Optic atrophy, and Cholestasis

Diseases related with Optic atrophy and Cholestasis

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


Top matches:

Medium match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Medium match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

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Other less relevant matches:

Medium match MEGDEL SYNDROME


MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

MEGDEL SYNDROME Is also known as mgca6|3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome|3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome|megdhel|3-methylglutaconic aciduria, type vi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGDEL SYNDROME

Medium match ALPERS-HUTTENLOCHER SYNDROME


Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Medium match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Medium match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Medium match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Medium match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Top 5 symptoms//phenotypes associated to Optic atrophy and Cholestasis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Jaundice

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the liver

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Muscular hypotonia Spasticity Short stature Acidosis Microcephaly Failure to thrive Elevated hepatic transaminase Lactic acidosis Hepatic failure Sensorineural hearing impairment Hepatomegaly Peripheral neuropathy Cataract Hypogonadism Abnormal facial shape Developmental regression Hypoplasia of the corpus callosum Aciduria Motor delay Arrhythmia Ptosis Epicanthus Status epilepticus Cerebellar atrophy Blindness Cirrhosis Respiratory tract infection Increased serum lactate Large fontanelles Encephalopathy Depressivity Vomiting Cerebral visual impairment Visual impairment Generalized-onset seizure

Rare Symptoms - Less than 30% cases


Growth delay Dementia Myoclonus Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Cortical gyral simplification High palate Cardiomyopathy Posteriorly rotated ears Cognitive impairment Generalized tonic-clonic seizures Obesity Cerebral cortical atrophy Skeletal muscle atrophy Anteverted nares Fever Dysphagia Abnormality of movement Abnormality of the eye Decreased liver function Abnormality of vision Clumsiness Cerebral atrophy Brain atrophy Metabolic acidosis Hepatic steatosis Abnormality of mitochondrial metabolism Hepatic fibrosis 3-Methylglutaconic aciduria Pneumonia Hypoglycemia Progressive spasticity Recurrent respiratory infections Absent speech Severe failure to thrive Hepatitis Behavioral abnormality Cerebellar hypoplasia Coarse facial features Hemiparesis Tremor Rod-cone dystrophy Paraparesis Spastic paraparesis Nystagmus Dolichocephaly Low-set ears Migraine Prolonged neonatal jaundice Coma Edema Myopathy Sensory neuropathy Retinopathy Downslanted palpebral fissures Elevated serum creatine phosphokinase Ventriculomegaly Respiratory distress Hernia Peripheral axonal neuropathy Generalized myoclonic seizures Umbilical hernia Neonatal hypotonia Mental deterioration Frontal bossing Tracheoesophageal fistula Abnormality of the thyroid gland Triangular face Progressive cerebellar ataxia Retinal dystrophy Malabsorption Congenital hypothyroidism Palpebral edema Lymphadenopathy Nevus Leukemia Abnormal eyelid morphology Hypothermia Anterior hypopituitarism Skin rash Low-set, posteriorly rotated ears Pseudohypoparathyroidism Primary hypothyroidism Thyroid hypoplasia Abnormality of the nervous system Intestinal obstruction Oligodontia Underdeveloped nasal alae Therapeutic abortion Oral cleft Dry skin Paresthesia Feeding difficulties in infancy Anxiety Glutathione synthetase deficiency Hypothyroidism Constipation Abdominal distention Chronic leukemia Morbilliform rash Fluctuating hepatomegaly Intellectual disability, severe Fluctuating splenomegaly Hypertension Normocytic hypoplastic anemia Sleep disturbance Hypoplastic anemia Growth abnormality Nuclear cataract Goiter Anosmia Reduced tendon reflexes Blue sclerae Leukocytosis Petechiae Abnormality of the hair Organic aciduria Macroglossia Cholestatic liver disease Agenesis of cerebellar vermis Sinusitis Extramedullary hematopoiesis Normocytic anemia Depressed nasal ridge Hypotension Increased thyroid-stimulating hormone level Convex nasal ridge Hoarse cry Multiple lipomas Intrahepatic cholestasis Motor axonal neuropathy Ventricular extrasystoles Progressive external ophthalmoplegia Mitochondrial myopathy Lipoma Hyperthyroidism Muscle fibrillation Mildly elevated creatine phosphokinase Abnormality of the endocrine system Right bundle branch block Sensory axonal neuropathy Ophthalmoparesis Hyperkinesis EMG: myopathic abnormalities Delayed gross motor development Ragged-red muscle fibers External ophthalmoplegia Ventricular tachycardia Diffuse cerebral atrophy Supraventricular tachycardia EMG abnormality Cytochrome C oxidase-negative muscle fibers Global systolic dysfunction Lacticaciduria Weakness of facial musculature Abnormality of thalamus morphology EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Fatty replacement of skeletal muscle Diffuse cerebellar atrophy Sinus tachycardia Increased CSF lactate Abnormality of brainstem morphology Decreased activity of mitochondrial respiratory chain Increased serum pyruvate Abnormal echocardiogram Portal fibrosis Right ventricular cardiomyopathy Stroke-like episode Gait imbalance Wolff-Parkinson-White syndrome Exercise intolerance Left ventricular hypertrophy Ectopic thyroid Osteoporosis Esotropia Renal cyst Ichthyosis Congenital cataract Nyctalopia Postnatal growth retardation Facial palsy High forehead Midface retrusion Rhizomelia Wide nasal bridge Delayed speech and language development Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Abnormal pericardium morphology Arthralgia Progressive muscle weakness Palpitations Muscle weakness Pulmonary arterial hypertension Ophthalmoplegia Abnormality of the cerebral white matter Neurological speech impairment Hypertrophic cardiomyopathy EEG abnormality Dyspnea Respiratory insufficiency Fatigue Elevated levels of phytanic acid Leukodystrophy Very long chain fatty acid accumulation Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Hepatosplenomegaly Cerebral cortical neurodegeneration Kyphoscoliosis Congenital diaphragmatic hernia Abnormal cortical gyration Communicating hydrocephalus Relative macrocephaly Lissencephaly Microretrognathia Wide anterior fontanel Heterotopia Microdontia Macular hypoplasia Dandy-Walker malformation Intestinal malrotation Iris coloboma Pulmonary hypoplasia Bulbous nose Joint hypermobility Facial asymmetry Colpocephaly Severe hydrocephalus Coloboma Febrile seizures Ketonuria Renal tubular dysfunction Abnormality of the coagulation cascade Hyperammonemia Truncal ataxia Lower limb spasticity Abnormality of extrapyramidal motor function Sepsis Periventricular gray matter heterotopia Dyskinesia Inability to walk Abnormality of skin pigmentation Paraplegia Spastic paraplegia Recurrent infections Dystonia Scoliosis Abnormal cardiac septum morphology Cleft lip Psychomotor deterioration Double outlet right ventricle Confusion Irritability Photophobia Gait ataxia Headache Dysarthria Tethered cord Cystic hygroma Nausea Hypoplastic left heart Absence seizures Coarctation of aorta Wide intermamillary distance Pulmonic stenosis Abnormality of the pinna Patent ductus arteriosus Flexion contracture Unsteady gait Distal sensory impairment Polyhydramnios Atrophy/Degeneration affecting the brainstem Atrial septal defect Hydrocephalus Macrocephaly Strabismus Biliary tract abnormality Fat malabsorption Iris hypopigmentation Agitation Polyneuropathy Apathy Bilateral single transverse palmar creases Hypergonadotropic hypogonadism Sensorimotor neuropathy Intention tremor Type II diabetes mellitus Pigmentary retinopathy Sensory impairment Demyelinating peripheral neuropathy Increased total bilirubin Abdominal pain Hirsutism Cerebellar vermis hypoplasia Intellectual disability, profound Hypsarrhythmia Narrow forehead Delayed myelination Full cheeks Tapered finger Muscular hypotonia of the trunk Gingival overgrowth Osteopenia Narrow mouth Diabetes mellitus Agenesis of corpus callosum Abnormality of the skeletal system Cryptorchidism Ethylmalonic aciduria Hypertrichosis Narrow palate Phonic tics Microalbuminuria Delayed skeletal maturation Thrombocytopenia Splenomegaly Diarrhea Anemia Pain Tented philtrum Primitive reflex Scrotal hypoplasia Thin bony cortex Long palpebral fissure Pathologic fracture Brisk reflexes Overfolded helix Deep philtrum CNS hypomyelination Tented upper lip vermilion Epilepsia partialis continua Cerebral degeneration Neonatal sepsis Retrognathia Epileptic encephalopathy Memory impairment Focal-onset seizure Gliosis Neurodegeneration Paralysis Rigidity Respiratory failure Progressive neurologic deterioration Hyperactivity Areflexia Visual loss Hypertonia Intrauterine growth retardation Micrognathia 3-Methylglutaric aciduria Ketotic hypoglycemia Neuronal loss in central nervous system Choreoathetosis Multifocal seizures Tics Chronic hepatitis Gastric ulcer Micronodular cirrhosis Microvesicular hepatic steatosis Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Fetal akinesia sequence Intellectual disability, progressive Increased CSF protein Progressive encephalopathy Abnormality of visual evoked potentials Celiac disease Spastic diplegia Akinesia Encephalitis Slurred speech Basal ganglia necrosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Generalized tonic-clonic seizures, related diseases and genetic alterations Autoimmunity and Hypertonia, related diseases and genetic alterations

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