Microphthalmia, and Abnormality of the kidney

Diseases related with Microphthalmia and Abnormality of the kidney

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


Top matches:

Low match MICROPHTHALMIA, ISOLATED 2; MCOP2


MICROPHTHALMIA, ISOLATED 2; MCOP2 Is also known as anophthalmia, clinical, isolated

Related symptoms:

  • Microphthalmia
  • Hydronephrosis
  • Tracheoesophageal fistula
  • Esophageal atresia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 2; MCOP2

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Other less relevant matches:

Low match HYPERGLYCINURIA


The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MECKEL SYNDROME, TYPE 5; MKS5


Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

Low match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Low match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Low match MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Top 5 symptoms//phenotypes associated to Microphthalmia and Abnormality of the kidney

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Abnormality of the kidney. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Encephalocele Renal cyst Anencephaly Bile duct proliferation Intrauterine growth retardation Bowing of the long bones Coloboma

Rare Symptoms - Less than 30% cases


Strabismus Cleft upper lip Cleft lip Cataract Dandy-Walker malformation Postaxial foot polydactyly Meningocele Molar tooth sign on MRI Renal hypoplasia Microcephaly Meningoencephalocele Intellectual disability Growth delay Global developmental delay Short stature Generalized hypotonia Blindness Neural tube defect Hyperactivity Cerebellar hypoplasia Bilateral cleft lip and palate Bilateral cleft lip Absent speech Neurological speech impairment Aggressive behavior Cortical gyral simplification Renal dysplasia Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Ventricular septal defect Small cerebral cortex Hyperechogenic kidneys Optic nerve hypoplasia Attention deficit hyperactivity disorder Delayed gross motor development Spastic tetraparesis Tetraparesis Poor speech Abnormality of the foot Severe global developmental delay Chorioretinal coloboma Posterior embryotoxon Hearing impairment Retinal detachment Foot polydactyly Tracheoesophageal fistula Esophageal atresia Seizures Hypertension Tachycardia Syncope Nephrolithiasis Glycosuria Hyperglycinuria Calcium oxalate nephrolithiasis Paroxysmal tachycardia Abnormal facial shape Syndactyly Retinal dysplasia Hematuria Undetectable electroretinogram Abnormality of the urinary system Hydronephrosis Nystagmus Sensorineural hearing impairment Ptosis Visual impairment Optic atrophy Glaucoma Corneal opacity Oral cleft Iris coloboma Agenesis of cerebellar vermis



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