Hyperreflexia, and Abnormality of skin pigmentation

Diseases related with Hyperreflexia and Abnormality of skin pigmentation

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

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

Other less relevant matches:

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Low 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

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Abnormality of skin pigmentation

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

Other less frequent symptoms

Patients with Hyperreflexia and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Short stature Optic atrophy Cataract Generalized hypotonia Intellectual disability, severe Muscular hypotonia Hypertonia Cognitive impairment Dysarthria Gait disturbance Visual impairment Hypopigmentation of the skin Behavioral abnormality Depressivity Retinal degeneration Retinopathy Cerebral cortical atrophy Cerebellar atrophy Pigmentary retinopathy Hearing impairment Strabismus Scoliosis Cerebellar hypoplasia Gait ataxia Paraplegia Unsteady gait Developmental regression

Rare Symptoms - Less than 30% cases

Gastroesophageal reflux Microphthalmia Limb ataxia White hair Sensorineural hearing impairment Abnormal cerebellum morphology Neurological speech impairment Malabsorption Global brain atrophy Cerebral atrophy Cutaneous photosensitivity Anteverted nares Ptosis Motor delay Delayed speech and language development Choreoathetosis Progeroid facial appearance Feeding difficulties in infancy Hyperphenylalaninemia Loss of speech Dystonia Babinski sign Rigidity Abnormality of the nervous system Skin rash Spastic paraplegia Falls Cerebral calcification Progressive neurologic deterioration Frequent falls Flexion contracture Slurred speech Failure to thrive Progressive spastic paraplegia Freckling Blindness Generalized dystonia Mandibular prognathia Involuntary movements Apraxia Mental deterioration Feeding difficulties Abnormality of movement Absent speech High, narrow palate Hypoplasia of the corpus callosum Developmental stagnation at onset of seizures Synophrys Intellectual disability, mild Pulmonic stenosis Bilateral ptosis Reduced visual acuity Neonatal hypotonia Corneal opacity Coloboma Poor head control Congenital cataract Low anterior hairline Muscular hypotonia of the trunk Downslanted palpebral fissures Macroglossia Hyporeflexia of upper limbs Irritability Neural tube defect Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Abnormal facial shape Hepatomegaly Vomiting Midface retrusion Hernia Visual loss Myoclonus Coarse facial features Hepatosplenomegaly Pallor Multifocal epileptiform discharges Generalized tonic-clonic seizures Inability to walk Mask-like facies Increased serum lactate Generalized-onset seizure Status epilepticus Tetraparesis Gingival overgrowth Cerebral visual impairment Loss of consciousness Hypermelanotic macule Lower limb hyperreflexia Abnormal retinal morphology Developmental stagnation Postural tremor Nyctalopia Brisk reflexes Shuffling gait Dysphonia Cachexia Akinesia Impulsivity Oral-pharyngeal dysphagia Obsessive-compulsive behavior Personality changes Alzheimer disease Decreased muscle mass Abnormality of the musculature Peripheral visual field loss Iris hypopigmentation Blepharospasm Abnormal cranial nerve morphology Acanthocytosis Torticollis Motor tics Aceruloplasminemia Eye of the tiger anomaly of globus pallidus Cerebral degeneration Eyelid apraxia Progressive night blindness Equinovarus deformity Stooped posture Tics Obsessive-compulsive trait Anarthria Mood swings Facial grimacing Muscle fiber splitting Orofacial dyskinesia Hyperkinesis Joint dislocation Aniridia Elevated serum creatine phosphokinase Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Truncal titubation Frontal cortical atrophy Dysphagia Talipes equinovarus Myopathy Constipation Hyperpigmentation of the skin Neurodegeneration Stereotypy Clumsiness Bradykinesia Urinary incontinence Brain atrophy Parkinsonism Abnormality of the foot Recurrent respiratory infections Mood changes Abnormal pyramidal sign Weight loss Hyperactivity Dementia Rod-cone dystrophy Glossitis Fever Abnormal urinary color Saccadic smooth pursuit Pes planus Dysmetria Gliosis Intention tremor Incoordination Dysdiadochokinesis Gaze-evoked nystagmus Hyperactive deep tendon reflexes Ocular albinism Enlarged cisterna magna Generalized hypopigmentation Abnormality of the retinal vasculature Dilated fourth ventricle Nonprogressive cerebellar ataxia Hyporeflexia Wide nasal bridge Intrauterine growth retardation Glaucoma Protruding ear Retinal dystrophy Retinal detachment Sloping forehead Optic disc pallor Pachygyria Abnormality of retinal pigmentation Lymphedema Pointed chin Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Pes cavus Increased cellular sensitivity to UV light Cortical gyral simplification Eczema Hemolytic anemia Lower limb spasticity Leukodystrophy Clonus Toe walking Ankle clonus Moderate global developmental delay Loss of ability to walk Limb tremor Growth delay Autism Attention deficit hyperactivity disorder Nausea and vomiting Memory impairment Hemiplegia Abnormal CNS myelination Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Ventriculomegaly Severe short stature Hypogonadism Abnormality of the cardiovascular system Dermal atrophy Decreased nerve conduction velocity Basal cell carcinoma Basal ganglia calcification Squamous cell carcinoma of the skin Cutaneous melanoma Abnormality of neuronal migration Biparietal narrowing Methylmalonic aciduria Psychosis Diarrhea Headache Photophobia EEG abnormality Anxiety Abnormality of the eye Confusion Vertigo Cirrhosis Hepatic steatosis Migraine Aciduria Abnormal blistering of the skin Inflammatory abnormality of the skin Premature graying of body hair Chronic diarrhea Diplopia Hallucinations Aminoaciduria Hypopigmented skin patches Abnormality of vision Encephalitis Emotional lability Insomnia Irregular hyperpigmentation Delusions Gingivitis Bruxism Episodic ataxia Hydrocephalus Hyperpigmentation in sun-exposed areas Abnormal eyelash morphology Spastic gait Vitreoretinopathy Retinal fold Chorioretinal dysplasia Micrognathia Peripheral neuropathy Kyphoscoliosis Retrognathia Hip dislocation Lower limb muscle weakness Sepsis Nevus Sensory impairment Waddling gait Febrile seizures Cafe-au-lait spot Hyperpigmented nevi Narrow face Horseshoe kidney Paraparesis Spastic paraparesis Abnormality of the genitourinary system Bowel incontinence Premature graying of hair Axonal degeneration Vitiligo Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Palilalia


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