Hepatomegaly, and Alzheimer disease

Diseases related with Hepatomegaly and Alzheimer disease

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

Top matches:

Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).

TRIMETHYLAMINURIA; TMAU Is also known as fish-odor syndrome

Related symptoms:

  • Anemia
  • Hypertension
  • Splenomegaly
  • Depressivity
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRIMETHYLAMINURIA; TMAU

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Other less relevant matches:

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 Is also known as alzheimer disease 9, late-onset

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Cerebral cortical atrophy
  • Parkinsonism
  • Memory impairment


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4

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

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Top 5 symptoms//phenotypes associated to Hepatomegaly and Alzheimer disease

Symptoms // Phenotype % cases
Dementia Common - Between 50% and 80% cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Cerebral cortical atrophy Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Frontotemporal dementia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Alzheimer disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Neuronal loss in central nervous system Parkinsonism Personality changes Apraxia Memory impairment Brain atrophy Mutism Dyscalculia Hypertension Disinhibition Rigidity Depressivity Lewy bodies Dystonia Dysarthria Amyotrophic lateral sclerosis Gait disturbance Skeletal muscle atrophy Cataract Stroke Intellectual disability Ataxia Senile plaques Dysphasia Language impairment

Rare Symptoms - Less than 30% cases

Aphasia Abnormality of extrapyramidal motor function Delusions Anemia Limb apraxia Cholelithiasis Dysgraphia Seizures Muscular hypotonia Apathy Hallucinations Tremor Edema Behavioral abnormality Cerebral atrophy Myoclonus Generalized hypotonia Mental deterioration Muscle weakness Myopathy Respiratory failure Tetraparesis Short stature Muscular dystrophy Postural instability Progressive muscle weakness Fasciculations Agnosia Neutropenia Tachycardia Dilatation Transient myeloproliferative syndrome Crackles Brushfield spots Open mouth Atlantoaxial instability Neutrophilia Round ear Left-to-right shunt Prematurely aged appearance Depressed nasal ridge Acute megakaryocytic leukemia Thick lower lip vermilion Type II diabetes mellitus Microdontia Macroglossia Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Flat face Abnormality of the fontanelles or cranial sutures Bilateral single transverse palmar creases Aganglionic megacolon Acute monocytic leukemia Abnormality of immune system physiology Impaired pain sensation Congenital hypothyroidism Transposition of the great arteries Polycythemia Broad palm Thrombocytosis Atrioventricular canal defect Acute lymphoblastic leukemia Thickened nuchal skin fold Double outlet right ventricle Hypoplastic iliac wing Decreased fertility Shallow acetabular fossae Hydroureter Hypoxemia Pulmonary edema Breast carcinoma Renal hypoplasia/aplasia Complete atrioventricular canal defect Short middle phalanx of the 5th finger Sandal gap Myeloproliferative disorder Narrow palate Abnormality of the lymphatic system Duodenal stenosis Abnormality of blood and blood-forming tissues Protruding tongue Restlessness Paralysis Ophthalmoplegia Urinary urgency Resting tremor Orthostatic hypotension Kinetic tremor Weak voice Substantia nigra gliosis Short stepped shuffling gait Micrographia Spasticity Headache Babinski sign Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Abnormal autonomic nervous system physiology Psychosis Spastic gait Paraparesis Spastic paraparesis Spastic tetraparesis Leukoencephalopathy Lower limb hyperreflexia Shuffling gait Primitive reflex Anarthria Optic ataxia Diabetes mellitus Myocardial infarction Mask-like facies Bradykinesia Neurodegeneration Perseveration Gliosis Hemiparesis Clumsiness Limb ataxia Akinesia Impulsivity Agitation Global brain atrophy Polyphagia Hypotrichosis Dyslexia Dilation of lateral ventricles Astrocytosis Inappropriate behavior Hypotension Hyperorality Bulimia Hypersexuality Progressive language deterioration Diminished motivation Repetitive compulsive behavior Hippocampal atrophy Hyperreflexia Hyporeflexia Bulbar palsy Abnormal lower motor neuron morphology Speech apraxia Constipation Sleep disturbance Anal atresia Abnormality of the dentition Leukemia Fatty replacement of skeletal muscle Pathologic fracture Abnormality of the vertebral column Rimmed vacuoles Urinary bladder sphincter dysfunction Progressive proximal muscle weakness EMG: neuropathic changes Motor axonal neuropathy Shoulder girdle muscle weakness Upper motor neuron dysfunction Pelvic girdle muscle weakness Hip pain Shoulder girdle muscle atrophy EMG: chronic denervation signs Abnormality of calvarial morphology Motor neuron atrophy Generalized amyotrophy Pelvic girdle amyotrophy Ptosis Pain Weakness of muscles of respiration Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Abnormality of long bone morphology Calvarial hyperostosis Semantic dementia Scapuloperoneal weakness Elevated alkaline phosphatase of bone origin Frontal cortical atrophy Pelvic girdle muscle atrophy Cranial nerve compression Difficulty climbing stairs Sensory axonal neuropathy Motor delay Facial palsy Splenomegaly Hyperhidrosis Anxiety Abnormal bleeding Abnormality of the cardiovascular system Recurrent pneumonia Body odor Fish odor Trimethylaminuria Ventriculomegaly Cardiomyopathy Congestive heart failure Elevated serum creatine phosphokinase Proximal muscle weakness Hyperlordosis Increased variability in muscle fiber diameter EMG: myopathic abnormalities Spinal muscular atrophy Limb-girdle muscular dystrophy Back pain Increased susceptibility to fractures Elevated alkaline phosphatase Abnormality of pelvic girdle bone morphology Scapular winging Distal muscle weakness Osteolysis Lumbar hyperlordosis Waddling gait Hepatic steatosis Distal amyotrophy Limb muscle weakness Delayed speech and language development Peripheral neuropathy Microtia Malar flattening Obsessive-compulsive trait Percussion myotonia Ring fibers Global developmental delay Hearing impairment Neoplasm Strabismus Depressed nasal bridge Epicanthus Brachydactyly Myopia Short neck Hydrocephalus Short nose Recurrent infections Excessive daytime sleepiness Narrow mouth Developmental regression Joint laxity Hydronephrosis Conductive hearing impairment Umbilical hernia Hypothyroidism Polydactyly Abnormality of cardiovascular system morphology Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Abnormal heart morphology Obesity Thrombocytopenia Narcolepsy Frontal balding Respiratory distress Atrial fibrillation Intellectual disability, severe Arrhythmia Hypogonadism Polyhydramnios Neonatal hypotonia Myalgia Feeding difficulties in infancy Talipes Lower limb muscle weakness Unsteady gait Sensory neuropathy Premature birth Mitral valve prolapse Decreased fetal movement Hydrops fetalis First degree atrioventricular block Centrally nucleated skeletal muscle fibers Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Thin ribs Insulin resistance Myotonia Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Spontaneous abortion Cardiac arrest Long-tract signs


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