Hyperreflexia, and Telangiectasia

Diseases related with Hyperreflexia and Telangiectasia

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

Top matches:

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

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

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Other less relevant matches:

Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.

LEBER PLUS DISEASE Is also known as lhon plus disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about LEBER PLUS DISEASE

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Low match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Telangiectasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Telangiectasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Microcephaly Muscular hypotonia Behavioral abnormality Dysarthria Nystagmus Gait disturbance Cerebellar atrophy Abnormal pyramidal sign Abnormality of the retinal vasculature Growth delay Dry skin Optic atrophy Flexion contracture Recurrent infections Hyperkeratosis Splenomegaly Spasticity Failure to thrive Dysmetria Abnormality of the cerebral white matter Hypertelorism Neurological speech impairment Tremor Gait ataxia

Rare Symptoms - Less than 30% cases

Intention tremor Encephalopathy Venous thrombosis Gingival overgrowth Ophthalmoplegia Stroke Scoliosis Delayed speech and language development Short stature Neoplasm Progressive visual loss Muscle weakness Hearing impairment Neurodevelopmental delay Acrocyanosis Lower limb hyperreflexia Abnormality of the eye Migraine Visual impairment Sensory impairment Retinopathy Dystonia Elevated hepatic transaminase Dementia Edema Hemiparesis Abnormality of vision Asthma Intellectual disability, severe Macular degeneration Acidosis Hyperactive deep tendon reflexes Cerebral atrophy Ankle clonus Aciduria Nail dysplasia Prominent forehead Hepatomegaly Clonus Decreased antibody level in blood Progressive cerebellar ataxia Feeding difficulties Generalized hypotonia Recurrent respiratory infections Vertical nystagmus Lactic acidosis Chronic diarrhea Macrocephaly Blindness Abnormal facial shape Kyphosis Hypertonia Abnormality of the dentition Skeletal muscle atrophy Progressive neurologic deterioration Hernia Reduced protein S activity Reduced protein C activity Hypertension Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Severe global developmental delay Motor delay Delayed skeletal maturation Hyperhidrosis Depressed nasal bridge Prominent nasal bridge Micrognathia Osteoporosis Muscular dystrophy Lack of subcutaneous fatty tissue Brachycephaly Hypothyroidism Kyphoscoliosis Tiger tail banding Skeletal dysplasia Coarse facial features Pontocerebellar atrophy Smooth philtrum Type I transferrin isoform profile Knee flexion contracture Postnatal microcephaly Febrile seizures Decreased liver function EEG abnormality Elevated serum creatine phosphokinase Dental malocclusion Delayed myelination Patent ductus arteriosus Cerebral visual impairment Truncal ataxia Absent speech Conductive hearing impairment Small hand High, narrow palate Myopathy Abnormal myelination Hemangioma Poor suck Trigonocephaly Flat occiput Camptodactyly Respiratory distress Apnea Downslanted palpebral fissures Weak cry Short palm Ankle contracture Upper limb undergrowth Deep venous thrombosis Prolonged partial thromboplastin time Increased variability in muscle fiber diameter Dysostosis multiplex Corneal opacity Urticaria Low-set ears Supranuclear ophthalmoplegia Supranuclear gaze palsy Impaired smooth pursuit Abnormality of the musculature Orthostatic hypotension Macule Dysdiadochokinesis Fasciculations Intellectual disability, mild Limb ataxia Hypohidrosis Hypotension Abnormality of the skin Peripheral axonal neuropathy Abnormality of movement Facial asymmetry Papule Talipes equinovarus Abnormality of metabolism/homeostasis Constipation Increased serum lactate Focal T2 hyperintense basal ganglia lesion Cytochrome C oxidase-negative muscle fibers Tethered cord Ecchymosis Episodic ataxia Arnold-Chiari type I malformation Petechiae Abnormality of extrapyramidal motor function Developmental regression Agenesis of corpus callosum Diarrhea Hypoplasia of the corpus callosum Poor coordination Hepatocellular carcinoma Heterotopia Bruising susceptibility Intellectual disability, moderate Carcinoma Erythema Hyporeflexia Highly arched eyebrow Abnormality of pelvic girdle bone morphology Abnormal cornea morphology Visceromegaly Abnormality of hair texture Hypoplasia of the odontoid process Lipoatrophy Decreased muscle mass Anhidrosis Chronic otitis media Coxa valga Vacuolated lymphocytes Abnormality of the nail Spastic gait Decreased body weight Abnormal form of the vertebral bodies Spastic tetraplegia Cardiomegaly Abnormality of the cardiovascular system Macroglossia Mucopolysacchariduria Abnormality of the abdominal wall Anterior beaking of thoracic vertebrae Abnormality of mucopolysaccharide metabolism Glycopeptiduria Tortuosity of conjunctival vessels Elevated sweat chloride Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormal globus pallidus morphology Cerebral hypomyelination Angiokeratoma corporis diffusum Oligosacchariduria Abnormality of the gallbladder Progressive psychomotor deterioration Angiokeratoma Broad long bones Generalized hyperkeratosis Vascular skin abnormality Jerky ocular pursuit movements Ichthyosis Titubation Visual loss Hematuria Nephropathy Cirrhosis Lower limb muscle weakness Mental deterioration Proteinuria Reduced visual acuity Headache Apraxia Pain Abnormal choroid morphology Conjunctival telangiectasia Visceral angiomatosis Hemianopia Abnormality of the cerebral vasculature Heterochromia iridis Capillary hemangioma Memory impairment Sinusitis Pulmonary embolism Brain neoplasm Focal white matter lesions Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Retinal hemorrhage Micronodular cirrhosis Macular edema Leukodystrophy Raynaud phenomenon Chronic sinusitis Aseptic necrosis Abnormality of the periventricular white matter Glomerulopathy Elevated erythrocyte sedimentation rate Leukoencephalopathy Vasculitis Hearing abnormality Hyperostosis Diminished ability to concentrate Pancytopenia Myeloid leukemia Aplasia/Hypoplasia of the cerebellum Myelodysplasia Decreased nerve conduction velocity Incoordination Leukopenia Bone marrow hypocellularity Gliosis Impaired vibration sensation in the lower limbs Postural instability Neutropenia Distal sensory impairment Unsteady gait Leukemia Abnormality of the nervous system Thrombocytopenia Anemia Acute myeloid leukemia Acute leukemia Arnold-Chiari malformation Cerebral cortical atrophy Corneal dystrophy Cerebral calcification Retinal detachment Iris coloboma Abnormality of eye movement Attention deficit hyperactivity disorder Autistic behavior Glaucoma Gait imbalance Hydrocephalus Dysphagia Abnormal macrophage morphology Acute myelomonocytic leukemia Hypoplastic anemia Increased sensitivity to ionizing radiation Abnormal platelet function Abnormality of neutrophils Progressive forgetfulness Punctate vasculitis skin lesions Trichorrhexis nodosa Nail dystrophy Abnormality of the face Fine hair Cutaneous photosensitivity Small nail Eczema Microcornea Malabsorption Small for gestational age Dysphonia Sparse hair Protruding ear Photophobia Retrognathia Hypogonadism Pneumonia Alopecia Areflexia Increased bone mineral density Brittle hair Cognitive impairment Alopecia of scalp Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance Fragile nails IgG deficiency Keratoconjunctivitis sicca Abnormality of the thorax Congenital ichthyosiform erythroderma Freckling Decreased fertility Basal cell carcinoma Spastic diplegia Squamous cell carcinoma Intestinal obstruction Erythroderma Microphthalmia Cataract Peripheral neuropathy Urinary incontinence Postural tremor Ragged-red muscle fibers Torticollis Spastic paraparesis Diplopia Exotropia Optic disc pallor Brain atrophy Abnormality of color vision Parkinsonism Muscle cramps Polyneuropathy Vertigo Paraplegia Myoclonus Pes cavus Arrhythmia Impaired vibratory sensation Impotence Elevated brain lactate level by MRS Leg muscle stiffness Marcus Gunn pupil Centrocecal scotoma Horizontal supranuclear gaze palsy Cervical spinal canal stenosis Motor tics Rapid neurologic deterioration Abnormal fundus morphology Abnormality of the spinal cord Decreased activity of mitochondrial complex I Gaze-evoked nystagmus Gaze-evoked horizontal nystagmus Abnormality of brainstem morphology Abnormality of the basal ganglia Olivopontocerebellar atrophy Thoracic kyphosis Papilledema Optic neuropathy Abnormal retinal morphology Ethylmalonic aciduria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Delayed eruption of teeth, related diseases and genetic alterations Hyperreflexia and Progressive hearing impairment, related diseases and genetic alterations