Ataxia, and Congenital cataract

Diseases related with Ataxia and Congenital cataract

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


Top matches:

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Medium match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


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

Medium match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


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

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


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

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Medium match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Medium match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Cerebellar atrophy Cerebral atrophy Peripheral neuropathy Motor delay Generalized hypotonia Dysarthria Cognitive impairment Muscle weakness Scoliosis Strabismus Intellectual disability, mild Intention tremor Pes cavus Muscular hypotonia of the trunk Intrauterine growth retardation CNS hypomyelination Myopia Abnormal cerebellum morphology Polyneuropathy Cerebral cortical atrophy Abnormal pyramidal sign Abnormal facial shape Babinski sign Growth delay Micrognathia Gait ataxia Feeding difficulties Hearing impairment Absent speech

Rare Symptoms - Less than 30% cases


Mandibular prognathia Progressive visual loss Nyctalopia Delayed speech and language development Visual loss Blindness Cardiomyopathy Optic atrophy Truncal ataxia Postural tremor Inability to walk Myalgia Speech apraxia Short stature Dystonia EEG abnormality Proximal muscle weakness Osteoporosis Hypercholesterolemia Hip dysplasia Unsteady gait Abnormality of movement Neurological speech impairment Apraxia Visual impairment Chorea Brisk reflexes Abnormality of the skeletal system Ventriculomegaly Axonal loss Retinopathy Rod-cone dystrophy Truncal titubation Cerebral white matter atrophy Motor polyneuropathy Titubation Axonal degeneration Paresthesia Decreased motor nerve conduction velocity Poor speech Developmental regression Hyperreflexia Mental deterioration Microphthalmia Microcephaly Dysmetria Lower limb muscle weakness Tuberous xanthoma Lymphangioma Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Malar prominence Calvarial skull defect Recurrent myoglobinuria Large forehead Anomalous pulmonary venous return Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Macular hypoplasia Abnormality of the cervical spine Lens luxation Band keratopathy Phthisis bulbi Upper limb postural tremor Abnormal vitreous humor morphology Abnormality of peripheral nerve conduction Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Bifid ureter Decreased serum estradiol Cephalocele Respiratory insufficiency Diarrhea Behavioral abnormality Depressivity Dementia Aplasia cutis congenita Occipital encephalocele Myoclonus Thin skin Hydrocephalus Midface retrusion Patent ductus arteriosus Alopecia Glaucoma Retrognathia Leukemia Joint hyperflexibility Retinal degeneration Polymicrogyria Bulbous nose Retinal detachment Vesicoureteral reflux High myopia Encephalocele Acute rhabdomyolysis Pyloric stenosis Microcornea Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Corneal dystrophy Peripheral demyelination Macular degeneration Decreased testicular size Horizontal nystagmus Narrow face Abnormality of the hair Pachygyria Motor axonal neuropathy Sensory neuropathy Long eyelashes Decreased HDL cholesterol concentration Split hand Abnormality of the periventricular white matter Delusions Hypogonadism Frontotemporal dementia Rhabdomyolysis Epicanthus Angina pectoris Secondary amenorrhea Hypogonadotrophic hypogonadism Kyphosis Abnormality of the dentition Xanthomatosis Precocious atherosclerosis Myelopathy Cholelithiasis Frontal lobe dementia Abnormality of central somatosensory evoked potentials EEG with generalized slow activity Fever Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Talipes equinovarus Pseudobulbar paralysis Abnormality of cholesterol metabolism Hypergonadotropic hypogonadism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Xanthelasma Agitation Abnormality of vision Genu recurvatum Primary amenorrhea Small hand Jaundice Aggressive behavior Camptodactyly of finger Abnormality of the eye Pallor Joint stiffness Spastic paraplegia Amenorrhea Abnormality of the cerebral white matter Malignant hyperthermia Malabsorption Paraplegia Neurodegeneration Progressive cerebellar ataxia Atherosclerosis Progressive neurologic deterioration Joint dislocation Hallucinations Nephrolithiasis Chronic diarrhea Cholestasis Myoglobinuria Myocardial infarction Parkinsonism Abnormality of extrapyramidal motor function Kyphoscoliosis Optic disc pallor Hepatitis Cerebral calcification Hypoglycemia Interphalangeal joint contracture of finger Elevated serum creatine phosphokinase Depressed nasal bridge Frontal bossing Arrhythmia Autism Skeletal dysplasia Autistic behavior Ichthyosis Rhizomelia Sensorimotor neuropathy Anosmia Hammertoe Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Short nose Flexion contracture Peripheral axonal neuropathy Absence seizures Aciduria Esotropia Increased serum lactate Distal amyotrophy Long face Abnormality of the foot Delayed skeletal maturation Delayed puberty Pectus carinatum Hypertrophic cardiomyopathy Deeply set eye High forehead Upslanted palpebral fissure Congestive heart failure Sensorineural hearing impairment Abnormality of mitochondrial metabolism Defective DNA repair after ultraviolet radiation damage Cerebral hypomyelination Loss of ability to walk Lower limb amyotrophy Onion bulb formation Leukodystrophy Intellectual disability, moderate Bilateral microphthalmos Distal sensory impairment Infantile spasms Neoplasm of the skin Broad-based gait Cutaneous photosensitivity Small for gestational age Erythema Progressive cataract Hypotension Decreased adipose tissue around neck Hyperlipidemia Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Orthostatic hypotension Glucose intolerance Lipodystrophy Acanthosis nigricans Pigmentary retinopathy Pancreatitis Clonus Insulin resistance Abnormality of the face Hypertriglyceridemia Epidermal acanthosis Optic nerve hypoplasia Muscular hypotonia Exophoria Generalized tonic-clonic seizures Generalized-onset seizure Focal-onset seizure Waddling gait Muscle cramps Hepatic steatosis Carious teeth Muscular dystrophy Scapular winging Attention deficit hyperactivity disorder Abnormality of the liver Hyperlordosis Elevated hepatic transaminase Difficulty walking Hyperkeratosis Lower limb spasticity Infantile muscular hypotonia Constipation Achalasia Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Esophagitis Limb-girdle muscular dystrophy Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Athetosis Impulsivity Gowers sign Brachycephaly Hyporeflexia Ptosis Corneal opacity Limb ataxia Involuntary movements Hypopigmentation of the skin High, narrow palate Pulmonic stenosis Synophrys Coloboma Poor head control Neonatal hypotonia Reduced visual acuity Cerebellar hypoplasia Hypoplasia of the corpus callosum Anteverted nares Downslanted palpebral fissures Low anterior hairline Slurred speech Myopathy Scanning speech Fatigue Gait disturbance Hepatomegaly Pain Frontal cortical atrophy Craniofacial asymmetry Broad distal phalanx of finger Bilateral ptosis Abnormality of the pulmonary artery Hypoplasia of the fovea Hearing abnormality Hypoplasia of the iris Aniridia Mask-like facies Peripheral hypomyelination



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