Cataract, and Urinary incontinence

Diseases related with Cataract and Urinary incontinence

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


Top matches:

Low match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME


Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A


Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A Is also known as spg5a

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Low match POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME


Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Cataract and Urinary incontinence

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Urinary incontinence. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Dysarthria Gait disturbance Spastic paraplegia Paraplegia Tremor Dementia Sensorineural hearing impairment Peripheral neuropathy Impaired vibration sensation in the lower limbs Cerebral atrophy Impaired vibratory sensation Spastic gait Seizures Pes cavus Abnormal cerebellum morphology Optic atrophy Memory impairment Global developmental delay Lower limb muscle weakness Mental deterioration Short stature Limb ataxia Corpus callosum atrophy Spastic paraparesis Lower limb spasticity Polyneuropathy Urinary urgency Gait ataxia Unsteady gait Congenital cataract Microcephaly Difficulty walking Skeletal muscle atrophy Broad-based gait Cognitive impairment Psychosis Paraparesis Cerebral cortical atrophy Scoliosis Growth delay

Rare Symptoms - Less than 30% cases


Limb dysmetria Neutropenia Visual loss Spastic dysarthria Visual impairment Ankle clonus Dysphagia Generalized hypotonia Aciduria Truncal ataxia Cerebellar atrophy Depressivity Upper limb dysmetria Sensory neuropathy Dysmetria Progressive cerebellar ataxia Head tremor Gastroesophageal reflux Upper limb spasticity Atrophy of the spinal cord Metabolic acidosis Muscle cramps Pigmentary retinopathy Vomiting Intellectual disability, mild Areflexia Failure to thrive Abnormal facial shape Delayed speech and language development Motor delay Kyphosis Tetraplegia Acidosis Lower limb hyperreflexia Recurrent urinary tract infections Limb muscle weakness Abnormality of movement Confusion Abnormal pyramidal sign Primitive reflex Impaired vibration sensation at ankles Hyperreflexia in upper limbs Pollakisuria Anemia Muscular hypotonia Low-set ears Myopathy Cardiomyopathy Hepatomegaly Abnormal sensory nerve conduction velocity Hypertension Abnormality of peripheral nerves Feeding difficulties Ring scotoma Respiratory insufficiency Flexion contracture of finger Hydrocephalus Neurodegeneration Intellectual disability, severe Congestive heart failure Dystonia Coma Dilated cardiomyopathy Skeletal myopathy Severe global developmental delay Choreoathetosis Spastic tetraparesis Hypoglycemia Spastic tetraplegia Leukoencephalopathy Athetosis Short attention span Abnormality of the basal ganglia Recurrent infections Hyperactivity Progressive visual loss 3-Methylglutaconic aciduria Febrile seizures Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Encephalopathy Renal insufficiency Hematuria Thrombocytopenia Chronic hemolytic anemia Disproportionate tall stature Thromboembolism Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Right ventricular failure Hemolytic-uremic syndrome Methylmalonic acidemia Abnormality of macular pigmentation Ectopia lentis Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Apathy Hemiplegia Weight loss Retinal degeneration Reduced visual acuity High forehead Macrotia Arthritis Proteinuria Feeding difficulties in infancy Retinopathy Hip dislocation Lethargy Malabsorption Smooth philtrum Paresthesia Abnormality of skin pigmentation Slurred speech Long face Joint hypermobility Hemolytic anemia Nephropathy Abnormality of the spinal cord Hepatic steatosis Abnormality of extrapyramidal motor function Pancytopenia Pulmonary arterial hypertension Anorexia Abnormality of retinal pigmentation Atherosclerosis Truncal titubation Clinodactyly Decreased sensory nerve conduction velocity Resting tremor Lower limb pain Lower limb hypertonia Anarthria Abnormality of the dorsal column of the spinal cord Abnormality of pain sensation Diabetes mellitus Abnormality of the nervous system Neuronal loss in central nervous system Lymphedema Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Enlarged cisterna magna Abnormality of the cerebrospinal fluid Excessive daytime sleepiness Narcolepsy Cataplexy Pseudobulbar signs Predominantly lower limb lymphedema Dilated third ventricle Distal sensory impairment Sensory impairment Abnormality of the urinary system Upper limb muscle weakness Low back pain Horizontal nystagmus Diffuse white matter abnormalities Kyphoscoliosis Headache Photophobia Dry skin Migraine Bilateral sensorineural hearing impairment Progressive hearing impairment Progressive sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Absent speech Foot dorsiflexor weakness Mitral regurgitation Postural tremor Toe walking Abnormality of the periventricular white matter Loss of speech Mild microcephaly Absent Achilles reflex Urinary retention Pseudobulbar paralysis Impaired continence Falls Postural instability Lower limb amyotrophy Hyperintensity of cerebral white matter on MRI Positive Romberg sign Bowel incontinence Chorioretinal dystrophy Dysfunction of lateral corticospinal tracts Blindness Rod-cone dystrophy Camptodactyly Distal muscle weakness Nyctalopia Joint contracture of the hand Delayed gross motor development Osteomyelitis Axonal degeneration Abnormal upper motor neuron morphology Scotoma Undetectable electroretinogram Achalasia Acanthocytosis Bone spicule pigmentation of the retina Impaired proprioception Gastrointestinal dysmotility Decreased number of large peripheral myelinated nerve fibers Chronic pain Sensory ataxia Titubation Shallow acetabular fossae Carpal bone hypoplasia Upper limb amyotrophy Abnormal sperm morphology Impaired distal proprioception Flexion contracture Hypoplasia of the corpus callosum Infertility Peripheral axonal neuropathy Decreased testicular size Brisk reflexes Progressive spastic paraplegia Reduced sperm motility Knee clonus Jerky ocular pursuit movements Abnormal tendon morphology Motor polyneuropathy Sperm head anomaly Myopia Abnormality of the skeletal system Hernia Delayed skeletal maturation Specific learning disability Abnormality of pelvic girdle bone morphology Generalized amyotrophy Progressive spasticity Hiatus hernia Short 5th finger Thyroglossal cyst



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Spastic tetraplegia, related diseases and genetic alterations Motor delay and Alopecia, related diseases and genetic alterations Fever and Hyperactivity, related diseases and genetic alterations Peripheral neuropathy and Edema, related diseases and genetic alterations Cleft palate and Nail dystrophy, related diseases and genetic alterations

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