Strabismus, and Pneumonia

Diseases related with Strabismus and Pneumonia

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


Top matches:

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION


PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Low match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Low match CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME


Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Top 5 symptoms//phenotypes associated to Strabismus and Pneumonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Strabismus and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Aspiration Spasticity Hyperreflexia Cerebral atrophy Ataxia Cognitive impairment Respiratory failure Hypertonia Aspiration pneumonia Muscular hypotonia Motor delay Microcephaly Nystagmus Apraxia Gliosis Feeding difficulties Tetraplegia Intellectual disability, severe Hyperactivity Apnea Brain atrophy Failure to thrive Abnormal facial shape Spastic tetraplegia Babinski sign Ventriculomegaly Areflexia Ophthalmoplegia Abnormality of eye movement Rigidity Dysarthria Absent speech

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Wide nasal bridge Epicanthus Cerebellar atrophy Wide mouth Dysmetria Dystonia Hypoventilation Abnormality of the nervous system Short philtrum Spastic paraplegia Paraplegia Irritability Choreoathetosis Adducted thumb Progressive spasticity Mental deterioration Optic atrophy Flexion contracture Falls Recurrent aspiration pneumonia Hepatomegaly Alzheimer disease Neurofibrillary tangles Lethargy Supranuclear gaze palsy Coloboma Vertical supranuclear gaze palsy Global brain atrophy Bradykinesia Microphthalmia Neuronal loss in central nervous system Ptosis Memory impairment Dementia Dysphagia Agenesis of corpus callosum Encephalopathy Tremor Oculomotor apraxia Hypertension Parkinsonism Thrombocytopenia Syncope Clumsiness Gait imbalance Neuronal loss in basal ganglia Frontolimbic dementia Frontal release signs Granulovacuolar degeneration Blurred vision Aphasia Retrocollis Eyelid apraxia Tics Abnormal saccadic eye movements Limb dystonia Axial dystonia Frontotemporal dementia Central apnea Parkinsonism with favorable response to dopaminergic medication Cerebellar cyst Stridor Behavioral abnormality Breech presentation Episodic ataxia Severe lactic acidosis Broad philtrum Olivopontocerebellar atrophy Hyperalaninemia Flared nostrils Decreased activity of the pyruvate dehydrogenase complex Congenital lactic acidosis Chronic lactic acidosis Basal ganglia cysts Apneic episodes precipitated by illness, fatigue, stress Gait disturbance Myoclonus Postural tremor Dyspnea Photophobia Stroke Cough Neurodegeneration Postural instability Frequent falls Diplopia Mutism Eosinophilia Slurred speech Apathy Oral-pharyngeal dysphagia Akinesia Hearing impairment Hyperuricemia Sensorineural hearing impairment Progressive microcephaly Muscular hypotonia of the trunk Hip dislocation Severe global developmental delay Abnormality of the foot Talipes Talipes valgus Distal amyotrophy Retinal dystrophy Motor neuron atrophy Atrophy of the spinal cord Abnormal cerebellum morphology Intention tremor Progressive muscle weakness Fasciculations Cerebellar hypoplasia Cone/cone-rod dystrophy Poor head control Congenital contracture Spinal muscular atrophy Hypoplasia of the brainstem Tongue atrophy Brisk reflexes Gaze-evoked nystagmus Weak cry Axonal loss Abnormal lower motor neuron morphology Hypoplasia of the pons Tongue fasciculations Difficulty walking Respiratory insufficiency Peripheral neuropathy Convex nasal ridge Cardiomyopathy Renal insufficiency Recurrent infections Arrhythmia Prominent forehead Diabetes mellitus Arthritis Neurological speech impairment Hypermetropia Abnormal anterior horn cell morphology Peripheral axonal neuropathy Polyneuropathy Triangular face Hypotelorism Skeletal muscle atrophy Degeneration of anterior horn cells Arnold-Chiari type I malformation Gout High-frequency hearing impairment Abnormal aortic morphology Hyperuricosuria Short attention span Increased urinary hypoxanthine Excessive purine production Abnormality of skeletal muscles Uric acid nephrolithiasis Muscle weakness Visual impairment Increased CSF lactate Renal cyst Preeclampsia Wide nasal ridge Abnormality of the cerebral white matter Bulbous nose Inability to walk Narrow forehead Intellectual disability, progressive Cerebral palsy Drooling Infantile muscular hypotonia Facial hypotonia Everted upper lip vermilion Pseudobulbar signs Edema Coarse facial features Feeding difficulties in infancy Intellectual disability, profound Postnatal microcephaly Hydrops fetalis Leukodystrophy Horizontal nystagmus Leukoencephalopathy Malnutrition Developmental stagnation Neoplasm Delayed speech and language development Fever Neonatal hypotonia Mandibular prognathia Alopecia Visual hallucinations Depressivity Abnormal pyramidal sign Confusion Dyskinesia Hallucinations Muscle stiffness Paraparesis Spastic paraparesis Loss of consciousness Delusions Lewy bodies Senile plaques Talipes equinovarus Fluctuations in consciousness Anemia Respiratory distress Splenomegaly Hepatosplenomegaly Developmental regression Esotropia Progressive neurologic deterioration Protuberant abdomen Trismus Bulbar signs High palate Diarrhea Weight loss Mild microcephaly Small for gestational age Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Frontal bossing Anteverted nares Long philtrum Dilatation Cerebral cortical atrophy Acidosis Paralysis Lactic acidosis Molar tooth sign on MRI Metabolic acidosis Coma Increased serum lactate Heterotopia Tachypnea Hyperammonemia Partial agenesis of the corpus callosum Infantile spasms Central hypotonia Hyperventilation Ketosis Mild global developmental delay Occipital encephalocele Tented upper lip vermilion Autism Downslanted palpebral fissures Autistic behavior Iris coloboma Febrile seizures Leukopenia Delayed gross motor development Breast carcinoma Diffuse cerebral atrophy Stomatitis Reduced dihydropyrimidine dehydrogenase activity Uraciluria Hypertelorism Low-set ears Hydrocephalus Encephalocele Malar flattening Posteriorly rotated ears Polydactyly High forehead Deeply set eye Abnormality of the eye Prominent nasal bridge Postaxial polydactyly Highly arched eyebrow Dandy-Walker malformation Cerebellar vermis hypoplasia Open mouth Retrocerebellar cyst



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Cerebellar vermis hypoplasia, related diseases and genetic alterations Motor delay and Burkitt lymphoma, related diseases and genetic alterations Hepatomegaly and Cyanosis, related diseases and genetic alterations Flexion contracture and Recurrent fractures, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more