Optic atrophy, and Cerebral calcification

Diseases related with Optic atrophy and Cerebral calcification

In the following list you will find some of the most common rare diseases related to Optic atrophy and Cerebral calcification that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Other less relevant matches:

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Medium match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium match COFS SYNDROME

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome|pena-shokeir syndrome type 2

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about COFS SYNDROME

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Optic atrophy and Cerebral calcification

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Optic atrophy and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertonia Basal ganglia calcification Generalized hypotonia Short stature Sensorineural hearing impairment Behavioral abnormality Hearing impairment Encephalopathy Vomiting Anxiety Hydrocephalus Ataxia Spasticity Hypogonadism

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Microphthalmia Cataract Visual impairment Everted lower lip vermilion Severe global developmental delay Ventriculomegaly Cutaneous photosensitivity Nephrocalcinosis Peripheral neuropathy Lethargy Hypotension Alopecia Arrhythmia Fatigue Growth delay Recurrent infections Cerebral cortical atrophy Hepatomegaly Coma Hypokalemia Reduced bone mineral density Infantile spasms Nephrolithiasis Splenomegaly Hyperventilation Muscular hypotonia Increased intracranial pressure Cerebral atrophy Abnormality of the eye Myoclonus Headache Cerebellar atrophy Abnormality of eye movement Abnormality of the nervous system Epileptic encephalopathy Muscular hypotonia of the trunk Spastic tetraplegia Vertigo Polyphagia Postnatal growth retardation Bronchitis Keratoconjunctivitis Iris hypopigmentation Nausea and vomiting Delayed puberty Confusion Alcoholism Diffuse cerebral atrophy Impotence Sleep apnea Seborrheic dermatitis Nausea Sleep disturbance Organic aciduria Diabetes insipidus Type II diabetes mellitus Myocardial infarction Increased body weight Increased susceptibility to fractures Hypogonadotrophic hypogonadism Amenorrhea Hypothyroidism Hypoglycemia Abnormal renal physiology Hypercalciuria Emotional lability Perioral eczema Fatigable weakness Irregular hyperpigmentation Hypoparathyroidism Hypomagnesemia Metabolic ketoacidosis Hyperphosphatemia Reduced consciousness/confusion Desquamation of skin soon after birth Tetany Abnormal pattern of respiration Visual field defect Increased circulating renin level Writer's cramp Hypocalcemic seizures Cortical myoclonus Laryngospasm Hypermagnesiuria Laryngeal stridor Neoplasm Diffuse cerebellar atrophy Recurrent fungal infections Obesity Constipation Orthostatic hypotension Abnormal cerebellum morphology Hypopituitarism Prominent metopic ridge Conjunctivitis Joint stiffness Camptodactyly of finger Arthrogryposis multiplex congenita Talipes Abnormality of retinal pigmentation Inflammatory abnormality of the skin Reduced tendon reflexes High myopia Aplasia/Hypoplasia of the cerebellum Abnormality of immune system physiology Abnormal nasal morphology Intrauterine growth retardation Muscle weakness Aciduria Myopia Diarrhea Visual loss Acidosis Generalized myoclonic seizures Apnea Developmental regression Skin rash Hypotrichosis Lactic acidosis Short neck Wide nasal bridge Proportionate short stature Sudden loss of visual acuity Papilledema Prolactin excess Excessive daytime somnolence Metabolic acidosis Stridor Urticaria Recurrent skin infections Hyperammonemia Cerebral ischemia Central diabetes insipidus Central adrenal insufficiency Bitemporal hemianopia Tachypnea Slow decrease in visual acuity Enlarged pituitary gland Progressive visual field defects Craniopharyngioma Abnormal visual field test Intracranial cystic lesion Neoplasm of the anterior pituitary Abnormal hypothalamus morphology Abnormality of the nasal bone Abnormality of the frontal bone Micrognathia Abnormality of the fingernails Pituitary hypothyroidism Abnormality of vision Hypocalcemia Prominent nose Global brain atrophy Atonic seizures Megalencephaly Excessive daytime sleepiness Frontal bossing Absent speech Hyperactivity Macrotia Coarse facial features EEG abnormality Short philtrum Tetraplegia Dandy-Walker malformation Language impairment Hypotelorism Open mouth Long eyelashes Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Intellectual disability, severe Severe short stature Retinopathy Retinal degeneration Pigmentary retinopathy Abnormality of the cardiovascular system Hyponatremia Back pain Decreased nerve conduction velocity Knee clonus Dystonia Dilatation Babinski sign Spastic paraplegia Pruritus Paraplegia Neurodegeneration Progressive neurologic deterioration Clonus Leukodystrophy Muscle stiffness Lymphocytosis Chronic CSF lymphocytosis Slurred speech Pain Feeding difficulties Hypoplasia of the corpus callosum Edema Neonatal hypotonia Paralysis Generalized tonic-clonic seizures Brain atrophy Febrile seizures Hypsarrhythmia Status epilepticus Progressive microcephaly Dermal atrophy Basal cell carcinoma EMG abnormality Abnormality of the cerebral vasculature Neurological speech impairment Iris coloboma Retinal detachment Gingival overgrowth Venous thrombosis Corneal dystrophy Arnold-Chiari malformation Hyperostosis Pulmonary embolism Hearing abnormality Capillary hemangioma Heterochromia iridis Abnormality of the retinal vasculature Attention deficit hyperactivity disorder Hemianopia Visceral angiomatosis Conjunctival telangiectasia Abnormal choroid morphology Congestive heart failure Depressivity Abdominal pain Paresthesia Dry skin Muscle cramps Eczema Abnormality of the nail Stroke Autistic behavior Freckling Dental malocclusion Progeroid facial appearance Squamous cell carcinoma of the skin Cutaneous melanoma Abnormal CNS myelination Increased cellular sensitivity to UV light Failure to thrive Anemia Thrombocytopenia Mandibular prognathia Carious teeth Genu valgum Recurrent fractures Abnormality of epiphysis morphology Glaucoma Bone pain Rickets Abnormality of dental morphology Osteomalacia Aseptic necrosis Osteopetrosis Abnormality of the renal tubule Periodic paralysis Bicarbonate-wasting renal tubular acidosis Strabismus Macrocephaly Dysphagia Blindness Decreased biotinidase activity


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