Cleft palate, and Alzheimer disease

Diseases related with Cleft palate and Alzheimer disease

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


Top 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

Low match ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9


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

Low match ALZHEIMER DISEASE 2; AD2


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

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Other less relevant matches:

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Low match X-LINKED PARKINSONISM-SPASTICITY SYNDROME


X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Low match PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Low match ABETA AMYLOIDOSIS, DUTCH TYPE


Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.

ABETA AMYLOIDOSIS, DUTCH TYPE Is also known as hchwad|amyloidosis, hereditary, with cerebral hemorrhage, dutch variant|hereditary cerebral hemorrhage with amyloidosis, dutch type|cerebral amyloid angiopathy, app-related, iowa variant|cerebral amyloid angiopathy, app-related, italian variant|hchwa, dut

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertension
  • Behavioral abnormality
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETA AMYLOIDOSIS, DUTCH TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Alzheimer disease

Symptoms // Phenotype % cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Senile plaques Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Cognitive impairment Neuronal loss in central nervous system Seizures Cerebral cortical atrophy Postural instability Hypertension Tremor Behavioral abnormality Bradykinesia Gait disturbance

Rare Symptoms - Less than 30% cases


Ataxia Resting tremor Lewy bodies Hyperreflexia Frontotemporal dementia Abnormal pyramidal sign Aphasia Memory impairment Apraxia Stroke Disinhibition Gliosis Rimmed vacuoles Hyporeflexia Areflexia Myositis Deposits immunoreactive to beta-amyloid protein Cerebral atrophy Peripheral neuropathy Limb-girdle muscle weakness Muscle fiber atrophy Morphological abnormality of the central nervous system EMG: myopathic abnormalities Limb-girdle muscular dystrophy Intellectual disability Distal amyotrophy Primitive reflex Irritability Neurodegeneration Stereotypy Language impairment Apathy Personality changes Polyphagia Echolalia Perseveration Muscular dystrophy Inappropriate laughter Hyperorality Emotional blunting Muscle weakness Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Distal muscle weakness Semantic dementia Foot dorsiflexor weakness Unsteady gait Abnormality of the cerebral white matter Dilated third ventricle Dysarthria Kyphoscoliosis Abnormality of eye movement Falls Ophthalmoparesis Morphological abnormality of the pyramidal tract Inappropriate behavior Headache Encephalopathy Cerebral calcification Cogwheel rigidity Progressive neurologic deterioration Leukoencephalopathy Intracranial hemorrhage Cerebral hemorrhage Amyloidosis Transient ischemic attack Cerebral ischemia Cerebral amyloid angiopathy Cerebellar hemorrhage Recurrent cerebral hemorrhage Scissor gait Dilation of lateral ventricles Peripheral axonal neuropathy Shuffling gait Distal sensory impairment Sensory impairment Sensorimotor neuropathy Agnosia Delayed speech and language development Intention tremor Abnormal autonomic nervous system physiology Postural tremor Akinesia Hand tremor Hyposmia Diffuse cerebral atrophy Parkinsonism with favorable response to dopaminergic medication Substantia nigra gliosis Motor aphasia Spasticity Babinski sign Dyskinesia Paraparesis Spastic paraparesis Mask-like facies Ankle clonus Hyperactive deep tendon reflexes Ventriculomegaly Abnormality of extrapyramidal motor function Long-tract signs Microtia Brachycephaly Polydactyly Narrow mouth Hypothyroidism Umbilical hernia Conductive hearing impairment Hydronephrosis Joint laxity Developmental regression Leukemia Clinodactyly of the 5th finger Hypotrichosis Anal atresia Flat face Short palm Postaxial polydactyly Downturned corners of mouth Single transverse palmar crease Neutropenia Macroglossia Microdontia Upslanted palpebral fissure Abnormal heart morphology Thick lower lip vermilion Epicanthus Short stature Generalized hypotonia Hearing impairment Neoplasm Strabismus Muscular hypotonia Cataract Anemia Depressed nasal bridge Brachydactyly Obesity Myopia Short neck Hydrocephalus Edema Abnormality of the dentition Short nose Malar flattening Recurrent infections Abnormality of cardiovascular system morphology Thrombocytopenia Type II diabetes mellitus Depressed nasal ridge Myocardial infarction Atlantoaxial instability Pulmonary edema Complete atrioventricular canal defect Short middle phalanx of the 5th finger Myeloproliferative disorder Abnormality of the lymphatic system Duodenal stenosis Shallow acetabular fossae Abnormality of the fontanelles or cranial sutures Neutrophilia Crackles Acute monocytic leukemia Transient myeloproliferative syndrome Brushfield spots Round ear Left-to-right shunt Acute megakaryocytic leukemia Depressivity Global developmental delay Delusions Hippocampal atrophy Diabetes mellitus Hypoxemia Hypoplastic iliac wing Open mouth Broad palm Aganglionic megacolon Bilateral single transverse palmar creases Narrow palate Sandal gap Renal hypoplasia/aplasia Breast carcinoma Cholelithiasis Hydroureter Decreased fertility Atrioventricular canal defect Transposition of the great arteries Double outlet right ventricle Prematurely aged appearance Abnormality of blood and blood-forming tissues Abnormality of immune system physiology Impaired pain sensation Congenital hypothyroidism Polycythemia Protruding tongue Thrombocytosis Acute lymphoblastic leukemia Thickened nuchal skin fold Tortuous cerebral arteries



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