Motor delay, and Hypertriglyceridemia

Diseases related with Motor delay and Hypertriglyceridemia

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


Top matches:

High match GLYCOGEN STORAGE DISEASE IXA1; GSD9A1


Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

Medium match GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY


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

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

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Other less relevant matches:

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match SMITH-MAGENIS SYNDROME; SMS


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

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match GLYCOGEN STORAGE DISEASE VI; GSD6


GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4


Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Top 5 symptoms//phenotypes associated to Motor delay and Hypertriglyceridemia

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hyperlipidemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Hypertriglyceridemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Hypercholesterolemia Seizures Generalized hypotonia Hepatosplenomegaly Fatigue Cardiomyopathy Congestive heart failure Scoliosis Splenomegaly Hypoglycemia Muscle weakness Hypothyroidism Atherosclerosis Constipation Hyperlordosis Exercise intolerance Hearing impairment Sensorineural hearing impairment Pain Abnormality of the dentition Recurrent infections Nephropathy Obesity Diabetes mellitus Vomiting Myalgia Hepatic steatosis Insulin resistance Feeding difficulties Hypertension Abnormality of the kidney Postnatal growth retardation Hepatic fibrosis Myopathy Decreased liver function Deeply set eye Elevated serum creatine phosphokinase Ketosis

Rare Symptoms - Less than 30% cases


Fever Thrombocytopenia Protuberant abdomen Neutropenia Lipodystrophy Hyperinsulinemia Polycystic ovaries Proteinuria Reduced bone mineral density Nephritis Pancreatitis Scarring Emphysema Stage 5 chronic kidney disease Acanthosis nigricans Accelerated skeletal maturation Epidermal acanthosis Growth hormone deficiency Decreased testicular size Hirsutism Tachycardia Anemia Heterotopia Abnormality of upper lip Abnormal renal morphology Sleep disturbance Sinusitis Dry skin Arteriosclerosis Pes planus Gastroesophageal reflux Hyporeflexia Clinodactyly Behavioral abnormality Increased body weight Cognitive impairment Ataxia Short neck Glomerulopathy Kyphosis Intrauterine growth retardation Renal insufficiency Peripheral neuropathy Delayed speech and language development Pneumonia Cataract Strabismus Otitis media Conductive hearing impairment Myopia Lactic acidosis Midface retrusion Cirrhosis Distal muscle weakness Abdominal distention Immunodeficiency Progressive proximal muscle weakness Left ventricular hypertrophy Increased hepatic glycogen content Ventricular hypertrophy Areflexia Cardiomegaly Muscular hypotonia Dilatation Thin upper lip vermilion Full cheeks Proximal muscle weakness Waddling gait Hyperuricemia Osteopenia Depressed nasal bridge Gingivitis Autoimmune thrombocytopenia Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Severe sensorineural hearing impairment Ketoacidosis Peripheral visual field loss Broad foot Posterior subcapsular cataract Oligomenorrhea Hypoventilation Poor coordination Recurrent bronchitis Hyperventilation Alopecia of scalp Insulin-resistant diabetes mellitus Retinal atrophy Acute hepatic failure High pitched voice Tubular atrophy Abnormal renal physiology Achromatopsia Acute pancreatitis Chills Abnormal T cell morphology Pyelonephritis Poor fine motor coordination Abnormal immunoglobulin level Urinary retention Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Disinhibition Myocarditis Retinal pigment epithelial atrophy Endocardial fibroelastosis Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Thoracic scoliosis Bronchitis Pericarditis Generalized hirsutism Portal hypertension Hemophagocytosis Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Cone/cone-rod dystrophy Tachypnea Macular degeneration Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Horizontal nystagmus Chronic otitis media Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Hyperpigmentation of the skin Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Polydipsia Obsessive-compulsive behavior Moyamoya phenomenon Increased serum ferritin Subcapsular cataract Increased number of teeth Hepatic encephalopathy Glycosuria Premature arteriosclerosis Progressive sensorineural hearing impairment Anterior pituitary dysgenesis Nephrosclerosis Agenesis of permanent teeth Short finger Polyphagia Lateral displacement of the femoral head Chorioretinal atrophy Pericardial effusion Aplasia/Hypoplasia of the cerebellum Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Urethral stenosis Increased thyroid-stimulating hormone level Encephalomalacia Corneal opacity Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Lymphoproliferative disorder Bulbous nose Abnormality of skin pigmentation Astigmatism Malabsorption Villous atrophy Platyspondyly Hip dislocation Stroke Lymphoma Autoimmunity Developmental regression Dementia Cerebral ischemia Headache Diarrhea Cerebellar atrophy Precocious atherosclerosis Subvalvular aortic stenosis Abnormal facial shape Dentinogenesis imperfecta Abnormality of the femoral head Vitreous haze Premature birth Microdontia Abnormality of renal calyx morphology Opacification of the corneal stroma Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Hypermelanotic macule Epiphyseal dysplasia Glomerulosclerosis Steatorrhea Multiple cafe-au-lait spots Encephalitis Chronic kidney disease Coarse hair Azoospermia Bone marrow hypocellularity B-cell lymphoma Lymphopenia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the vasculature Transient ischemic attack Thoracic kyphosis Abnormal lung morphology Fine hair Ovoid vertebral bodies Intellectual disability, profound Disproportionate short-trunk short stature Lumbar hyperlordosis Nephrotic syndrome Localized hirsutism Abnormality of prothrombin Abnormality of female external genitalia Lumbar scoliosis Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Steroid-resistant nephrotic syndrome Female hypogonadism Shallow acetabular fossae Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Abnormality of the urethra Abnormality of the pituitary gland Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Combined immunodeficiency Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Urethral obstruction Hypoplastic male external genitalia EEG with occipital slowing Hyperostosis frontalis interna Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Cellular immunodeficiency Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Right ventricular cardiomyopathy Thickened ears Granular macular appearance Optic disc pallor Receptive language delay Chronic active hepatitis Hepatic necrosis Abnormal adipose tissue morphology Nonproductive cough Hypoplasia of the capital femoral epiphysis Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Mucopolysacchariduria Multiple lentigines Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Type II diabetes mellitus Patent ductus arteriosus Hepatitis Abnormal levels of creatine kinase in blood Micrognathia Hypertelorism Microcephaly Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Cryptorchidism Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia IgA deficiency Secondary amenorrhea Lipoatrophy Spinal rigidity Cleft palate Low-set ears Prolonged QT interval Pes cavus Intellectual disability, moderate Aggressive behavior Anxiety EEG abnormality High forehead Polyhydramnios Mandibular prognathia Cerebral cortical atrophy Hyperactivity Brachycephaly Upslanted palpebral fissure Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Epicanthus Inguinal hernia Abnormal heart morphology Abnormality of metabolism/homeostasis Abnormality of cardiovascular system morphology Malar flattening Short nose Edema Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Frontal bossing Wide nasal bridge Brachydactyly Reduced subcutaneous adipose tissue Mildly elevated creatine phosphokinase Paralysis Sinus tachycardia Flexion contracture Increased muscle lipid content Neck muscle weakness Difficulty running Gowers sign Psoriasiform dermatitis Easy fatigability Fasciculations Progressive muscle weakness Ichthyosis Difficulty walking Skeletal muscle atrophy Increased muscle fatiguability Abnormality of the skeletal system Abnormality of lipid metabolism Neurodevelopmental delay Broad nasal tip Distal amyotrophy Thin vermilion border Peripheral axonal neuropathy Intellectual disability, mild Hypoglycemic seizures Portal fibrosis Bile duct proliferation Fasting hypoglycemia Recurrent hypoglycemia Acidosis Dysphagia Talipes equinovarus Increased variability in muscle fiber diameter Sparse and thin eyebrow Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Failure to thrive in infancy Prominent supraorbital ridges Pyloric stenosis Ventricular arrhythmia Delayed gross motor development Ventricular tachycardia Recurrent bacterial infections Pointed chin Muscle stiffness Bradycardia Long eyelashes Arrhythmia Thin skin Palpitations Atrial fibrillation Sudden cardiac death Generalized muscle weakness Spastic paraplegia Muscular dystrophy Joint stiffness Protruding ear Neonatal hypotonia Rigidity Osteoporosis Delayed skeletal maturation Cleft lip Microtia Pigmentary retinopathy Myoclonus Photophobia Jaundice Kyphoscoliosis Dyspnea Autism Weight loss Hyperkeratosis Respiratory failure Polydactyly Abdominal pain Hypogonadism Hyperhidrosis Rod-cone dystrophy Respiratory tract infection Recurrent respiratory infections Alopecia Visual loss Encephalopathy Depressivity Dystonia Blindness Respiratory distress Respiratory insufficiency Optic atrophy Visual impairment Nystagmus Sleep-wake inversion Irritability Pallor Head-banging Retinal degeneration Cyanosis Specific learning disability Progressive visual loss Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Ascites Retinal dystrophy Hepatic failure Nausea Lymphadenopathy Infertility Autistic behavior Delayed puberty Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Sparse hair Abnormality of the liver Frequent temper tantrums Abnormality of the forearm Lethargy Broad-based gait Poor suck Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Lissencephaly Hoarse voice Abnormal vertebral morphology Stereotypy Hypoplasia of dental enamel Pachygyria Omphalocele Decreased fetal movement Impulsivity Abnormality of the cardiovascular system Esotropia Macroglossia Microcornea Delayed eruption of teeth Single transverse palmar crease Retinal detachment Small hand Short palm Falls Oral cleft Paresthesia Synophrys Self-injurious behavior Open bite Midline brain calcifications Abnormality of the larynx Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Deep palmar crease Broad face Abnormality of the thyroid gland Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Hypofibrinogenemia



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