Urticaria Glomerulonephritis Increased antibody level in blood Petechiae Antinuclear antibody positivity Congenital hypoplastic anemia Multiple myeloma Generalized edema Extramedullary hematopoiesis Lymphocytosis Chronic noninfectious lymphadenopathy Increased IgA level Follicular hyperplasia Reduced delayed hypersensitivity Increased IgG level Cervical lymphadenopathy Rheumatoid factor positive Facial hypertrichosis Alcoholism Platelet antibody positive Abnormal blistering of the skin Sinusitis Psoriasiform dermatitis Squamous cell carcinoma Recurrent sinusitis Bronchiolitis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Alopecia Erythema Cirrhosis Sudden cardiac death Cutaneous photosensitivity Anemia of inadequate production Hypertrichosis Thin skin Hyperpigmentation of the skin Generalized hirsutism Cerebral palsy Hypopigmented skin patches Skin vesicle Fragile skin Scleroderma Atypical scarring of skin Onycholysis Coombs-positive hemolytic anemia Decreased lymphocyte apoptosis Pulmonary embolism Diabetes mellitus Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Impaired memory B cell generation Short stature Congestive heart failure Dilatation Delayed skeletal maturation Recurrent respiratory infections Hypothyroidism Sclerosing cholangitis Osteopenia Delayed puberty Eczema Pulmonary arterial hypertension Bronchiectasis Type I diabetes mellitus Abnormal intestine morphology Recurrent upper respiratory tract infections Patent foramen ovale Inflammation of the large intestine Thyroiditis Cholangiocarcinoma Dysgammaglobulinemia Antineutrophil antibody positivity Decreased antibody level in blood Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Intermediate uveitis Seizures Failure to thrive Cognitive impairment Dysarthria Weight loss Neurodegeneration Neutropenia Choreoathetosis Chronic hepatitis Clumsiness Involuntary movements Recurrent bacterial infections IgA deficiency IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis IgM deficiency Chronic disseminated intravascular coagulation



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