Hyperreflexia, and Cutaneous photosensitivity

Diseases related with Hyperreflexia and Cutaneous photosensitivity

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

Top matches:

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

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

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Other less relevant matches:

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

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

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

Low match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly|xph, formerly|xp4 xeroderma pigmentosum viii, formerly|xpdc|xp, group d|xp, group h, formerly|xeroderma pigmentosum iv

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Cutaneous photosensitivity

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Photophobia Fever Microphthalmia Cognitive impairment Spasticity Cataract Short stature Hearing impairment Atonic seizures Muscular hypotonia Cerebellar atrophy Dermal atrophy Generalized hypotonia Nystagmus Tremor Myoclonus Mental deterioration Absence seizures Telangiectasia Status epilepticus Focal-onset seizure Encephalopathy Intellectual disability, severe EEG abnormality Developmental regression Generalized myoclonic seizures Areflexia Febrile seizures Epileptic encephalopathy

Rare Symptoms - Less than 30% cases

Psychosis Hyperactivity Growth delay Dysarthria Abnormal pyramidal sign Keratoconjunctivitis sicca Hypertonia Gait ataxia Muscular hypotonia of the trunk Macular degeneration Dystonia Malabsorption Neoplasm Delayed speech and language development Abnormality of extrapyramidal motor function Delayed myelination Migraine Postnatal microcephaly Progressive neurologic deterioration Chronic diarrhea Scoliosis Strabismus Flexion contracture Hyporeflexia Defective DNA repair after ultraviolet radiation damage Bruxism Hemiclonic seizures Entropion Generalized tonic-clonic seizures Optic atrophy Ventriculomegaly Severe short stature Hypogonadism Poikiloderma Keratitis Cerebral atrophy Melanoma Freckling Abnormality of the nervous system Choreoathetosis Progeroid facial appearance Conjunctivitis Ectropion Basal cell carcinoma Corneal neovascularization Abnormality of the thorax Brittle hair Intestinal obstruction Dysphonia Decreased fertility Congenital ichthyosiform erythroderma Spastic diplegia Squamous cell carcinoma Alopecia of scalp Erythroderma Hyperactive deep tendon reflexes Hyperkeratosis Increased bone mineral density Nail dystrophy Babinski sign Alopecia Pneumonia Retrognathia Protruding ear Sparse hair Small for gestational age Dry skin Abnormality of the face Ichthyosis Microcornea Asthma Decreased antibody level in blood Nail dysplasia Eczema Small nail Fine hair IgG deficiency Severe global developmental delay Fragile nails Neurodevelopmental delay Behavioral abnormality Stroke Abnormal cerebellum morphology Generalized-onset seizure Cerebral visual impairment Progressive microcephaly Focal impaired awareness seizure Generalized tonic-clonic seizures with focal onset Severe muscular hypotonia Multifocal seizures Focal clonic seizures Psychomotor retardation Obtundation status Neoplasm of the skin Leukemia Acute lymphoblastic leukemia Olivopontocerebellar atrophy Motor delay Hemiparesis Woolly hair Lack of subcutaneous fatty tissue Pili torti Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Titubation Abnormality of hair texture Jerky ocular pursuit movements Tiger tail banding Peripheral neuropathy Brain atrophy Syndactyly Elevated serum creatine phosphokinase Difficulty walking Sensory neuropathy Progressive cerebellar ataxia Clumsiness Motor deterioration Visual loss Recurrent infections Prominent nasal bridge Second metatarsal posteriorly placed Hallucinations Confusion Unsteady gait Vertigo Cirrhosis Hepatic steatosis Aciduria Abnormal blistering of the skin Inflammatory abnormality of the skin Diplopia Aminoaciduria Abnormality of the eye Hypopigmented skin patches Abnormality of vision Encephalitis Emotional lability Insomnia Irregular hyperpigmentation Delusions Gingivitis Episodic ataxia Skin rash Anxiety Abnormal urinary color Decreased nerve conduction velocity Autism Aggressive behavior Autistic behavior Hyperventilation Intermittent hyperventilation Retinopathy Retinal degeneration Pigmentary retinopathy Abnormality of the cardiovascular system Basal ganglia calcification Gastroesophageal reflux Squamous cell carcinoma of the skin Cutaneous melanoma Abnormal CNS myelination Increased cellular sensitivity to UV light Ptosis Gait disturbance Hydrocephalus Diarrhea Headache Depressivity Methylmalonic aciduria Mood changes Deep longitudinal plantar crease Insulin resistance Neurodegeneration Gliosis Prominent nose Wide intermamillary distance Neuronal loss in central nervous system Peripheral demyelination Cerebral calcification Sloping forehead Intellectual disability, profound Joint contracture of the hand Thin vermilion border Elbow flexion contracture Coxa valga Knee flexion contracture Congenital muscular dystrophy Rocker bottom foot Abnormality of the ear Osteopetrosis Miosis Long ear Hirsutism Congenital cataract Glossitis Hypoplasia of the corpus callosum Neural tube defect Hyperphenylalaninemia Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Failure to thrive Micrognathia Abnormal facial shape Cryptorchidism Kyphosis Arthrogryposis multiplex congenita Long philtrum Cerebellar hypoplasia Agenesis of corpus callosum Osteoporosis Macrotia Kyphoscoliosis Deeply set eye Camptodactyly Blepharophimosis Muscular dystrophy Gonadal hypoplasia


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