Intellectual disability, and Hypercholesterolemia

Diseases related with Intellectual disability and Hypercholesterolemia

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

Top matches:

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

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

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Other less relevant matches:

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

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

High match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Top 5 symptoms//phenotypes associated to Intellectual disability and Hypercholesterolemia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Hypercholesterolemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Muscle weakness Ketosis Global developmental delay Motor delay Decreased liver function Cognitive impairment Pain Skeletal muscle atrophy Fatigue Hyperlipidemia

Rare Symptoms - Less than 30% cases

Abnormal facial shape Gait ataxia Myalgia Progressive muscle weakness Ataxia Peripheral neuropathy Dysarthria Tremor Cerebellar atrophy Immunodeficiency Delayed eruption of teeth Areflexia Pes cavus Mental deterioration Cardiomyopathy Distal muscle weakness Peripheral axonal neuropathy Distal amyotrophy Sensory neuropathy Progressive cerebellar ataxia Apraxia Telangiectasia Hypoalbuminemia Sensory axonal neuropathy Gaze-evoked nystagmus Delayed skeletal maturation Elevated serum creatine phosphokinase Oculomotor apraxia Nystagmus Infertility Increased hepatic glycogen content Cirrhosis Abdominal distention Generalized hypotonia Seizures Congestive heart failure Elevated hepatic transaminase Recurrent hypoglycemia Oligospermia Diabetes mellitus Hypertension Limb undergrowth Macroglossia Skeletal dysplasia Frontal balding Flat face Dry skin Hip dislocation Broad-based gait Intellectual disability, moderate Omphalocele Type 2 muscle fiber atrophy Clumsiness Joint laxity Tachycardia Hypothyroidism Aplasia/Hypoplasia involving the nose Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Insulin insensitivity Abnormality of the skull Abnormality of the endocrine system Hypoplastic nasal bridge Constipation Hypertelorism Anemia Depressed nasal bridge Macrocephaly Talipes equinovarus Anteverted nares Diffuse leukoencephalopathy Hoarse voice Dilatation Wormian bones Increased body weight Arrhythmia Spontaneous abortion Increased T3/T4 ratio Hearing impairment Cataract Ptosis Dysphagia Myopathy Hypogonadism Leukoencephalopathy Proximal muscle weakness Muscular dystrophy Dilated cardiomyopathy Palpitations Limb muscle weakness Lower limb muscle weakness Confusion Decreased antibody level in blood Reduced number of teeth Myotonia Congenital hip dislocation Elevated circulating follicle stimulating hormone level Hypersomnia Sudden cardiac death Arteriosclerosis Coxa vara Neck flexor weakness IgM deficiency Relative macrocephaly Congenital hypothyroidism Epiphora Male hypogonadism IgG deficiency Neurofibrillary tangles Drowsiness Long thorax Thyroid hormone receptor defect Increased variability in muscle fiber diameter No permanent dentition High pitched voice Limb fasciculations Short toe Nausea Hypoglycemic seizures Vomiting Diarrhea Headache Irritability Scarring Nausea and vomiting Muscle cramps Bile duct proliferation Muscle stiffness Exercise intolerance Myoglobinuria Exercise-induced myalgia Increased muscle glycogen content Scoliosis Dystonia Portal fibrosis Fasting hypoglycemia Hyporeflexia Insulin resistance Postnatal growth retardation Hyperuricemia Obesity Abnormality of the liver Hepatic steatosis Type II diabetes mellitus Myocardial infarction Azoospermia Hepatic fibrosis Decreased HDL cholesterol concentration Increased LDL cholesterol concentration Premature coronary artery atherosclerosis Muscular hypotonia Splenomegaly Acidosis Lactic acidosis Recurrent infections Dementia Hypohidrosis Brachydactyly Impaired vibration sensation in the lower limbs Distal lower limb muscle weakness Spinocerebellar tract degeneration Spastic dysarthria Pain insensitivity Impaired distal proprioception Micrognathia Severe short stature Cerebellar vermis atrophy High forehead Delayed puberty Microdontia Hypoplasia of penis Blue sclerae Depressed nasal ridge Osteoarthritis Axonal loss Global brain atrophy Ophthalmoplegia Impaired vibratory sensation Distal sensory impairment Chorea Choreoathetosis Limb ataxia Fasciculations Truncal ataxia External ophthalmoplegia Axonal degeneration Steppage gait Progressive external ophthalmoplegia Decreased number of large peripheral myelinated nerve fibers Hypometric saccades Facial grimacing Peripheral axonal degeneration Neoplasm Brain atrophy Sensorimotor neuropathy Iridescent posterior subcapsular cataract


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