Intellectual disability, severe, and Insulin resistance

Diseases related with Intellectual disability, severe and Insulin resistance

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

Top matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Other less relevant matches:

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability (Saeed et al., 2018).

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19 Is also known as obesity, susceptibility to

Related symptoms:

  • Intellectual disability
  • Obesity
  • Insulin resistance
  • Hyperlipidemia
  • Anosmia


SOURCES: OMIM MENDELIAN

More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene.

OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY Is also known as obesity, morbid, nonsyndromic 2

Related symptoms:

  • Intellectual disability
  • Obesity
  • Hypogonadism
  • Aggressive behavior
  • Delayed puberty


SOURCES: ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Insulin resistance

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Micrognathia Obesity Failure to thrive Hearing impairment Diabetes mellitus Short stature Hypogonadism Abnormal facial shape Osteoporosis Cataract Ptosis Delayed puberty Peripheral neuropathy Nystagmus Hypoglycemia Growth delay Microcephaly Myopathy Scoliosis Neonatal hypotonia Ventriculomegaly Cryptorchidism Hypoplasia of the corpus callosum Narrow mouth Intrauterine growth retardation Polyphagia Downturned corners of mouth Macrotia Primary amenorrhea Kyphosis

Rare Symptoms - Less than 30% cases

Microphthalmia Genu valgum Feeding difficulties High palate Truncal obesity Gynecomastia Spontaneous abortion Strabismus Hypergonadotropic hypogonadism Ketoacidosis Neoplasm Cerebral calcification Neurodegeneration Hirsutism Cutaneous photosensitivity Congenital cataract Hypertension Knee flexion contracture Narrow palm Hypertonia Metatarsus adductus Prominent nasal bridge Flexion contracture Blepharophimosis Striae distensae Muscular hypotonia of the trunk Deeply set eye Depressed nasal bridge Emotional lability Agenesis of corpus callosum Insulin-resistant diabetes mellitus Hyperinsulinemia Congestive heart failure Decreased fetal movement Hip dysplasia Skeletal muscle atrophy Delayed speech and language development Cognitive impairment Pain Infertility Amenorrhea Thin upper lip vermilion Abnormality of the nervous system Abnormality of the upper urinary tract Brachycephaly Autism Edema Abnormality of the pinna Growth hormone deficiency Hyperglycemia Osteopenia Conductive hearing impairment Dehydration Carious teeth Aggressive behavior Arthrogryposis multiplex congenita Weight loss Ataxia Epicanthus Respiratory distress Dilatation Respiratory failure Myopia Anteverted nares Short nose Behavioral abnormality Precocious puberty Muscular dystrophy Stroke Feeding difficulties in infancy Poor suck Intellectual disability, mild Hypertriglyceridemia Upslanted palpebral fissure Prominent forehead Type II diabetes mellitus Attention deficit hyperactivity disorder Recurrent respiratory infections Short foot Small hand Short palm Hyporeflexia Polymicrogyria Micropenis Hyperactivity Respiratory tract infection Dolichocephaly Clinodactyly Photophobia Leukemia Hypermetropia Arachnodactyly Apnea Pruritus Advanced eruption of teeth Syndactyly Preauricular skin tag Sparse eyebrow Polycystic ovaries Coarse hair Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Narrow palate Generalized hirsutism Narrow face Sparse and thin eyebrow Neonatal respiratory distress Wide anterior fontanel Dental crowding Thin skin Hypertrichosis Fine hair Epidermal acanthosis Coarctation of aorta Optic disc pallor Intestinal malrotation Abdominal distention Clitoral hypertrophy Abnormality of the thyroid gland Abnormality of the dentition Abnormality of the abdominal wall Vomiting Talipes equinovarus Fever Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Female pseudohermaphroditism Macrodontia Broad eyebrow Diastema Prematurely aged appearance Hypocholesterolemia Long penis Thick nail Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Bell-shaped thorax Growth hormone excess Tapered finger Failure to thrive in infancy Sleep disturbance Poor gross motor coordination Hypercholesterolemia Azoospermia Myocardial infarction Hepatic steatosis Abnormality of the liver Hyposmia Anosmia Hyperlipidemia Acromicria Almond-shaped palpebral fissure Decreased HDL cholesterol concentration Hypopnea Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Oligospermia Increased LDL cholesterol concentration Poor fine motor coordination Impulsivity Decreased T cell activation Decreased serum leptin Hypoplasia of the ovary Orthostatic hypotension due to autonomic dysfunction Decreased proportion of CD4-positive T cells Decreased testosterone in males Absence of secondary sex characteristics Decreased serum estradiol Immune dysregulation Pituitary hypothyroidism Recurrent upper respiratory tract infections Premature coronary artery atherosclerosis Accelerated skeletal maturation Decreased testicular size Delayed thelarche Dorsocervical fat pad Hyperinsulinemic hypoglycemia Maternal diabetes Absence seizures Wide nose Joint laxity Short neck Anteverted ears Abdominal obesity Hypopigmentation of the skin Bradycardia Single transverse palmar crease Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Clumsiness Large hands Psychosis Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Specific learning disability Febrile seizures Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Radial deviation of finger Inflammation of the large intestine Cor pulmonale Iris hypopigmentation Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Hypoventilation Glucose intolerance Hypopigmentation of hair Pulmonary embolism Impaired pain sensation Myeloid leukemia Narrow nasal bridge External genital hypoplasia Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Microcornea Posterior scalloping of vertebral bodies Thick vermilion border Excessive daytime sleepiness Cerebellar hypoplasia Long philtrum Hyperreflexia Sensorineural hearing impairment Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Frontal balding Camptodactyly First degree atrioventricular block Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Kyphoscoliosis Thin vermilion border Alzheimer disease Congenital muscular dystrophy Macrocephaly Anemia Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Abnormality of the ear Rocker bottom foot Coxa valga Gliosis Elbow flexion contracture Joint contracture of the hand Intellectual disability, profound Sloping forehead Peripheral demyelination Neuronal loss in central nervous system Wide intermamillary distance Prominent nose Delayed myelination Thin ribs Myotonia Gait disturbance Prominent metopic ridge Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Hypovolemia Microalbuminuria Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Glycosuria Dysphagia Neurodevelopmental delay Bilateral ptosis Apraxia Generalized myoclonic seizures Coma Peripheral axonal neuropathy Generalized tonic-clonic seizures Retinopathy Abnormal heart morphology Muscle weakness Cerebral atrophy Cholelithiasis Brain atrophy Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Cardiac arrest Hydrops fetalis Progressive muscle weakness Atrial fibrillation Mitral valve prolapse Premature birth Sensory neuropathy Arrhythmia Tachycardia Unsteady gait Lower limb muscle weakness Talipes Mental deterioration Myalgia Polyhydramnios Cerebral cortical atrophy Dementia Downslanted palpebral fissures Abnormality of the skeletal system Postaxial polydactyly Motor tics Ventricular septal defect Brachydactyly Low-set ears Hypertelorism Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Torus palatinus Basilar impression Recurrent infections Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Atrial septal defect Absent speech Broad face Abnormality of the kidney Iris coloboma Long face Dry skin Astigmatism Smooth philtrum Coloboma Sparse hair Postnatal growth retardation Hyperlordosis Telecanthus Clinodactyly of the 5th finger Proteinuria Pes planus Coarse facial features Gastroesophageal reflux Mandibular prognathia Hyperkeratosis Polydactyly Posteriorly rotated ears Constipation Dystrophic fingernails Progressive gait ataxia Hydrocephalus Abnormal pyramidal sign Bradykinesia Otitis media Nevus Hypoplasia of the maxilla Short distal phalanx of finger Distal amyotrophy Narrow chest Synophrys Broad forehead Protruding ear Sparse scalp hair Developmental regression Hypothyroidism Gait ataxia Pes cavus Babinski sign Areflexia Pectus excavatum Midface retrusion Malar flattening Thick lower lip vermilion Abnormal form of the vertebral bodies Thoracic kyphosis Anonychia Poor coordination Irregular vertebral endplates Restlessness Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Bilateral cryptorchidism Thickened skin Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Clonus Abnormal hypothalamus morphology


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