Cataract, and Renal cyst

Diseases related with Cataract and Renal cyst

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


Top matches:

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

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Other less relevant matches:

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match HANAC SYNDROME


Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Low match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Top 5 symptoms//phenotypes associated to Cataract and Renal cyst

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Rod-cone dystrophy Strabismus Visual impairment Hearing impairment Nystagmus Ataxia Sensorineural hearing impairment Hydrocephalus Nephropathy Dilatation

Rare Symptoms - Less than 30% cases


Multicystic kidney dysplasia Posterior embryotoxon Cerebral hemorrhage Visual field defect Hemiplegia Perivascular spaces Ischemic stroke Anemia Elevated serum creatine phosphokinase Leukoencephalopathy Arrhythmia Muscle cramps Cerebellar atrophy Hematuria Stroke Microphthalmia Visual loss Nyctalopia Hypoplasia of the iris Nephritis Peripheral neuropathy Cryptorchidism Spasticity Stage 5 chronic kidney disease Retinal degeneration Ventriculomegaly Edema Cerebellar hypoplasia Polydactyly Blindness Progressive visual loss Hypertension Cystic renal dysplasia Multiple renal cysts Cognitive impairment Chronic kidney disease Dysarthria Babinski sign Short stature Hydronephrosis Joint hyperflexibility Exudative retinopathy Joint laxity Proteinuria Confusion Gliosis Retinal detachment Abnormality of the genital system Renal hypoplasia Vesicoureteral reflux Reduced visual acuity Myopia Glaucoma Coloboma Tubulointerstitial nephritis Multiple small medullary renal cysts Polyuria Nausea Retinal dystrophy Involuntary movements Abnormality of retinal pigmentation Hepatic fibrosis Incoordination Polydipsia Premature ovarian insufficiency Cone-shaped epiphysis Diabetes insipidus Azotemia Nephronophthisis High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Nephrolithiasis Platybasia Horseshoe kidney Leukodystrophy Cardiomyopathy Congestive heart failure Hyporeflexia Pes cavus Neonatal hypotonia Limb muscle weakness Ichthyosis Polyneuropathy Sensory impairment Pigmentary retinopathy Cardiomegaly Sensorimotor neuropathy Delayed speech and language development Progressive hearing impairment Anosmia Bilateral ptosis Epiphyseal dysplasia Epiphyseal stippling Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Short fourth metatarsal Hyperoxaluria Wide nasal bridge Ptosis Macular degeneration High-frequency hearing impairment Abnormality of the genitourinary system Hyperextensible skin Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Abnormality of the vasculature Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma Ureteropelvic junction obstruction Ureterovesical junction obstruction Pyelonephritis Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Morning glory anomaly Orbital cyst Macular hyperpigmentation Recurrent pyelonephritis Hypermetropia Limb dystonia Retinopathy Microscopic hematuria Distal lower limb amyotrophy Distal lower limb muscle weakness Lower limb hypertonia Hydrometrocolpos Hyperesthesia Abnormality of metabolism/homeostasis Flexion contracture Headache Dilatation of the cerebral artery Raynaud phenomenon Lower limb hyperreflexia Supraventricular arrhythmia Retinal vascular tortuosity Retinal hemorrhage Arterial tortuosity Macroscopic hematuria Retinal arteriolar tortuosity Retinal arterial tortuosity Micrognathia Optic atrophy Agenesis of corpus callosum Ankle clonus Macular dystrophy Polyhydramnios Gait disturbance Hyperreflexia Hepatomegaly Abnormality of the cerebral white matter Congenital cataract Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Growth delay Motor delay Obesity Urinary urgency Hypogonadism Rigidity Postaxial polydactyly Bradykinesia Frequent falls Lower limb spasticity Spastic gait Cone/cone-rod dystrophy Impaired vibratory sensation Toe walking Narrow mouth Microtia Scarring Porencephalic cyst Drooling Intracranial hemorrhage Dysphasia Cortical dysplasia Opisthotonus Restlessness Transient ischemic attack Facial paralysis Nuclear cataract Stroke-like episode Primitive reflex Exotropia Hemianopia Pontocerebellar atrophy Schizencephaly Spastic hemiparesis Antenatal intracerebral hemorrhage Fatigue Abnormality of the skeletal system Vomiting Weight loss Photophobia Cerebral palsy Hemiparesis Anal atresia Aplasia/Hypoplasia of the nipples Oral cleft Iris coloboma Microcornea Abnormality of the ribs Abnormal lung lobation Aplasia/Hypoplasia of the lungs Missing ribs Tracheal stenosis Abnormality of the larynx Vaginal atresia Abnormally ossified vertebrae Tetraparesis Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Tetraamelia Aplasia/Hypoplasia involving the pelvis Hypertonia Dystonia Abnormal pyramidal sign Polymicrogyria Hemolytic anemia Mitral valve prolapse Elevated levels of phytanic acid



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