Global developmental delay, and Hyperglycemia

Diseases related with Global developmental delay and Hyperglycemia

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

Top matches:

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

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

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Other less relevant matches:

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Top 5 symptoms//phenotypes associated to Global developmental delay and Hyperglycemia

Symptoms // Phenotype % cases
Failure to thrive Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Glycosuria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hyperglycemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diabetes mellitus Ketonuria Intrauterine growth retardation Hypoglycemia Microcephaly Autoimmune antibody positivity Downturned corners of mouth Coma Dehydration Bilateral ptosis Hirsutism Prominent metopic ridge Renal tubular dysfunction Pancreatic hypoplasia Strabismus Respiratory distress Insulin resistance Growth delay Abnormal heart morphology Small for gestational age Muscular hypotonia of the trunk Metabolic acidosis Acidosis Feeding difficulties Short stature Muscular hypotonia Fasting hypoglycemia Postprandial hyperglycemia Ataxia Hearing impairment Motor delay

Rare Symptoms - Less than 30% cases

Increased body weight Polydipsia Abdominal distention Polyuria Confusion Cardiomyopathy Dysphagia Protuberant abdomen Hyperlipidemia Elevated hepatic transaminase Abnormal facial shape Limb joint contracture Hepatic steatosis Ketoacidosis Increased serum lactate Intellectual disability, severe Nystagmus Pallor Ptosis Long face Flexion contracture Anteverted nares Respiratory failure Narrow face High palate Insulin-resistant diabetes mellitus Hyperinsulinemia Areflexia Weight loss Optic atrophy Gliosis Peripheral neuropathy Skeletal muscle atrophy Muscle weakness Osteopenia Apraxia Abnormality of the upper urinary tract Neonatal hypotonia Hypovolemia Vomiting Neurodevelopmental delay Neonatal insulin-dependent diabetes mellitus Elevated hemoglobin A1c Contractures of the joints of the lower limbs Microalbuminuria Generalized myoclonic seizures Ketosis Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Transient neonatal diabetes mellitus Patent ductus arteriosus Hypoplastic tricuspid valve Inguinal hernia Congenital defect of the pericardium Colon perforation Hernia Total absence of the pericardium Scoliosis Cryptorchidism Cerebral atrophy Respiratory insufficiency Muscle flaccidity Myopathy Proximal muscle weakness Joint laxity Facial palsy Atrial septal defect Ventricular septal defect Umbilical hernia Pancreatic aplasia Double outlet left ventricle Interrupted aortic arch Patent foramen ovale Congenital hypothyroidism Exocrine pancreatic insufficiency Hyperbilirubinemia Cardiac arrest Congenital diaphragmatic hernia Oligohydramnios Pulmonary artery stenosis Truncus arteriosus Single umbilical artery Mild microcephaly Muscular dystrophy Ureteral duplication Hepatitis Transposition of the great arteries Perimembranous ventricular septal defect Biliary atresia Cervical ribs Tetralogy of Fallot Abnormality of upper lip Intestinal malrotation Intermittent diarrhea Pulmonic stenosis Microcolon Abnormal cardiac septum morphology Left-to-right shunt Aplasia/Hypoplasia of the gallbladder Anterior pituitary agenesis Hypoplasia of right ventricle Prolonged partial thromboplastin time Bulbar palsy Dilated cardiomyopathy Hypertrichosis Blepharophimosis Short philtrum Smooth philtrum Arachnodactyly Dry skin Thin vermilion border High, narrow palate Microcornea Sepsis Specific learning disability Microdontia Epidermal acanthosis Short palpebral fissure Diabetic ketoacidosis Preauricular skin tag Telecanthus Long foot Long penis Thick nail Advanced eruption of teeth Thin eyebrow Abnormality of the optic nerve Choroideremia Ovarian neoplasm Acanthosis nigricans Flat occiput Abnormal lip morphology Absent eyebrow Clitoral hypertrophy Lipodystrophy Precocious puberty Wide mouth Coarse facial features Ophthalmoplegia Weak cry Limb muscle weakness Lower limb muscle weakness Generalized muscle weakness Waddling gait Decreased fetal movement Lumbar hyperlordosis Atrial fibrillation Clumsiness Progressive muscle weakness Congenital hip dislocation Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Glucose intolerance Multiple joint contractures Centrally nucleated skeletal muscle fibers Retrognathia Epicanthus Dyspnea Mandibular prognathia Brachycephaly Upslanted palpebral fissure Abnormality of the dentition Myopia Micrognathia Difficulty running Neoplasm Abnormality of the skeletal system Spinal deformities Abnormal glucose tolerance Nemaline bodies Chorioretinal dystrophy Type 1 fibers relatively smaller than type 2 fibers Delayed speech and language development Hypertension Galactosuria Bowing of the legs Hypophosphatemia Reduced subcutaneous adipose tissue Osteomalacia Hyperuricemia Renal tubular acidosis Poor appetite Hyperphosphaturia Generalized aminoaciduria Hypouricemia Hypergalactosemia Mild proteinuria Albuminuria Hyperuricosuria Hypercalciuria Impairment of galactose metabolism Galactose intolerance Chronic acidosis Sensorineural hearing impairment Hypoplasia of the corpus callosum Edema Cerebellar atrophy Encephalopathy Visual loss Hyporeflexia Agenesis of corpus callosum Cerebral cortical atrophy Abnormality of the eye Rickets Elevated alkaline phosphatase Severe global developmental delay Abnormality of the pancreatic islet cells Fatigue Irritability Lethargy Drowsiness Neonatal hypoglycemia Abnormality of the gastrointestinal tract Ketotic hypoglycemia Elevated plasma branched chain amino acids Retinopathy Peripheral axonal neuropathy Reduced pancreatic beta cells Steatorrhea Maternal diabetes Cataract Hypokalemia Hepatomegaly Fever Obesity Constipation Severe short stature Osteoporosis Hepatosplenomegaly Proteinuria Hyperlordosis Malabsorption Nephropathy Aminoaciduria Pancreatitis Hypercholesterolemia Apnea Abnormality of eye movement Increased hepatocellular lipid droplets Intention tremor Intellectual disability, mild Malar flattening Midface retrusion Absent speech Hypospadias Cerebellar hypoplasia Prominent forehead Hypertrophic cardiomyopathy Developmental regression Stroke Lactic acidosis Highly arched eyebrow Peripheral demyelination Broad-based gait Tremor Decreased liver function Low anterior hairline Truncal ataxia Shock Leukoencephalopathy Tachypnea Poor suck Anteriorly placed anus Increased CSF lactate Stroke-like episode Breathing dysregulation CNS demyelination Microvesicular hepatic steatosis Congenital lactic acidosis Dystonia Wide nasal bridge Retinal degeneration Clinodactyly Retinal dystrophy Generalized-onset seizure Progressive microcephaly Bradycardia Progressive hearing impairment Athetosis Muscle fibrillation Poor eye contact Central apnea Demyelinating peripheral neuropathy Vegetative state Short nose Long philtrum Pneumonia Hypertelorism Abnormality of the nervous system Hypsarrhythmia Progressive neurologic deterioration Aspiration Type I diabetes mellitus Failure to thrive in infancy Radial deviation of finger Abnormality of the ear Abnormality of the immune system Aspiration pneumonia Mild global developmental delay Beta-cell dysfunction Thickened ears Clinodactyly of the 4th finger Onychauxis


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