Hyperreflexia, and Congenital cataract

Diseases related with Hyperreflexia and Congenital cataract

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

Top matches:

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-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

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

Other less relevant matches:

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Medium match DPAGT1-CDG

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Top 5 symptoms//phenotypes associated to Hyperreflexia and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Tremor Muscular hypotonia Strabismus Hepatomegaly Cerebellar hypoplasia Abnormality of the cerebral white matter Intellectual disability, severe Microcephaly Brisk reflexes Abnormal cerebellum morphology Cerebral cortical atrophy Low anterior hairline Micrognathia Optic atrophy Growth delay Muscular hypotonia of the trunk Babinski sign Scoliosis Ataxia Peripheral neuropathy Feeding difficulties Spasticity

Rare Symptoms - Less than 30% cases

Muscle weakness Intellectual disability, mild Dysarthria Cognitive impairment Hypoplasia of the corpus callosum Generalized myoclonic seizures Tetraplegia Motor delay Lower limb muscle weakness Rod-cone dystrophy Apnea Retinopathy Exotropia Cerebellar vermis hypoplasia Pigmentary retinopathy Clonus Coarse facial features Mandibular prognathia Blindness Visual impairment Hearing impairment Gait ataxia Sensorineural hearing impairment Postnatal microcephaly Developmental regression Postnatal growth retardation Osteopenia Autism Truncal titubation Titubation Cryptorchidism Abnormal pyramidal sign Ventriculomegaly Clinodactyly of the 5th finger Dilatation Cerebral atrophy Corneal opacity Poor speech Flexion contracture Abnormality of the kidney Apraxia Limb ataxia Calcaneovalgus deformity Poor head control Dermal translucency Neurological speech impairment Small foramen magnum Pulmonic stenosis Synophrys Anemia Hypopigmentation of the skin Abnormality of movement Unsteady gait Hypertonia Involuntary movements High, narrow palate Respiratory insufficiency Clinodactyly Coloboma Skin dimples Aggressive behavior Progressive microcephaly Elevated hepatic transaminase Spinal canal stenosis Finger clinodactyly Infantile spasms Inverted nipples Hypoproteinemia Type I transferrin isoform profile Single transverse palmar crease Premature skin wrinkling Ptosis Jaundice Downslanted palpebral fissures Anteverted nares Cerebellar atrophy Absent speech Reduced visual acuity Neonatal hypotonia Reduced antithrombin III activity Brachycephaly Slurred speech Thick vermilion border Ankle clonus Labial hypoplasia Clitoral hypoplasia Shallow anterior chamber Hypoplastic labia minora Frontoparietal polymicrogyria Constipation Myoclonus Gastroesophageal reflux Skeletal dysplasia Hypertrophic cardiomyopathy Severe global developmental delay Vertigo Generalized-onset seizure Cortical dysplasia Cardiomegaly Lymphedema Cerebral visual impairment Recurrent pneumonia Generalized amyotrophy Vegetative state Psychomotor deterioration Diffuse white matter abnormalities Vascular skin abnormality Angiokeratoma Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria External genital hypoplasia Spastic diplegia Bilateral ptosis Microphthalmia Postural tremor Mask-like facies Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Frontal cortical atrophy Short nose Hypogonadism Scrotal hypoplasia Delayed cranial suture closure Micropenis Macrotia Kyphoscoliosis Blepharophimosis Peripheral axonal neuropathy Polymicrogyria Downturned corners of mouth Microcornea Decreased testicular size Spastic tetraplegia Intellectual disability, profound Hypertrichosis Narrow palate Reduced subcutaneous adipose tissue Fundus atrophy Unilateral renal agenesis Pollakisuria Spastic gait Horizontal nystagmus Urinary urgency Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Enlarged cisterna magna Corpus callosum atrophy Spastic dysarthria Low back pain Lower limb pain Lower limb hypertonia Anarthria Psychosis Hyperreflexia in upper limbs Abnormality of the dorsal column of the spinal cord Abnormality of pain sensation Dysmetria Paresthesia Distal sensory impairment Hypotension Epidermal acanthosis Hypertriglyceridemia Abnormality of the face Insulin resistance Pancreatitis Mitral regurgitation Memory impairment Hyperlipidemia Cerebral hypomyelination Intellectual disability, moderate Polyneuropathy Intention tremor Leukodystrophy CNS hypomyelination Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Onion bulb formation Motor polyneuropathy Lower limb amyotrophy Loss of ability to walk Cerebral white matter atrophy Urinary incontinence Progressive cataract Edema Polydactyly Cerebral calcification Progressive neurologic deterioration Ectopic kidney Cystic renal dysplasia Pes cavus Dementia Falls Postural instability Muscle cramps Acanthosis nigricans Hypercholesterolemia Adducted thumb Hernia Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Eye poking Hyperthreoninuria Hyperthreoninemia Low-set ears Intrauterine growth retardation Macrocephaly Frontal bossing Talipes equinovarus Inguinal hernia Severe vision loss Prominent forehead Protruding ear Autistic behavior Broad forehead Hip dislocation Triangular face Oligohydramnios Thin skin Wormian bones Spontaneous abortion Aortic regurgitation Cutis laxa Pendular nystagmus Congenital blindness Lipodystrophy Short philtrum Glucose intolerance Orthostatic hypotension Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Decreased adipose tissue around neck Hypertelorism Abnormality of the skeletal system Visual loss Thin upper lip vermilion Photophobia Abnormality of the eye Hypermetropia Hyperactive deep tendon reflexes Talipes Retinal degeneration Retinal dystrophy Narrow forehead Encephalocele Abnormality of retinal pigmentation Cone/cone-rod dystrophy Abnormal electroretinogram Hemiplegia/hemiparesis Abnormality of neuronal migration High hypermetropia Keratoconus Increased urinary O-linked sialopeptides


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