Failure to thrive, and Insulin resistance

Diseases related with Failure to thrive and Insulin resistance

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

Top matches:

Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

PARTIAL PANCREATIC AGENESIS Is also known as congenital pancreatic agenesis|pancreatic hypoplasia, congenital|pagen|partial agenesis of the pancreas

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Diabetes mellitus
  • Malabsorption


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL PANCREATIC AGENESIS

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month 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 and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

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

Other less relevant matches:

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

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

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

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

Medium match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Insulin resistance

Symptoms // Phenotype % cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Hyperglycemia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dehydration Pancreatic hypoplasia Motor delay Small for gestational age Neonatal insulin-dependent diabetes mellitus Intellectual disability Seizures Glycosuria Transient neonatal diabetes mellitus Autoimmune antibody positivity Downturned corners of mouth Abnormal heart morphology Microcephaly Hearing impairment Flexion contracture Prominent metopic ridge Bilateral ptosis Hypertension Severe intrauterine growth retardation Type II diabetes mellitus Exocrine pancreatic insufficiency

Rare Symptoms - Less than 30% cases

Osteoporosis Hypovolemia Contractures of the joints of the lower limbs Abnormality of the skeletal system Type I diabetes mellitus Abnormal facial shape Hypoglycemia Vomiting Clinodactyly Joint stiffness Convex nasal ridge Reduced subcutaneous adipose tissue Ileus Meconium ileus Malabsorption Steatorrhea Ptosis Elevated hemoglobin A1c Abnormality of the upper urinary tract Glucose intolerance Ketonuria Coma Radial deviation of finger Muscular hypotonia Talipes equinovarus Weight loss Elevated hepatic transaminase Generalized tonic-clonic seizures Renal tubular dysfunction Arthrogryposis multiplex congenita Short stature Neurodevelopmental delay Maternal diabetes Generalized myoclonic seizures Apraxia Micrognathia Respiratory distress Pneumothorax Abnormality of the pancreas Cor pulmonale Neoplasm of the pancreas Azoospermia Allergy Chronic obstructive pulmonary disease Tachypnea Hypercalciuria Hemoptysis Portal hypertension Bronchitis Clubbing Intestinal obstruction Emphysema Chronic lung disease Biliary cirrhosis Wheezing Malnutrition Male infertility Pulmonary fibrosis Scarring Pancreatitis Nasal polyposis Hepatomegaly Diarrhea Immunodeficiency Dilatation Recurrent infections Recurrent respiratory infections Abdominal pain Respiratory failure Gastroesophageal reflux Carcinoma Respiratory tract infection Abnormality of the liver Cough Nephrocalcinosis Delayed puberty Infertility Nausea Cirrhosis Dyskinesia Abdominal distention Asthma Decreased antibody level in blood Abnormal lung morphology Bronchiectasis Sinusitis Recurrent pneumonia Rectal prolapse Gliosis Chronic infection Perimembranous ventricular septal defect Hyperbilirubinemia Patent foramen ovale Transposition of the great arteries Congenital hypothyroidism Pulmonary artery stenosis Truncus arteriosus Single umbilical artery Mild microcephaly Prolonged partial thromboplastin time Ureteral duplication Interrupted aortic arch Biliary atresia Congenital diaphragmatic hernia Cervical ribs Intermittent diarrhea Microcolon Left-to-right shunt Aplasia/Hypoplasia of the gallbladder Anterior pituitary agenesis Hypoplasia of right ventricle Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Congenital defect of the pericardium Colon perforation Cardiac arrest Oligohydramnios Chronic pancreatitis Feeding difficulties Secretory diarrhea Obstructive lung disease Productive cough Pancreatic adenocarcinoma Recurrent bronchopulmonary infections Obstructive azoospermia Absent vas deferens Elevated sweat chloride Biliary tract obstruction Cellular metachromasia Echogenic fetal bowel Microscopic nephrocalcinosis Ventricular septal defect Hepatitis Atrial septal defect Cerebral atrophy Hernia Patent ductus arteriosus Inguinal hernia Umbilical hernia Neonatal hypotonia Abnormal cardiac septum morphology Pulmonic stenosis Neoplasm Intestinal malrotation Tetralogy of Fallot Pain Wide cranial sutures Clinodactyly of the 4th finger Hypogonadism Aplasia/Hypoplasia of the pancreas Abnormality of the pancreatic islet cells Sensorineural hearing impairment Myopia Behavioral abnormality Intellectual disability, mild Abnormality of metabolism/homeostasis Delayed skeletal maturation Clinodactyly of the 5th finger Severe short stature Prominent forehead Hyperactivity Secundum atrial septal defect Osteopenia Postnatal growth retardation Attention deficit hyperactivity disorder Single transverse palmar crease Delayed eruption of teeth Bilateral sensorineural hearing impairment Low posterior hairline Decreased body weight Cafe-au-lait spot Low anterior hairline Congenital sensorineural hearing impairment Cerebellar agenesis Overlapping fingers Abnormality of the mouth Peripheral axonal neuropathy Increased body weight Maturity-onset diabetes of the young Hypertelorism Macroglossia Overgrowth Severe failure to thrive Premature atrial contractions Hypoinsulinemia Ataxia Intellectual disability, severe Retinopathy Microalbuminuria Bilateral talipes equinovarus Reduced pancreatic beta cells Low-set ears Optic atrophy Obesity Cerebellar hypoplasia Apnea Abnormality of the pinna Pectus carinatum Talipes Triangular face Short chin Optic nerve hypoplasia Truncal obesity Severe postnatal growth retardation Thickened ears Confusion Progressive clavicular acroosteolysis Abnormality of the forearm Generalized hypotonia Muscle weakness Peripheral neuropathy Anteverted nares Short nose Long philtrum Pneumonia Abnormality of the nervous system Muscular hypotonia of the trunk Hypsarrhythmia Osteolytic defects of the distal phalanges of the hand Progressive neurologic deterioration Aspiration Failure to thrive in infancy Polydipsia Polyuria Abnormality of the ear Abnormality of the immune system Ketoacidosis Aspiration pneumonia Mild global developmental delay Limb joint contracture Beta-cell dysfunction Spotty hyperpigmentation Sinus tachycardia Short attention span Abnormality of the ribs Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Scoliosis Malar flattening Midface retrusion Proptosis Dyspnea Tachycardia Pulmonary arterial hypertension Arteriosclerosis Hypertriglyceridemia Mitral regurgitation Dental crowding Sparse and thin eyebrow Sparse eyelashes Osteolysis Atherosclerosis Tricuspid regurgitation Right bundle branch block Bundle branch block Lipoatrophy Delayed closure of the anterior fontanelle Total absence of the pericardium


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