Strabismus, and Nausea and vomiting

Diseases related with Strabismus and Nausea and vomiting

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY


2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as sbcadd|sbcad deficiency|short/branched-chain acyl-coa dehydrogenase deficiency|developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency|2-methylbutyric aciduria|2-methylbutyryl glycinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Low match ALG11-CDG


ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

ALG11-CDG Is also known as cdg-ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation type ip|cdg syndrome type ip|carbohydrate deficient glycoprotein syndrome type ip|cdg1p

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG11-CDG

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Other less relevant matches:

Low match EPISODIC ATAXIA, TYPE 1; EA1


Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Low match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match INFANTILE ONSET SPINOCEREBELLAR ATAXIA


Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

INFANTILE ONSET SPINOCEREBELLAR ATAXIA Is also known as ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia, infantile, with sensory neuropathy|iosca|spinocerebellar ataxia 8, formerly|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|ohaha syndrome|sca8, formerly|

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Strabismus and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Muscular hypotonia Feeding difficulties Lethargy Microcephaly Optic atrophy Hearing impairment Hypertonia Pain Headache Nausea Abnormal facial shape Muscle weakness Myoclonus Nystagmus

Rare Symptoms - Less than 30% cases


Acidosis Fever Poor eye contact Babinski sign Muscular hypotonia of the trunk Metabolic acidosis Areflexia Cerebellar atrophy Hyperreflexia Dysarthria Irritability Encephalopathy Myopathy Vertigo Peripheral neuropathy Frontal bossing Low-set ears Cryptorchidism Growth delay Short stature Coma Scoliosis Progressive cerebellar ataxia Hypoglycemia Autism Behavioral abnormality Attention deficit hyperactivity disorder Sensory neuropathy Migraine Motor delay Decreased number of peripheral myelinated nerve fibers Facial myokymia Abnormality of the eye Abnormality of eye movement Focal clonic seizures Delayed speech and language development Ophthalmoplegia Decreased activity of the pyruvate dehydrogenase complex Intellectual disability, moderate Elevated hepatic transaminase Brachydactyly Cerebral cortical atrophy Hypogonadism Myopia Anteverted nares Atrial septal defect Constipation Posteriorly rotated ears Abnormality of movement Polyneuropathy Epilepsia partialis continua Gastroesophageal reflux Specific learning disability Dyskinesia Status epilepticus Psychosis Clumsiness Involuntary movements Hypergonadotropic hypogonadism Reduced tendon reflexes Mutism Epileptic encephalopathy Athetosis Sensory axonal neuropathy Atrophy/Degeneration affecting the brainstem Peripheral axonal neuropathy Excessive daytime somnolence Loss of ability to walk Mood swings Abnormality of the autonomic nervous system Hyperactivity Abnormal vertebral morphology Thin upper lip vermilion Dystonia Osteopetrosis Acute encephalopathy Titubation Increased head circumference Uncontrolled eye movements Increased density of long bones Epicanthus Ventriculomegaly Progressive encephalopathy Edema Blindness Abnormality of the vertebral column Leukopenia Aminoaciduria Truncal ataxia Cerebral atrophy Agenesis of corpus callosum Developmental regression Dysmetria Neurodegeneration Tetraplegia Increased serum lactate Aciduria Tetralogy of Fallot Short femoral neck Short chin Anxiety Failure to thrive Low-set, posteriorly rotated ears Hyperlordosis Autistic behavior Wide mouth Broad forehead Hypermetropia Small hand Spastic tetraplegia Small nail Broad-based gait Obsessive-compulsive behavior Anemia Brain atrophy Hepatomegaly Macrocephaly Gait disturbance Hypoplasia of the corpus callosum Hydrocephalus Splenomegaly Thrombocytopenia Prominent forehead Hepatosplenomegaly Facial palsy Triangular face Short foot Adrenal hypoplasia Gastrointestinal dysmotility Opisthotonus Hyperglycinuria Apneic episodes in infancy Sensorineural hearing impairment Long philtrum Absent speech High forehead Retrognathia Neonatal hypotonia Scaling skin Inverted nipples Generalized amyotrophy Type I transferrin isoform profile Temperature instability Flexion contracture Tremor Elevated serum creatine phosphokinase Rigidity Unsteady gait Inability to walk Postural instability Hypothermia Exotropia Esotropia Tics Visual impairment Pes cavus Gait ataxia Reduced visual acuity Distal sensory impairment Urinary urgency Impaired pain sensation Episodic abdominal pain EMG: neuropathic changes Areflexia of lower limbs Apnea Spastic dysarthria Decreased number of large peripheral myelinated nerve fibers Diffuse cerebellar atrophy Impaired distal tactile sensation Abolished vibration sense Facial tics Abnormal morphology of the cerebellar cortex Skeletal muscle atrophy Respiratory distress Muscle cramps Cyanosis Abnormality of mitochondrial metabolism Fatigue Loss of consciousness Pathologic fracture Ketoacidosis Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Cognitive impairment Cardiomyopathy Hyperlipidemia Diarrhea Hyperhidrosis Abdominal pain Photophobia Pallor Anorexia Abnormal autonomic nervous system physiology Exercise intolerance Adrenal insufficiency Hypertriglyceridemia Choreoathetosis Blurred vision Spastic gait Fasciculations Muscle stiffness Cerebral palsy Hyperkinesis Slurred speech Incoordination Abnormality of the hand Postural tremor Muscle fibrillation Downturned corners of mouth Cerebellar vermis atrophy Hypomagnesemia Episodic ataxia Tetany Myokymia Hypertelorism Osteoporosis Diabetes mellitus Small for gestational age Muscular dystrophy Encephalomalacia



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