Rod-cone dystrophy, and Paralysis

Diseases related with Rod-cone dystrophy and Paralysis

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


Top matches:

Medium 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

Medium match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

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

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Other less relevant matches:

Medium match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Medium match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13 Is also known as spg13

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hyperreflexia
  • Babinski sign
  • Pes cavus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13

Low match USHER SYNDROME, TYPE IIIB; USH3B


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

Low match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Low match ABETALIPOPROTEINEMIA; ABL


Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Nyctalopia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Retinopathy Blindness Short stature Peripheral neuropathy Reduced visual acuity Optic atrophy Muscle cramps Dementia Muscle weakness Intellectual disability Generalized hypotonia Visual impairment Nystagmus Global developmental delay Sensory neuropathy Myopathy Progressive hearing impairment Spasticity Urinary incontinence Pigmentary retinopathy Tremor Dysphagia Lower limb muscle weakness Clumsiness Depressivity Limb muscle weakness Pes cavus Ophthalmoplegia Babinski sign Pallor Cardiomyopathy Respiratory distress Hallucinations Sensorineural hearing impairment Fatigue Scoliosis Pain Encephalopathy

Rare Symptoms - Less than 30% cases


Hyporeflexia Arrhythmia Cerebellar hypoplasia Diabetes mellitus Hypothyroidism Abnormality of skin pigmentation Retinal degeneration Heart block Acidosis Growth hormone deficiency Astigmatism Oral-pharyngeal dysphagia Incoordination Hyperkinesis Abnormality of retinal pigmentation EMG abnormality Strabismus Muscular hypotonia Ptosis Lower limb spasticity Constriction of peripheral visual field External ophthalmoplegia Cognitive impairment Motor delay Hyperreflexia Obesity Spastic paraplegia Optic disc pallor Spastic gait Progressive external ophthalmoplegia Progressive visual loss Lactic acidosis Urinary urgency Impaired vibration sensation in the lower limbs Peripheral visual field loss Urinary bladder sphincter dysfunction Microcephaly Anxiety Mitochondrial myopathy Cataract Involuntary movements Gait disturbance Irritability Developmental regression Proximal muscle weakness Dystonia Behavioral abnormality Vestibular dysfunction High palate Neurodegeneration Skeletal muscle atrophy Dysarthria Delayed speech and language development Mental deterioration Muscular dystrophy Retinal dystrophy Confusion Myoclonus Generalized muscle weakness Memory impairment Psychosis Hernia Iris coloboma Abnormality of the coagulation cascade Steatorrhea Intrauterine growth retardation High, narrow palate Macrocephaly Thick vermilion border Joint hypermobility Downslanted palpebral fissures Thick eyebrow Acanthocytosis Spinocerebellar tract degeneration Cholestatic liver disease Fat malabsorption CNS demyelination Hypocholesterolemia Peripheral demyelination Retinal detachment Small hand Prominent nose High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Abnormality of the liver Convex nasal ridge Otitis media Aciduria Malabsorption Highly arched eyebrow Short metacarpal Hypoplasia of the maxilla Cirrhosis Microcornea Neutropenia Hepatic steatosis Single transverse palmar crease Tapered finger Abnormality of the skeletal system Arachnodactyly Ventricular septal defect Arthritis Wide mouth Protruding ear Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Neonatal hypotonia Thrombocytopenia Thin upper lip vermilion Pes planus Retrognathia Kyphoscoliosis Macrotia Gastroesophageal reflux Mandibular prognathia Clinodactyly of the 5th finger Stroke Recurrent infections Pectus excavatum Genu valgum Edema Kyphosis Smooth philtrum Joint hyperflexibility Decreased LDL cholesterol concentration Malar flattening Lumbar hyperlordosis Delayed puberty Short philtrum Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Microphthalmia Dilatation Abnormal cochlea morphology Low anterior hairline Vestibular hypofunction Truncal ataxia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Bull's eye maculopathy Deep venous thrombosis Misalignment of teeth Facial hypotonia Horizontal nystagmus Delayed gross motor development Vocal cord paralysis Microglossia Gingivitis Macrodontia Granulocytopenia Myopia Thick corpus callosum Photophobia Abnormal pyramidal sign Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Broad-based gait Congenital neutropenia High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Posterior subcapsular cataract Agitation Open mouth Sandal gap Reduced number of teeth Scotoma High hypermetropia Laryngomalacia Recurrent skin infections Venous thrombosis Iris hypopigmentation Leukopenia Intellectual disability, progressive Abnormal electroretinogram Hemianopia Hyperreflexia in upper limbs Preauricular skin tag Progressive microcephaly Gingival overgrowth Exotropia Long eyelashes Tall stature Visual field defect Short metatarsal Thoracic scoliosis Abnormality of the eye Subcapsular cataract Visual hallucinations Weak cry Inappropriate laughter Celiac disease Narrow nasal bridge Abnormality of the hip bone Neoplasm Schizophrenia Precocious puberty Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Hiatus hernia Syncope Depressed nasal bridge Paranoia GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Psychotic episodes Decerebrate rigidity Mood changes Psychomotor deterioration Ventriculomegaly Exaggerated startle response Torsion dystonia Action tremor Proximal amyotrophy Loss of speech Muscle fibrillation Amyotrophic lateral sclerosis Personality changes Zebra bodies Intellectual disability, severe Apathy Sensory axonal neuropathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Breathing dysregulation Asymmetric septal hypertrophy Progressive gait ataxia Hyperventilation Infantile spasms Poor suck Vomiting Overgrowth Chorea Paresthesia Apnea Hypertrophic cardiomyopathy Dyspnea Gait ataxia Cerebral cortical atrophy Headache Spinal muscular atrophy Slurred speech Abnormal basal ganglia MRI signal intensity Tetraparesis Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Purpura Hyperbilirubinemia Exercise intolerance Migraine Reticulocytosis Hemolytic anemia Myalgia Hepatosplenomegaly Jaundice Renal insufficiency Splenomegaly Brachydactyly Anemia Acute kidney injury Progressive encephalopathy Poor head control Abnormal cerebellum morphology Melanoma Hypercholesterolemia Muscle stiffness Foot dorsiflexor weakness Aspiration Fasciculations Progressive muscle weakness Choreoathetosis Falls Myoglobinuria Rigidity Respiratory failure Hypertonia Cerebellar atrophy Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Decreased mean corpuscular volume Necrotizing encephalopathy Abnormal mitochondria in muscle tissue Cryptorchidism Hemiplegia/hemiparesis Increased CSF protein Hypoparathyroidism Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Adrenal insufficiency Ophthalmoparesis Hypomagnesemia Abnormality of mitochondrial metabolism Bilateral ptosis Nasal speech Atrioventricular block Ventricular arrhythmia Ragged-red muscle fibers Reduced tendon reflexes Leukoencephalopathy Hyperaldosteronism Severe lactic acidosis Ventricular hypertrophy Third degree atrioventricular block Abnormal facial shape Micrognathia Failure to thrive Hypertelorism Growth delay Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Gait imbalance Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Sideroblastic anemia Muscle fiber atrophy Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Left ventricular hypertrophy Cardiomegaly Abnormal visual field test Paraplegia Increased body weight Clonus Decreased liver function Spastic tetraplegia Tetraplegia Polyneuropathy Ichthyosis Peripheral axonal neuropathy Infertility Spastic paraparesis Abnormality of the cerebral white matter Abnormality of the nervous system Pneumonia Constipation Syndactyly Intellectual disability, mild Hypoplasia of the corpus callosum Flexion contracture Corticospinal tract atrophy Paraparesis Cerebral palsy Cerebral calcification Degeneration of the lateral corticospinal tracts Vertigo Dilated cardiomyopathy Hypogonadism Severe short stature Elevated serum creatine phosphokinase Delayed skeletal maturation Congestive heart failure Long-tract signs Neurogenic bladder Growth abnormality Distal lower limb amyotrophy Taurodontia Poor coordination Optic neuropathy Progressive spasticity Axonal degeneration Impaired vibratory sensation Postural tremor Hand polydactyly Abetalipoproteinemia



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