Leukemia, and Polycystic kidney dysplasia

Diseases related with Leukemia and Polycystic kidney dysplasia

In the following list you will find some of the most common rare diseases related to Leukemia and Polycystic kidney dysplasia that can help you solving undiagnosed cases.


Top matches:

Medium match PEUTZ-JEGHERS SYNDROME; PJS


Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

Low match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

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Other less relevant matches:

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS


Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS Is also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|chromosome 16p13.3 deletion syndrome, distal

Related symptoms:

  • Abnormality of the kidney
  • Renal cyst
  • Multicystic kidney dysplasia
  • Polycystic kidney dysplasia
  • Renal angiomyolipoma


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS

Low match CUTIS MARMORATA TELANGIECTATICA CONGENITA


Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

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 CAROLI DISEASE


Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

Low match FAMILIAL CEREBRAL SACCULAR ANEURYSM


Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry AneurysmIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.Other mapped loci for intracranial berry aneurysm include ANIB2 (OMIM ) on chromosome 19q13, ANIB3 (OMIM ) on 1p36.13-p34.3, ANIB4 (OMIM ) on 5p15.2-14.3, ANIB5 (OMIM ) on Xp22, ANIB6 (OMIM ) on 9p21, ANIB7 (OMIM ) on 11q24-q25, ANIB8 (OMIM ) on 14q23, ANIB9 (OMIM ) on 2q, ANIB10 (OMIM ) on 8q, and ANIB11 (OMIM ) on 8p22.

FAMILIAL CEREBRAL SACCULAR ANEURYSM Is also known as aneurysmal subarachnoid hemorrhage, familial|familial intracranial saccular aneurysm|familial berry aneurysm

Related symptoms:

  • Seizures
  • Hypertension
  • Dilatation
  • Abnormality of the kidney
  • Coarctation of aorta


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL CEREBRAL SACCULAR ANEURYSM

Top 5 symptoms//phenotypes associated to Leukemia and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Leukemia and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Nephroblastoma Global developmental delay Hypertension Growth delay Micrognathia Melanoma Short stature Microcephaly Hypertelorism Cleft palate Cataract Ventriculomegaly Downslanted palpebral fissures Intrauterine growth retardation Hydrocephalus Intestinal polyposis Microphthalmia Clinodactyly Postnatal growth retardation Multicystic kidney dysplasia Ascites Generalized hypotonia High forehead Depressed nasal bridge Epicanthus Ventricular septal defect Wide nasal bridge Dilatation Carcinoma

Rare Symptoms - Less than 30% cases


Acute lymphoblastic leukemia Glaucoma Multiple cafe-au-lait spots Cafe-au-lait spot Oligohydramnios Corneal opacity Abnormality of the upper limb Craniosynostosis Hemangioma Brachycephaly Subvalvular aortic stenosis Posteriorly rotated ears Patent ductus arteriosus Hypospadias Syndactyly Malar flattening Atrial septal defect Short neck Intestinal obstruction Cryptorchidism Renal cell carcinoma Severe intrauterine growth retardation Deeply set eye Triangular mouth Small for gestational age Edema Rhabdomyosarcoma Myelodysplasia Premature chromatid separation Ambiguous genitalia Dandy-Walker malformation Wide nose Muscular dystrophy Muscular hypotonia Epidermoid cyst Cognitive impairment Frontal bossing Abnormality of cardiovascular system morphology Short nose Abdominal pain Abnormal facial shape Abnormal heart morphology Nevus Hypothyroidism Cholangiocarcinoma Polyhydramnios Sarcoma Colon cancer Stomach cancer Hyperpigmentation of the skin Biliary tract abnormality Coarctation of aorta Clear cell renal cell carcinoma Horseshoe kidney Intestinal polyp Vesicoureteral reflux Pruritus Aortic dissection Retinal detachment Thick vermilion border Joint hypermobility Postaxial polydactyly Polymicrogyria Oral cleft Smooth philtrum Toe syndactyly Abnormal lung lobation Finger syndactyly Abnormality of the skin Growth hormone deficiency Overgrowth Arnold-Chiari malformation Abnormality of digit Cortical dysplasia Large for gestational age Cutis marmorata Redundant skin Reduced bone mineral density Ischemic stroke Stroke Cutis laxa Cutaneous syndactyly Abnormality of immune system physiology Shock Purpura Telangiectasia Postaxial hand polydactyly Broad forehead Abnormality of the skull Joint laxity Burkitt lymphoma Cortical tubers Retinoblastoma Papillary renal cell carcinoma Renal angiomyolipoma Cerebral berry aneurysm Fibrosarcoma Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Scoliosis Small cell lung carcinoma Cerebellar hemangioblastoma Cerebral hypoplasia Hemangioblastoma Pain Short sternum Mild microcephaly Encephalomalacia Failure to thrive Abnormality of the nervous system Increased nuchal translucency Atrioventricular canal defect Duodenal atresia Vomiting Polydactyly Abnormal aortic morphology Oculomotor nerve palsy Arrhythmia Vaginal neoplasm Renal neoplasm Obesity Abnormality of brainstem morphology Falls Hernia Lymphoma Polycythemia Macrocephaly Aplasia/Hypoplasia of the skin Arnold-Chiari type I malformation Telangiectasia of the skin Epigastric pain Leukocoria Hemimegalencephaly Portal hypertension Episodic fever Esophageal varix Cholangitis Liver abscess Displacement of the external urethral meatus Hemiparesis Atherosclerosis Short palpebral fissure Depressed nasal ridge Facial hemangioma Capillary malformation Short lower limbs Progressive macrocephaly Vascular ring Intracranial hemorrhage Apnea Triangular face Bulbous nose Long face Abnormality of skin pigmentation Dolichocephaly Blepharophimosis Abnormality of the eye Low-set, posteriorly rotated ears Cutis marmorata telangiectatica congenita Sloping forehead Clinodactyly of the 5th finger Delayed skeletal maturation Intellectual disability, mild Abnormality of the skeletal system Hearing impairment Blue nevus Acute leukemia Visual field defect Syringomyelia Transient ischemic attack Atrial flutter Aplasia/Hypoplasia of the cerebellum Hemihypertrophy Cholestasis Arteriovenous malformation Abnormality of the lower limb Large earlobe Cavum septum pellucidum Varicose veins Meningioma Megalencephaly Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Nevus flammeus Dilation of lateral ventricles Abnormality of vision Subcutaneous hemorrhage Holoprosencephaly Rhizomelia Aortic root aneurysm Finger clinodactyly Osteolysis Microretrognathia Subarachnoid hemorrhage Perisylvian polymicrogyria Dilatation of the cerebral artery Arterial stenosis Aortic regurgitation Aplasia/Hypoplasia of the corpus callosum Sleep apnea Asymmetric growth Hepatomegaly Right aortic arch Skin erosion Fever Enlarged labia minora Multiple renal cysts Multiple lipomas Medulloblastoma Thyroid carcinoma Astrocytoma Brain neoplasm Increased circulating cortisol level Neoplasm of the lung Increased number of teeth Neurofibromas Adrenocortical adenoma Agenesis of permanent teeth Chorioretinal atrophy Precocious puberty Hyperextensible skin Infertility Carious teeth Intellectual disability, moderate Glioma Papillary thyroid carcinoma Abnormality of the dentition Abdominal mass Desmoid tumors Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Multiple gastric polyps Osteoma Hepatoblastoma Fibroadenoma of the breast Colorectal polyposis Multiple impacted teeth Adrenocortical carcinoma Absent gallbladder Chondrosarcoma Thoracic kyphoscoliosis Keloids Kyphoscoliosis Precocious puberty with Sertoli cell tumor Congenital hypertrophy of retinal pigment epithelium Melanocytic nevus Abnormality of the ureter Iron deficiency anemia Ovarian neoplasm Hamartoma Macule Hypermelanotic macule Clubbing Psoriasiform dermatitis Abnormality of the mouth Growth abnormality Breast carcinoma Accelerated skeletal maturation Gynecomastia Abdominal distention Hyperhidrosis Headache Diarrhea Vitiligo Neoplasm of the pancreas Endolymphatic sac tumor Thrombophlebitis Congenital shortened small intestine Thyroid nodule Uterine neoplasm Gastrointestinal carcinoma Intussusception Testicular neoplasm Bloody diarrhea Hematemesis Clubbing of fingers Intestinal bleeding Hamartomatous polyposis Neoplasm of the breast Nasal polyposis Rectal prolapse Pancreatic cysts Ovarian cyst Multiple myeloma Duodenal polyposis Flexion contracture Combined immunodeficiency Accessory spleen Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Absent earlobe Talipes equinovalgus Aplasia of the ulna Bilateral renal agenesis Craniofacial dysostosis Midface capillary hemangioma Narrow naris Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Long penis Bicornuate uterus Eyelid coloboma Tetraphocomelia Premature separation of centromeric heterochromatin Low hanging columella Severe global developmental delay Bifid scrotum Limb-girdle muscular dystrophy Primary amenorrhea Intellectual disability, profound Amenorrhea Generalized myoclonic seizures Generalized tonic-clonic seizures Feeding difficulties in infancy Nystagmus Micropenis Upslanted palpebral fissure Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Immunodeficiency Long philtrum Anteverted nares Bilateral cleft lip and palate Bilateral cleft lip High palate Coloboma Convex nasal ridge Renal agenesis Underdeveloped nasal alae Cleft upper lip Talipes Prominent nasal bridge Short philtrum Sparse hair Encephalocele Paralysis Cleft lip Skeletal dysplasia Retrognathia Proptosis Thrombocytopenia Talipes equinovarus Brachydactyly Blue sclerae Abnormality of the genital system Upper limb undergrowth Anonychia Shallow orbits Ankle contracture Absent radius Fibular hypoplasia Oligodactyly Cystic hygroma Short femoral neck Bilateral talipes equinovarus Recurrent urinary tract infections Radial deviation of finger Clitoral hypertrophy Eosinophilia Abnormality of the metacarpal bones Cranial nerve paralysis Opacification of the corneal stroma Knee flexion contracture Elbow flexion contracture Abnormal circle of Willis morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Vomiting, related diseases and genetic alterations Hepatomegaly and Broad forehead, related diseases and genetic alterations Myopathy and Congenital cataract, related diseases and genetic alterations Cryptorchidism and Paresthesia, related diseases and genetic alterations Strabismus and Inflammation of the large intestine, related diseases and genetic alterations Ataxia and Full cheeks, related diseases and genetic alterations

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