Rod-cone dystrophy, and Migraine

Diseases related with Rod-cone dystrophy and Migraine

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Migraine that can help you solving undiagnosed cases.


Top matches:

High match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

High match SPINOCEREBELLAR ATAXIA 6; SCA6


Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 6; SCA6

High match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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Other less relevant matches:

High 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 HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match PRIMARY CILIARY DYSKINESIA


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Medium match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match ALPORT SYNDROME, X-LINKED; ATS


Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Migraine

Symptoms // Phenotype % cases
Headache Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Migraine. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Vomiting

Uncommon Symptoms - Between 30% and 50% cases


Cataract Pain Retinopathy Dysphagia Hearing impairment Nystagmus Peripheral neuropathy Dysarthria Gait ataxia Fatigue Blindness Constipation Hypogonadism Renal insufficiency Nyctalopia Short stature Encephalopathy Nephrotic syndrome Myopathy Splenomegaly Mental deterioration Visual loss Microcephaly Photophobia Depressivity Tremor Optic atrophy Hepatomegaly Visual impairment Pigmentary retinopathy Growth delay Myalgia Hypertelorism Fever Purpura Abdominal pain Muscle cramps Pallor Sensory neuropathy Sensorineural hearing impairment External ophthalmoplegia Vertigo Ophthalmoplegia Hypertrophic cardiomyopathy Dyspnea Proteinuria Retinal dystrophy Cardiomyopathy Chronic kidney disease Ventriculomegaly Spasticity Cerebral cortical atrophy Respiratory distress Nausea

Rare Symptoms - Less than 30% cases


Type II diabetes mellitus Dystonia Failure to thrive Neoplasm Myopia Arrhythmia Congenital cataract Generalized hypotonia Hyperkinesis Apathy Hemiparesis Status epilepticus Dementia Diarrhea Sensory impairment Ichthyosis Weight loss Coma Thrombocytopenia Acidosis Gastroesophageal reflux Developmental regression Anxiety Paresthesia Apnea Lactic acidosis Ventricular hypertrophy Involuntary movements Peripheral axonal neuropathy Leukocytosis Intestinal obstruction Left ventricular hypertrophy Abdominal situs inversus Optic disc pallor Bilateral sensorineural hearing impairment Ptosis Male infertility Abdominal distention Cognitive impairment Feeding difficulties Hypertension Poor suck Edema Posterior subcapsular cataract Short neck Infertility Cough Amenorrhea Muscle weakness Erythema Strabismus Postnatal growth retardation Congestive heart failure Pneumonia Polyneuropathy Confusion Hepatosplenomegaly Aphasia Mitochondrial myopathy Hemiplegia Hypoparathyroidism Heart block Gait disturbance Paralysis Cerebellar atrophy Diabetes mellitus Progressive external ophthalmoplegia Jaundice Brachydactyly High palate Neurodegeneration Postural instability Anemia Abnormal cerebellum morphology Glomerulopathy Ophthalmoparesis Rhabdomyolysis Exercise intolerance Attention deficit hyperactivity disorder Abnormality of the liver Tubulointerstitial nephritis Autism Epicanthus Frontal bossing Kyphosis Irritability Delayed speech and language development Proximal muscle weakness Motor polyneuropathy Dysesthesia Psychomotor deterioration Intellectual disability, severe Babinski sign Anterior hypopituitarism Muscle fiber atrophy Abnormal respiratory motile cilium morphology Crackles Absent frontal sinuses Immotile cilia Nasal polyposis Writer's cramp Chronic rhinitis Episodic vomiting Stroke-like episode Myoclonic spasms Progressive gait ataxia Abnormality of peripheral nerve conduction Oral-pharyngeal dysphagia Proximal tubulopathy Constriction of peripheral visual field Speech apraxia Sensory axonal neuropathy Infantile spasms Hyperventilation Left ventricular failure Overgrowth Retinal pigment epithelial atrophy Abnormal cornea morphology Ileus Hemianopia Chorea Abnormality of the renal tubule Generalized muscle weakness Asymmetric septal hypertrophy Seborrheic dermatitis Breathing dysregulation Persistence of primary teeth Amaurosis fugax Chronic bronchitis Hydrocephalus Abnormal macular morphology Otitis media Spotty hypopigmentation Paronychia Dyskinesia Respiratory tract infection Conductive hearing impairment Recurrent respiratory infections Abnormal mitochondrial morphology Edema of the dorsum of hands Recurrent infections Prominent ear helix Hemeralopia Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Cochlear malformation Episodic quadriplegia Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormality of acid-base homeostasis Homonymous hemianopia Recurrent otitis media Crohn's disease Leber optic atrophy Abnormal nerve conduction velocity Nasal obstruction Spontaneous hematomas Communicating hydrocephalus Duodenal atresia Gastroparesis Abnormal cochlea morphology Asplenia Auditory hallucinations Polysplenia Chronic sinusitis Recurrent sinusitis Renal Fanconi syndrome Abnormal lung morphology Bronchitis Ciliary dyskinesia Dextrocardia Neonatal respiratory distress Chronic otitis media Anosmia Situs inversus totalis Tubulointerstitial abnormality Psychotic episodes Sinusitis Bronchiectasis Abnormality of the cerebellar vermis Retinal pigment epithelial mottling Abnormal bleeding Retinal arteriolar tortuosity Asymmetry of the thorax Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Multiple lentigines Nasogastric tube feeding Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Reduced factor XIII activity Preductal coarctation of the aorta Cystic hygroma Foam cells Morphological abnormality of the semicircular canal Lentiglobus Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation Neoplasm of the colon Uterine neoplasm Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Periorbital edema Elliptocytosis Corneal erosion Postductal coarctation of the aorta Edema of the lower limbs Microscopic hematuria Macular dystrophy Nephritis Tinnitus Corneal dystrophy Leukopenia Subcutaneous nodule Hematuria Stage 5 chronic kidney disease Dry skin Midface retrusion Abnormality of the vertebral column Neurofibromas Necrotizing encephalopathy Dilatation Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Polyhydramnios Proptosis Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Clinodactyly Pectus excavatum Hernia Abnormality of cardiovascular system morphology Intellectual disability, mild Broad forehead Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Depressed nasal bridge Low-set ears Cryptorchidism Abnormal facial shape Micrognathia Corticospinal tract atrophy Abnormal visual field test Abnormal mitochondria in muscle tissue Abnormal basal ganglia MRI signal intensity Abnormal cardiac septum morphology Leukemia Abnormality of color vision Lymphedema Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Amblyopia Hypotrichosis Clumsiness Primary amenorrhea Low posterior hairline Coarctation of aorta Wide intermamillary distance Webbed neck Dental malocclusion Reduced consciousness/confusion Triangular face High, narrow palate Bruising susceptibility Facial asymmetry Pulmonic stenosis Gait imbalance Generalized hirsutism Cerebral ischemia Sepsis Hypermelanotic macule Urticaria Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Eczema Dehydration Aciduria Gastrointestinal hemorrhage Limitation of joint mobility Lymphadenopathy Colitis Papule Skin rash Arthritis Arthralgia Hyperhidrosis Flexion contracture Scoliosis Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Elevated erythrocyte sedimentation rate Amyloidosis Spastic paraparesis Erysipelas Abnormality of the dentition Respiratory insufficiency Skeletal muscle atrophy Hyperreflexia Motor delay Muscular hypotonia Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Porokeratosis Subcapsular cataract Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Poor coordination Peripheral visual field loss Uveitis Episodic fever Agitation Paraparesis Cerebral atrophy Hyperuricemia Slurred speech Limb ataxia Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Parkinsonism Progressive cerebellar ataxia Retinal degeneration Abnormality of eye movement Moderate receptive language delay Oval face Chronic constipation Low anterior hairline Subarachnoid hemorrhage Aganglionic megacolon Renal agenesis Vesicoureteral reflux Arachnodactyly Prominent nasal bridge Autistic behavior Abnormality of the kidney Neonatal hypotonia Narrow mouth Hyperactivity Obesity Gaze-evoked nystagmus Impaired smooth pursuit Bilateral single transverse palmar creases Decreased mean corpuscular volume Hypergonadotropic hypogonadism Sensorimotor neuropathy Cholestasis Intention tremor Distal sensory impairment Cirrhosis Unsteady gait Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Myoglobinuria Vertical nystagmus Progressive encephalopathy Reticulocytosis Acute kidney injury Emotional lability Spastic tetraparesis Hyperbilirubinemia Tetraparesis Hemolytic anemia Muscular dystrophy Square-wave jerks Abnormal vestibulo-ocular reflex Cerebellar cortical atrophy Hypertonia Areflexia Wolff-Parkinson-White syndrome Hyponatremia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Personality changes Abnormality of mitochondrial metabolism Hyperkalemia Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Growth abnormality Easy fatigability Goiter Schizophrenia Mutism Dysphasia Visual field defect Ischemic stroke Abnormality of visual evoked potentials Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Xerostomia Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Prolonged QT interval Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Hypopigmented skin patches Ragged-red muscle fibers Hyporeflexia Dilated cardiomyopathy Polymicrogyria Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Carious teeth Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Neurological speech impairment Nephropathy Stroke Protruding ear Abnormality of the pinna Feeding difficulties in infancy EEG abnormality Hypothyroidism Osteoporosis Myoclonus Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Hirsutism Generalized myoclonic seizures Reduced tendon reflexes Gingival overgrowth Pancreatitis Macular degeneration Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Anorexia Sudden cardiac death Decreased body weight Hypertrichosis Atrial fibrillation Psychosis Pulmonary arterial hypertension Generalized-onset seizure Abnormality of the cardiovascular system Cerebral calcification Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Cylindruria



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