Generalized hypotonia, and Hypercholesterolemia

Diseases related with Generalized hypotonia and Hypercholesterolemia

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

Top matches:

High match TMEM199-CDG

Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For an overview of congenital disorders of glycosylation, see CDG1A (OMIM ) and CDG2A (OMIM ).

TMEM199-CDG Is also known as cdgiip|cdg-iip|cdg2p|congenital disorder of glycosylation type iip|carbohydrate deficient glycoprotein syndrome type iip|congenital disorder of glycosylation type 2p|cdg syndrome type iip|cdg iip

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Elevated hepatic transaminase
  • Hepatic steatosis
  • Decreased liver function


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM199-CDG

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Other less relevant matches:

High match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

High match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hypercholesterolemia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hypercholesterolemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Intellectual disability Hypertriglyceridemia Irritability Splenomegaly Growth delay Feeding difficulties Elevated hepatic transaminase Hepatic failure EEG abnormality Skeletal muscle atrophy Diarrhea Hearing impairment Behavioral abnormality Microcephaly Gastroesophageal reflux Strabismus Scoliosis Mandibular prognathia Micrognathia Abnormality of the dentition Frontal bossing Hypoplasia of the corpus callosum Stereotypy Hepatosplenomegaly Anxiety Ataxia Open bite Muscle weakness Decreased liver function Abdominal distention Motor delay

Rare Symptoms - Less than 30% cases

Constipation Inguinal hernia Mood changes Oral-pharyngeal dysphagia Falls Paralysis Deeply set eye Pes cavus Depressivity Dysarthria Blindness Dysphagia Hyporeflexia Peripheral neuropathy Upslanted palpebral fissure Failure to thrive in infancy Recurrent respiratory infections Thrombocytopenia Hypertonia Intellectual disability, moderate Abnormal facial shape Nystagmus Hypertelorism Self-injurious behavior Areflexia Cataract Abnormality of the cardiovascular system Attention deficit hyperactivity disorder Dysphasia Feeding difficulties in infancy Hypoplasia of dental enamel Abnormality of the kidney Low-set, posteriorly rotated ears Abnormal renal morphology Neonatal hypotonia Full cheeks Cryptorchidism Cleft palate Hypothyroidism Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Delayed eruption of teeth Myopia Wide nasal bridge Epicanthus Delayed speech and language development Cognitive impairment Dental crowding Ventriculomegaly Aggressive behavior Anemia Jaundice Increased body weight Muscle cramps Progressive muscle weakness Muscle stiffness Hyperlipidemia Hypoglycemia Acidosis Fatigue Ketosis Vomiting Muscular hypotonia Abnormal protein O-linked glycosylation Malabsorption Scarring Downslanted palpebral fissures Developmental regression Umbilical hernia Hepatic steatosis Elevated alkaline phosphatase Fever Recurrent hypoglycemia Hepatic fibrosis Increased LDL cholesterol concentration Decreased serum ceruloplasmin Abnormal protein N-linked glycosylation Pain Long face Self-mutilation Chronic constipation Odontogenic neoplasm Short attention span Finger swelling Drowsiness Protruding tongue Impaired pain sensation Overweight Elevated serum acid phosphatase Elevated amniotic fluid alpha-fetoprotein Thick upper lip vermilion Deep palmar crease Abnormality of the larynx Broad face Abnormality of the renal tubule Cheilitis Keloids Renal Fanconi syndrome Urogenital fistula Proximal renal tubular acidosis Periventricular cysts Vitamin D deficiency Oligosacchariduria Chorioretinal dysplasia Duodenal atresia Abnormality of calcium-phosphate metabolism Abnormality of the immune system Benign neoplasm of the central nervous system Bruxism Broad palm Poor suck Progressive spastic paraplegia Short palm Macroglossia Microcornea Single transverse palmar crease Sleep disturbance Retinal detachment Small hand Nephropathy Oral cleft Otitis media Paresthesia Dry skin Hypoammonemia Synophrys Lethargy Microtia Hyperlordosis Cleft lip Esotropia Decreased fetal movement Elevated maternal serum alpha-fetoprotein Drooling Abnormality of the thyroid gland Bicarbonaturia Abnormality of dentin Lentiglobus Impulsivity Recurrent ear infections Abnormality of the urinary system Sacral dimple Abnormality of the outer ear Broad-based gait Lissencephaly Hoarse voice Abnormal vertebral morphology Sinusitis Wrist swelling Heterotopia Pachygyria Omphalocele Cavum septum pellucidum Glomerulopathy Everted upper lip vermilion Clonus Reduced number of teeth Neoplasm of the skin Azoospermia Abnormality of dental enamel Aminoaciduria Narrow palate Nephrocalcinosis Joint contracture of the hand Skin ulcer Abnormality of epiphysis morphology Taurodontia Renal tubular dysfunction Amblyopia Generalized hypopigmentation Nephrolithiasis Subcutaneous nodule Abnormality of the metaphysis Atelectasis Hyperphosphaturia Open mouth Osteoarthritis Deep philtrum Hypercalciuria Fine hair Atypical scarring of skin Hyperparathyroidism Pathologic fracture Congenital glaucoma Osteomalacia Renal tubular acidosis Joint swelling Multiple renal cysts Patellar dislocation Hypophosphatemia Gingivitis Hypokalemia Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyperaldosteronism Periodontitis Hyponatremia Chronic otitis media Glomerulonephritis Rickets Abnormality of the voice Sparse scalp hair Abnormality of the ribs Velopharyngeal insufficiency Lacrimation abnormality Microphthalmia Renal insufficiency Long philtrum Kyphosis Respiratory insufficiency Visual impairment Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Reduced visual acuity Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Recurrent aspiration pneumonia Abnormal joint morphology Excessive daytime sleepiness Glaucoma Thin upper lip vermilion Dehydration Joint hyperflexibility Buphthalmos Increased serum lactate Abnormal bleeding Recurrent fractures Metabolic acidosis Abnormal pupil morphology Everted lower lip vermilion Hematuria Joint hypermobility Genu valgum Arthritis Delayed puberty Carious teeth Congenital cataract Platyspondyly Hip dislocation Corneal opacity Camptodactyly of finger Joint stiffness Protruding ear Proteinuria Aciduria Delayed myelination Conductive hearing impairment Abnormality of the coagulation cascade Neonatal sepsis Frontotemporal cerebral atrophy Recurrent infection of the gastrointestinal tract Generalized neonatal hypotonia Intermittent diarrhea Thick hair Diffuse cerebral atrophy Limb hypertonia Recurrent upper respiratory tract infections Type II transferrin isoform profile Shock Chronic diarrhea Sloping forehead Sepsis Respiratory tract infection Muscular hypotonia of the trunk Absent speech Recurrent infections Complex febrile seizures Fatal liver failure in infancy Hyperreflexia Rigidity Sensory neuropathy Confusion Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Pallor Mental deterioration Proximal muscle weakness Respiratory failure Spasticity Myoclonus Dementia Rod-cone dystrophy Visual loss Dystonia Cerebellar atrophy Gait disturbance Tremor Optic atrophy Cerebral atrophy Adrenal calcification Abnormal cerebellum morphology Exercise intolerance Cholestatic liver disease Prolonged neonatal jaundice Elevated serum creatine phosphokinase Ptosis Increased muscle glycogen content Increased hepatic glycogen content Exercise-induced myalgia Myoglobinuria Nausea Elevated alkaline phosphatase of bone origin Nausea and vomiting Myalgia Headache Hypoglycemic seizures Portal fibrosis Bile duct proliferation Fasting hypoglycemia Lactic acidosis Abnormality of the mitochondrion Abnormal glycosylation Copper accumulation in liver Bone-marrow foam cells Protuberant abdomen Periportal fibrosis Low-grade fever Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Esophageal varix Acute hepatic failure Abnormality of lipid metabolism Steatorrhea Hypertension Malnutrition Portal hypertension Cachexia Atherosclerosis Leukodystrophy Pulmonary arterial hypertension Ascites Weight loss Hernia Neurodegeneration Generalized muscle weakness Pes planus High hypermetropia Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Speech apraxia Abnormality of chromosome segregation Echolalia Bipolar affective disorder Poor eye contact Abnormality of dental morphology Expressive language delay Language impairment Trigonocephaly Patent foramen ovale Infantile muscular hypotonia Sleep apnea Dental malocclusion Bifid uvula Triangular face Hypoplasia of the maxilla Prominent nasal tip Central sleep apnea Hypermetropia Obesity High forehead Polyhydramnios Cerebral cortical atrophy Brachycephaly Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Clinodactyly Abnormality of metabolism/homeostasis Receptive language delay Midface retrusion Malar flattening Short nose Edema Anteverted nares Intrauterine growth retardation Brachydactyly Low-set ears Sensorineural hearing impairment Smooth philtrum Small for gestational age Urinary incontinence Progressive hearing impairment Personality changes Spinal muscular atrophy Apathy Incoordination Slurred speech Poor head control Hyperkinesis Melanoma EMG abnormality Muscle fibrillation Foot dorsiflexor weakness Aspiration Fasciculations Hallucinations Involuntary movements Clumsiness Choreoathetosis Psychosis Memory impairment Amyotrophic lateral sclerosis Loss of speech Broad forehead Internuclear ophthalmoplegia Wide mouth Autistic behavior Apnea Autism Intellectual disability, mild High palate Zebra bodies GM2-ganglioside accumulation Therapeutic abortion Proximal amyotrophy Cherry red spot of the macula Abnormal anterior horn cell morphology Psychotic episodes Decerebrate rigidity Paranoia Psychomotor deterioration Exaggerated startle response Torsion dystonia Action tremor Dense posterior cortical cataract


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