Intrauterine growth retardation, and Hyperglycemia

Diseases related with Intrauterine growth retardation and Hyperglycemia

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

Top matches:

Related symptoms:

  • Intrauterine growth retardation
  • Hyperglycemia
  • Maturity-onset diabetes of the young
  • Diabetic ketoacidosis


SOURCES: OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10

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

Other less relevant matches:

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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

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

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

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 Intrauterine growth retardation and Hyperglycemia

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Pancreatic hypoplasia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Hyperglycemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dehydration Global developmental delay Neonatal insulin-dependent diabetes mellitus Intellectual disability Glycosuria Transient neonatal diabetes mellitus Motor delay Bilateral ptosis Downturned corners of mouth Abnormal heart morphology Ketoacidosis Prominent metopic ridge Severe intrauterine growth retardation Small for gestational age Autoimmune antibody positivity Maternal diabetes Type II diabetes mellitus Type I diabetes mellitus

Rare Symptoms - Less than 30% cases

Renal tubular dysfunction Weight loss Ileus Flexion contracture Microcephaly Hearing impairment Muscular hypotonia Contractures of the joints of the lower limbs Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Ketonuria Hypovolemia Coma Generalized myoclonic seizures Apraxia Neurodevelopmental delay Abnormality of the upper urinary tract Hepatitis Cardiac arrest Elevated hemoglobin A1c Intestinal malrotation Sepsis Anemia Hyperbilirubinemia Talipes equinovarus Exocrine pancreatic insufficiency Biliary atresia Glucose intolerance Malabsorption Diabetic ketoacidosis Maturity-onset diabetes of the young Diarrhea Abnormality of the nervous system Vomiting Generalized hypotonia Anterior pituitary agenesis Muscle weakness Hypoplasia of right ventricle Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Ptosis Congenital defect of the pericardium Aspiration pneumonia Peripheral neuropathy Anteverted nares Colon perforation Muscular hypotonia of the trunk Short nose Long philtrum Abnormality of the immune system Abnormality of the ear Clinodactyly Pneumonia Radial deviation of finger Polydipsia Failure to thrive in infancy Aspiration Progressive neurologic deterioration Hypsarrhythmia Confusion Polyuria Truncus arteriosus Aplasia/Hypoplasia of the gallbladder Single umbilical artery Patent ductus arteriosus Inguinal hernia Umbilical hernia Neonatal hypotonia Mild microcephaly Elevated hepatic transaminase Abnormal cardiac septum morphology Pulmonic stenosis Abnormality of the pancreatic islet cells Gliosis Tetralogy of Fallot Oligohydramnios Congenital diaphragmatic hernia Patent foramen ovale Transposition of the great arteries Congenital hypothyroidism Hernia Atrial septal defect Pulmonary artery stenosis Perimembranous ventricular septal defect Mild global developmental delay Left-to-right shunt Limb joint contracture Microcolon Intermittent diarrhea Beta-cell dysfunction Cervical ribs Thickened ears Respiratory distress Interrupted aortic arch Ureteral duplication Clinodactyly of the 4th finger Feeding difficulties Prolonged partial thromboplastin time Hypertension Abnormality of the skeletal system Ventricular septal defect Cerebral atrophy Reduced pancreatic beta cells Steatorrhea Lymphadenopathy Immunodeficiency Recurrent infections Thrombocytopenia Hypothyroidism Arthritis Autoimmunity Hemolytic anemia Acholic stools Eczema Nephrotic syndrome Inflammatory abnormality of the skin Abnormal intestine morphology Eosinophilia Nephritis Jejunal atresia Annular pancreas Abnormality of the coagulation cascade Hypoinsulinemia Increased body weight Hypertelorism Macroglossia Overgrowth Severe failure to thrive Premature atrial contractions Ascites Absent gallbladder Gastrointestinal hemorrhage Tracheoesophageal fistula Anteriorly placed anus Iron deficiency anemia Duodenal atresia Intestinal atresia Meckel diverticulum Erythroderma Malnutrition Insulin resistance Optic nerve hypoplasia Joint stiffness Pectus carinatum Talipes Triangular face Convex nasal ridge Short chin Bilateral talipes equinovarus Apnea Reduced subcutaneous adipose tissue Overlapping fingers Secundum atrial septal defect Meconium ileus Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Abnormality of the pinna Hypoglycemia Abnormality of the thyroid gland Ataxia Autoimmune hemolytic anemia Thyroiditis Villous atrophy Immune dysregulation Intractable diarrhea Secretory diarrhea Intellectual disability, severe Cerebellar hypoplasia Retinopathy Peripheral axonal neuropathy Microalbuminuria Abnormal facial shape Low-set ears Optic atrophy Obesity Total absence of the pericardium


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Skin rash, related diseases and genetic alterations