Anemia, and Nephroblastoma

Diseases related with Anemia and Nephroblastoma

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


Top matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


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

Medium match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

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Other less relevant matches:

Low match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match GLIOMA SUSCEPTIBILITY 3; GLM3


Related symptoms:

  • Seizures
  • Neoplasm
  • Cryptorchidism
  • Leukemia
  • Cafe-au-lait spot


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 3; GLM3

Low match WILMS TUMOR 5; WT5


WILMS TUMOR 5; WT5 Is also known as wilms tumor, susceptibility to|wtsl

Related symptoms:

  • Nephroblastoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about WILMS TUMOR 5; WT5

Low match WILMS TUMOR 6; WT6


WILMS TUMOR 6; WT6 Is also known as wilms tumor, susceptibility to

Related symptoms:

  • Nephroblastoma


SOURCES: OMIM MENDELIAN

More info about WILMS TUMOR 6; WT6

Low match WILMS TUMOR 2; WT2


Related symptoms:

  • Neoplasm
  • Nephroblastoma


SOURCES: OMIM MESH MENDELIAN

More info about WILMS TUMOR 2; WT2

Top 5 symptoms//phenotypes associated to Anemia and Nephroblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Rare - less than 30% cases
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Other less frequent symptoms

Patients with Anemia and Nephroblastoma. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Carcinoma Prominent nose Hypothyroidism Autism Embryonal neoplasm Medulloblastoma Renal neoplasm Cryptorchidism Neuroblastoma Microcephaly Cafe-au-lait spot Polycythemia Leukemia Intellectual disability Abnormality of cardiovascular system morphology Failure to thrive Epicanthus Large fontanelles Nephrolithiasis Wide mouth Neurological speech impairment Poor speech Nephropathy Long face Omphalocele Premature birth Cardiomegaly Macroglossia Congenital diaphragmatic hernia Vesicoureteral reflux Hypertrophic cardiomyopathy Feeding difficulties in infancy Hyperactivity Hypoglycemia Cleft palate Retinoblastoma Papillary renal cell carcinoma Fibrosarcoma Burkitt lymphoma Clear cell renal cell carcinoma Small cell lung carcinoma Cerebellar hemangioblastoma Hemangioblastoma Generalized hypotonia Hepatomegaly Umbilical hernia Macrocephaly Splenomegaly Midface retrusion Inguinal hernia Wide anterior fontanel Proptosis Mandibular prognathia Polyhydramnios Coarse facial features Tall stature Large for gestational age Accelerated skeletal maturation Posterior helix pit Anterior creases of earlobe Hepatoblastoma Elevated alpha-fetoprotein Leiomyosarcoma Urogenital fistula Facial hemangioma Adrenocortical carcinoma Infra-orbital crease Branchial cyst Large placenta Asymmetric growth Congenital megaureter Abnormality of pancreas morphology Adrenocortical cytomegaly Abnormality of the shape of the midface Large intestinal polyposis Subchorionic septal cyst Acute lymphoblastic leukemia Astrocytoma Glioblastoma multiforme Choroideremia Abnormality of earlobe Sleep apnea Enlarged kidney Arnold-Chiari malformation Relative macrocephaly Hypercalciuria Redundant skin Melanocytic nevus Prominent occiput Neurodevelopmental delay Prominent metopic ridge Exocrine pancreatic insufficiency Neonatal hypoglycemia Pseudohypoparathyroidism Nevus flammeus Multiple renal cysts Diastasis recti Hemihypertrophy Gonadoblastoma Visceromegaly Ureteral duplication Rhabdomyosarcoma Otosclerosis Renal cell carcinoma Decreased skull ossification Melanoma Hemiplegia Irritability Nausea and vomiting Lymphadenopathy Hematuria Subcutaneous nodule Cranial nerve paralysis Cerebral palsy Sarcoma Hypercalcemia Abdominal pain Ovarian neoplasm Poor appetite Neoplasm of the liver Oculomotor nerve palsy Teratoma Neoplasm of the central nervous system Internal hemorrhage Global developmental delay Weight loss Thrombocytopenia Nystagmus Hyperpigmentation of the skin Hypertelorism Ventricular septal defect Short neck Atrial septal defect Postnatal growth retardation Small for gestational age Anal atresia Short thumb Bone marrow hypocellularity Headache Acute myeloid leukemia Chromosome breakage Aplastic anemia Acute monocytic leukemia Chromosomal breakage induced by crosslinking agents Pain Fever Respiratory insufficiency Hydrocephalus Hearing impairment Micrognathia Lymphoma Turricephaly Broad nasal tip Underdeveloped nasal alae Abnormality of the genital system Wormian bones Cutaneous syndactyly Sparse eyebrow Self-injurious behavior Aniridia Exostoses Downturned corners of mouth Depressed nasal tip Sparse lateral eyebrow Craniofacial dysostosis Congenital ptosis Parietal foramina Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Falls Renal cyst Single transverse palmar crease Delayed puberty Strabismus Downslanted palpebral fissures Sensorineural hearing impairment Abnormal facial shape Muscular hypotonia Cataract Ptosis Brachydactyly Wide nasal bridge Myopia Behavioral abnormality Broad forehead Short nose Syndactyly Brachycephaly Micropenis High forehead Telecanthus Autistic behavior Short philtrum Prominent nasal bridge Few cafe-au-lait spots



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Small for gestational age, related diseases and genetic alterations Fever and Arthrogryposis multiplex congenita, related diseases and genetic alterations Skeletal muscle atrophy and Constipation, related diseases and genetic alterations Obesity and Abnormal cerebellum morphology, related diseases and genetic alterations Cleft palate and Difficulty walking, related diseases and genetic alterations

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