Cognitive impairment, and Constipation

Diseases related with Cognitive impairment and Constipation

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


Top matches:

Medium match PARKINSON DISEASE 20, EARLY-ONSET; PARK20


Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

Related symptoms:

  • Seizures
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dystonia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 20, EARLY-ONSET; PARK20

Medium match PARKINSON DISEASE, LATE-ONSET; PD


Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Medium match HEREDITARY LATE-ONSET PARKINSON DISEASE


Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease|lopd

Related symptoms:

  • Dysphagia
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY LATE-ONSET PARKINSON DISEASE

Medium match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Medium match INFANTILE DYSTONIA-PARKINSONISM


Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Medium match NEPHROPATHIC INFANTILE CYSTINOSIS


Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about NEPHROPATHIC INFANTILE CYSTINOSIS

Medium match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Medium match FATAL FAMILIAL INSOMNIA


Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Top 5 symptoms//phenotypes associated to Cognitive impairment and Constipation

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Constipation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Bradykinesia Dystonia Rigidity Spasticity Generalized hypotonia Ataxia Hyperkinesis Postural instability Global developmental delay Muscular hypotonia of the trunk Encephalopathy Visual impairment Abnormal autonomic nervous system physiology Feeding difficulties Diplopia Dementia Involuntary movements Dyskinesia Mental deterioration Nystagmus Abnormality of the eye Abnormality of movement Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Apathy Progressive neurologic deterioration Irritability Anxiety Failure to thrive Hypokinesia Hyperhidrosis Abnormality of the cerebral white matter Hypertonia Impulsivity Limb hypertonia Limb dystonia Agitation Oculogyric crisis Memory impairment Cerebellar atrophy Absent speech Inability to walk Chronic constipation Confusion Gliosis Frequent falls Gait disturbance Hearing impairment Hypomimic face Fatigue Weight loss Fever Shuffling gait Hallucinations Neuronal loss in central nervous system Sleep disturbance Resting tremor Weak voice Cerebral cortical atrophy Generalized tonic-clonic seizures Lewy bodies Hyperreflexia Drooling Intellectual disability Recurrent pneumonia Polydipsia Rickets Hypophosphatemia Gastroesophageal reflux Glycosuria Pneumonia Renal tubular dysfunction Hyperphosphaturia Flexion contracture Abnormal cornea morphology Corneal crystals Renal Fanconi syndrome Tubulointerstitial abnormality Hypokalemia Dehydration Aminoaciduria Cerebral palsy Pigmentary retinopathy Abnormal pyramidal sign Photophobia Low-molecular-weight proteinuria Acidosis Vomiting Chorea Growth delay Abnormality of carboxylic acid metabolism Ocular flutter Orofacial dyskinesia Morphological abnormality of the pyramidal tract Delayed gross motor development Hyperchloremic metabolic acidosis Abnormality of ion homeostasis Abnormality of thyroid physiology Hyperventilation Neurodegeneration Coma Slurred speech Stridor Impotence Aphasia Insomnia Urinary bladder sphincter dysfunction Apnea Hypothermia Bulbar signs Dysuria Central apnea Astrocytosis Urinary retention Hypersomnia Delirium Tachycardia Gait ataxia CNS demyelination Retinal dystrophy Abnormality of vitamin D metabolism Sensorineural hearing impairment Cataract Peripheral neuropathy Optic atrophy Neonatal hypotonia Dysmetria Falls Sensory neuropathy Myoclonus Lower limb spasticity Decreased liver function Leukodystrophy Spastic paraparesis Cerebellar vermis atrophy Corpus callosum atrophy Very long chain fatty acid accumulation Hypertension Urinary hesitancy Urinary incontinence Brain neoplasm Delayed speech and language development Episodic fever Orthostatic hypotension Excessive salivation Infantile encephalopathy Hyperphenylalaninemia Microcephaly Urinary urgency Opisthotonus Ventriculomegaly Alzheimer disease Mask-like facies Autism EEG abnormality Developmental regression Severe global developmental delay Frontotemporal dementia Kinetic tremor Personality changes Micrographia Motor delay Behavioral abnormality Ptosis Babinski sign Muscular hypotonia Hyperactivity Strabismus Lethargy Obsessive-compulsive behavior Short stepped shuffling gait Choreoathetosis Intellectual disability, progressive Severe muscular hypotonia Torticollis Substantia nigra gliosis Poor suck Poor speech Focal-onset seizure Emotional lability Headache Orthostatic hypotension due to autonomic dysfunction Spastic/hyperactive bladder Monotonic speech Supranuclear gaze palsy Neoplasm Muscle weakness Pain Visual loss Parkinsonism with favorable response to dopaminergic medication Difficulty walking Scarring Autoimmunity Paresthesia Apraxia Muscle stiffness Incoordination Low frustration tolerance Hyposmia Epileptic encephalopathy Arnold-Chiari type I malformation Optic disc pallor Hypsarrhythmia Status epilepticus Postnatal microcephaly Limb ataxia Hypohidrosis Cerebral visual impairment Multifocal epileptiform discharges Visual hallucinations Muscle cramps Hypotension Stroke Schizophrenia Staring gaze Akinesia Eyelid apraxia Snoring



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