Anemia, and Polycystic kidney dysplasia

Diseases related with Anemia and Polycystic kidney dysplasia

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


Top matches:

Medium match NEPHRONOPHTHISIS 2; NPHP2


NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Medium match MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

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

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Other less relevant matches:

Medium match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low match REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE


Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as early-onset hyperuricemia, anemia, and progressive kidney failure|ren-associated fjhn|ren-associated kidney disease|familial juvenile hyperuricemic nephropathy type 2|ren-associated familial juvenile hyperuricemic nephropathy|adtkd-ren|fjhn type 2

Related symptoms:

  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Renal cyst


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

Low match NEPHRONOPHTHISIS 4; NPHP4


NEPHRONOPHTHISIS 4; NPHP4 Is also known as nephronophthisis 4, juvenile

Related symptoms:

  • Growth delay
  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Polydipsia


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 4; NPHP4

Low match NEPHRONOPHTHISIS 11; NPHP11


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 11; NPHP11

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match NEPHRONOPHTHISIS 1; NPHP1


Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile|nph1

Related symptoms:

  • Growth delay
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHRONOPHTHISIS 1; NPHP1

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

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Tubular atrophy Common - Between 50% and 80% cases
Nephronophthisis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Polyuria

Uncommon Symptoms - Between 30% and 50% cases


Polydipsia

Common Symptoms - More than 50% cases


Nephropathy

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hypertension Renal cyst Tubulointerstitial fibrosis Renal corticomedullary cysts Global developmental delay Tubular basement membrane disintegration Dilatation Hepatic fibrosis Proteinuria Congenital hepatic fibrosis Chronic kidney disease Hyperuricemia Tubulointerstitial abnormality Gout Elevated serum creatinine Multiple small medullary renal cysts

Rare Symptoms - Less than 30% cases


Renal hypoplasia Low-set, posteriorly rotated ears Nystagmus Anteverted nares Seizures Neoplasm Ptosis Short stature Muscular hypotonia Strabismus Intellectual disability Hematuria Cerebellar vermis hypoplasia Focal segmental glomerulosclerosis Retinal degeneration Situs inversus totalis Hepatomegaly Abnormality of the liver Tubulointerstitial nephritis Nephritis Hyperechogenic kidneys Renal sodium wasting Undetectable electroretinogram Abnormality of the hypothalamus-pituitary axis Agenesis of cerebellar vermis Dilated fourth ventricle Aplasia/Hypoplasia of the cerebellar vermis Occipital meningocele Brainstem dysplasia Microcephaly Bifid uvula Postaxial foot polydactyly Hypertelorism Failure to thrive Micrognathia Cataract Cryptorchidism Flexion contracture High palate Depressed nasal bridge Epicanthus Wide nasal bridge Preaxial polydactyly Neurocytoma Foot polydactyly Chorioretinal coloboma Encephalocele Heterotopia Pachygyria Aganglionic megacolon Multicystic kidney dysplasia Intellectual disability, progressive Tachypnea Aplasia/Hypoplasia of the corpus callosum Chorioretinal degeneration Hand polydactyly Hypoplasia of the brainstem Severe vision loss Abnormality of neuronal migration Molar tooth sign on MRI Biparietal narrowing Congenital blindness Retinal dysplasia Agenesis of permanent teeth Abnormality of retinal pigmentation Abnormality of the nervous system Rod-cone dystrophy Downslanted palpebral fissures Velopharyngeal insufficiency Talipes equinovarus Fatigue Recurrent infections Supernumerary nipple Aplasia/Hypoplasia of the eyebrow Microcytic anemia Underdeveloped supraorbital ridges Postnatal growth retardation Polydactyly Protruding tongue Myelomeningocele Osteosarcoma Brain neoplasm Aplasia/Hypoplasia of the earlobes Radial deviation of finger Hypochromic microcytic anemia Asymmetry of the thorax Hypochromic anemia Intrauterine growth retardation Cognitive impairment Flat forehead Reduced alpha/beta synthesis ratio Cleft palate Hemoglobin H Anisocoria Triangular nasal tip Neutropenia Spina bifida Frontal bossing Retrognathia Short neck Respiratory distress Long philtrum Malar flattening Hernia Obesity Hypospadias Patent ductus arteriosus Micropenis High forehead Intellectual disability, moderate Short toe Pectus carinatum Microtia Broad forehead Neurological speech impairment Congenital cataract Talipes Bruising susceptibility Postaxial hand polydactyly Webbed neck Abnormality of the genital system Dental crowding Macroglossia Visual impairment Highly arched eyebrow Headache Decreased glomerular filtration rate Distal renal tubular acidosis Renal cortical cysts Flank pain Global glomerulosclerosis Pyuria Impaired renal uric acid clearance Renal cortical atrophy Edema Diarrhea Hyperhidrosis Hemihypertrophy Abdominal pain Carcinoma Abdominal distention Nevus Gynecomastia Accelerated skeletal maturation Hemangioma Breast carcinoma Growth abnormality Psoriasiform dermatitis Melanocytic nevus Thin bony cortex Renal salt wasting Intestinal obstruction Portal fibrosis Respiratory insufficiency Respiratory failure Acidosis Abnormal cardiac septum morphology Pulmonary hypoplasia Metabolic acidosis Oligohydramnios Cholestasis Hyperkalemia Enlarged kidney Cholestatic liver disease Pulmonary insufficiency Fair hair Oliguria Renal cortical microcysts Absence of renal corticomedullary differentiation Chronic tubulointerstitial nephritis Hyperkalemic metabolic acidosis Pain Cerebral cortical atrophy Hypotension Nephrolithiasis Hypercalciuria Glomerulosclerosis Clubbing Hypermelanotic macule Hepatic steatosis Behavioral abnormality Thyroid nodule Congenital shortened small intestine Endolymphatic sac tumor Precocious puberty with Sertoli cell tumor Generalized hypotonia Scoliosis Ataxia Hydrocephalus Intellectual disability, severe Blindness Abnormality of cardiovascular system morphology Gastrointestinal carcinoma Dyspnea Hepatosplenomegaly Apnea Autistic behavior Wide mouth Coloboma Prominent nasal bridge Severe global developmental delay Long face Iris coloboma Retinal dystrophy Uterine neoplasm Clear cell renal cell carcinoma Macule Intestinal polyposis Hamartoma Ovarian neoplasm Iron deficiency anemia Abnormality of the ureter Renal cell carcinoma Vitiligo Abnormality of the mouth Neoplasm of the pancreas Clubbing of fingers Multiple myeloma Ovarian cyst Pancreatic cysts Intussusception Biliary tract abnormality Rectal prolapse Nasal polyposis Neoplasm of the breast Hamartomatous polyposis Intestinal bleeding Hematemesis Thrombophlebitis Bloody diarrhea Testicular neoplasm Intestinal polyp Hyposthenuria



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