Neoplasm, and Polyhydramnios

Diseases related with Neoplasm and Polyhydramnios

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


Top matches:

Low match GLIOMA SUSCEPTIBILITY 1; GLM1


Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

Low match PANCYTOPENIA DUE TO IKZF1 MUTATIONS


Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Low match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6


Related symptoms:

  • Flexion contracture
  • Macrocephaly
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6

Low match CONGENITAL SODIUM DIARRHEA


Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.

CONGENITAL SODIUM DIARRHEA Is also known as diarrhea, congenital sodium|csd|na-h exchange deficiency

Related symptoms:

  • Vomiting
  • Diarrhea
  • Acidosis
  • Polyhydramnios
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SODIUM DIARRHEA

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5


Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).

Related symptoms:

  • Polyhydramnios
  • Premature birth
  • Nephrocalcinosis
  • Hypercalciuria
  • Hypokalemia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5

Low match HADDAD SYNDROME


Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11


Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

Top 5 symptoms//phenotypes associated to Neoplasm and Polyhydramnios

Symptoms // Phenotype % cases
Decreased fetal movement Uncommon - Between 30% and 50% cases
Flexion contracture Rare - less than 30% cases
Abdominal distention Rare - less than 30% cases
Hydroureter Rare - less than 30% cases
Oligohydramnios Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Neoplasm and Polyhydramnios. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Multicystic kidney dysplasia Congenital contracture Hydrocephalus Arthrogryposis multiplex congenita Dandy-Walker malformation Macrocephaly Hypokalemia Hypercalciuria Nephrocalcinosis Premature birth Severe hydrocephalus Hydranencephaly Preeclampsia Holoprosencephaly Brain atrophy Vomiting Cerebellar hypoplasia Ventriculomegaly Abnormal facial shape Hyponatremia Bloody diarrhea Inflammation of the large intestine Intestinal obstruction Metabolic acidosis Acidosis Diarrhea Secretory diarrhea Polyuria Small for gestational age Bilateral talipes equinovarus Akinesia Pulmonary hypoplasia Camptodactyly Retrognathia Talipes equinovarus Ganglioneuroma Central sleep apnea Central hypoventilation Breathing dysregulation Neuroblastoma Abnormal autonomic nervous system physiology Aganglionic megacolon Gastroesophageal reflux Renal sarcoma Muscular hypotonia Sensorineural hearing impairment Strabismus Failure to thrive Seizures Intellectual disability Medullary nephrocalcinosis Fetal polyuria Hypochloremia Hypokalemic alkalosis Increased circulating renin level Alkalosis Renal salt wasting Hyperaldosteronism Ureterocele Congenital megaureter Immunodeficiency Abnormality of cardiovascular system morphology Cryptorchidism B lymphocytopenia Acute lymphoblastic leukemia Recurrent bacterial infections Aspiration Lymphopenia Pancytopenia Decreased antibody level in blood Leukemia Thrombocytopenia Recurrent infections Edema Nausea and vomiting Anemia Choroid plexus papilloma Ependymoma Glioblastoma multiforme Papilloma Schwannoma Glioma Astrocytoma Brain neoplasm Neurofibromas Growth abnormality Melanoma Umbilical hernia Sepsis Bilateral renal dysplasia Renal agenesis Flank pain Renal duplication Ureteropelvic junction obstruction Cystic renal dysplasia Cerebral hemorrhage Sarcoma Abnormality of the urinary system Recurrent urinary tract infections Renal dysplasia Renal hypoplasia Nephrotic syndrome Abnormality of the cardiovascular system Vesicoureteral reflux Intestinal malrotation Hematuria Nephropathy Abnormality of the kidney Hydronephrosis Renal insufficiency Pain Neoplasm of the heart Hypoperistalsis Megacystis Microcolon Abnormality of the gastrointestinal tract Omphalocele Fetal akinesia sequence



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Short distal phalanx of finger, related diseases and genetic alterations Arthritis and Osteosarcoma, related diseases and genetic alterations Microphthalmia and Respiratory tract infection, related diseases and genetic alterations Congestive heart failure and Anxiety, related diseases and genetic alterations Optic atrophy and Thin vermilion border, related diseases and genetic alterations Hypertension and Autism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more