Global developmental delay, and Stage 5 chronic kidney disease

Diseases related with Global developmental delay and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Global developmental delay and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.

Top matches:

High match PIERSON SYNDROME

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 11; NPHP11

Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertension
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

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

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.

Related symptoms:

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Abnormality of the skeletal system
  • Obesity


SOURCES: OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME 9; SLSN9

BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Top 5 symptoms//phenotypes associated to Global developmental delay and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Nephronophthisis Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Abnormality of the liver Retinal degeneration Hepatic fibrosis Rod-cone dystrophy Nystagmus Nephrotic syndrome Muscular hypotonia Proteinuria Cholestasis

Rare Symptoms - Less than 30% cases

Seizures Cerebellar vermis hypoplasia Abnormality of the kidney Retinal dystrophy Renal cyst Apraxia Polydactyly Obesity Oculomotor apraxia Short stature Thickened superior cerebellar peduncle Microcephaly Abnormal facial shape Spasticity Cerebral atrophy Arachnodactyly Glomerulosclerosis Focal segmental glomerulosclerosis Hyperechogenic kidneys Hypogonadism Nephritis Tubulointerstitial nephritis Molar tooth sign on MRI Hypertelorism Hepatomegaly Blindness Polyuria Polydipsia Anemia Strabismus Visual impairment Hypertension Diffuse mesangial sclerosis Severe muscular hypotonia Oliguria Areflexia Portal fibrosis Cholestatic liver disease Tubulointerstitial abnormality Renal cortical microcysts Pulmonary insufficiency Enlarged kidney Elevated serum creatinine Pulmonary hypoplasia Enlarged fossa interpeduncularis Respiratory insufficiency Dilatation Respiratory failure Acidosis Abnormal cardiac septum morphology Nephropathy Chronic tubulointerstitial nephritis Metabolic acidosis Oligohydramnios Situs inversus totalis Polycystic kidney dysplasia Abnormality of the nervous system Hyperkalemia Absence of renal corticomedullary differentiation Delayed speech and language development Hyperkalemic metabolic acidosis Cognitive impairment External genital hypoplasia Tricuspid regurgitation Renal dysplasia Recurrent otitis media Renal agenesis Asthma Hepatic steatosis Respiratory tract infection Conductive hearing impairment Recurrent respiratory infections Respiratory distress Hypoplasia of the femoral head Visual loss Macular degeneration Pigmentary retinopathy Retinopathy Pallor Edema Abnormality of the skeletal system Tapered finger Polymicrogyria Macrotia Cerebellar hypoplasia Feeding difficulties Micrognathia Elongated superior cerebellar peduncle Abnormal retinal morphology Bile duct proliferation Acholic stools Agenesis of cerebellar vermis Central apnea Retinal coloboma Congenital blindness Posterior lenticonus Hypoplasia of the ciliary body Growth delay Tubular atrophy Congenital hepatic fibrosis Anisocoria Renal corticomedullary cysts Sclerosing cholangitis Renal cortical cysts Ureteral duplication Cholangitis Biliary cirrhosis Portal hypertension Shock Decreased liver function Tubular basement membrane disintegration Vesicoureteral reflux Cirrhosis Pruritus Elevated hepatic transaminase Jaundice Tapetoretinal degeneration Aplasia/Hypoplasia of the cerebellar vermis Breathing dysregulation Peripheral demyelination Splenomegaly Chorioretinal coloboma Abnormality of eye movement Coloboma Abnormality of the eye Intellectual disability, moderate Intellectual disability, severe Motor delay Neurodevelopmental delay Severe vision loss Pachygyria Brain atrophy Episodic tachypnea Hypoplasia of the iris Deeply set eye Mandibular prognathia Hypoproteinemia Ventriculomegaly Epicanthus Buphthalmos Congenital nephrotic syndrome Lenticonus Microcoria Neonatal breathing dysregulation Impaired renal concentrating ability Bronchiolitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Joint hyperflexibility, related diseases and genetic alterations Myopia and EEG abnormality, related diseases and genetic alterations Hepatomegaly and Microcornea, related diseases and genetic alterations Macrocephaly and Abnormality of the liver, related diseases and genetic alterations Strabismus and Umbilical hernia, related diseases and genetic alterations Micrognathia and Coloboma, related diseases and genetic alterations