Intrauterine growth retardation, and Diabetes mellitus

Diseases related with Intrauterine growth retardation and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Diabetes mellitus 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

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL 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

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Diabetes mellitus

Symptoms // Phenotype % cases
Hyperglycemia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Pancreatic hypoplasia Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Type I diabetes mellitus Maternal diabetes Neonatal insulin-dependent diabetes mellitus Severe intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Autoimmune hemolytic anemia Abnormal facial shape Ketoacidosis Intestinal atresia Intellectual disability Seizures Global developmental delay Microcephaly Abnormality of the thyroid gland Cerebellar hypoplasia Thickened skin Autoimmunity Hepatitis Sepsis Abnormality of the upper urinary tract Immunodeficiency Ileus Intestinal malrotation Intellectual disability, severe Diarrhea Glucose intolerance Maturity-onset diabetes of the young Diabetic ketoacidosis Anemia Dehydration Malabsorption Talipes equinovarus Absent eyebrow Hashimoto thyroiditis Alopecia of scalp Severe combined immunodeficiency Overlapping fingers Hypoplasia of the thymus Rectal abscess Ectopic calcification Bloody diarrhea Jejunoileal ulceration Gastrointestinal atresia Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Abnormality of the ductus choledochus Recurrent abscess formation Psoriasiform dermatitis Talipes Omphalocele Intractable diarrhea Abnormality of the coagulation cascade Malnutrition Thyroiditis Villous atrophy Immune dysregulation Cerebellar agenesis Secretory diarrhea Abdominal distention Ventricular septal defect Polyhydramnios Meconium ileus Secundum atrial septal defect Sparse hair Hearing impairment Nail dystrophy Motor delay Ataxia Flexion contracture Optic nerve hypoplasia Short chin Convex nasal ridge Hypovolemia Contractures of the joints of the lower limbs Reduced pancreatic beta cells Low-set ears Optic atrophy Bilateral talipes equinovarus Triangular face Obesity Hypoglycemia Apnea Abnormality of the pinna Joint stiffness Pectus carinatum Microalbuminuria Autoimmune antibody positivity Muscular hypotonia Coma Abnormal heart morphology Weight loss Retinopathy Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Peripheral axonal neuropathy Downturned corners of mouth Generalized myoclonic seizures Ketonuria Apraxia Bilateral ptosis Reduced subcutaneous adipose tissue Neurodevelopmental delay Glycosuria Nephritis Prominent metopic ridge Renal tubular dysfunction Erythroderma Advanced eruption of teeth Eosinophilia Hypoplasia of the corpus callosum Annular pancreas Acholic stools Jejunal atresia Micrognathia Delayed speech and language development Hyperreflexia Wide nasal bridge Long philtrum Meckel diverticulum Absent speech Hyperactivity Aggressive behavior Intellectual disability, moderate Polymicrogyria Sloping forehead Decreased fetal movement Absent gallbladder Biliary atresia Tetraparesis Premature atrial contractions Increased body weight Exocrine pancreatic insufficiency Hypertelorism Small for gestational age Macroglossia Overgrowth Severe failure to thrive Transient neonatal diabetes mellitus Duodenal atresia Hypoinsulinemia Ascites Gastrointestinal hemorrhage Hyperbilirubinemia Tracheoesophageal fistula Anteriorly placed anus Iron deficiency anemia Thick lower lip vermilion Hemiparesis Abnormal intestine morphology Thrombocytopenia Prematurely aged appearance Growth hormone excess Thick nail Long penis Abnormality of the abdominal wall Female pseudohermaphroditism Recurrent infections Hypothyroidism Polycystic ovaries Arthritis Lymphadenopathy Hemolytic anemia Eczema Nephrotic syndrome Inflammatory abnormality of the skin Cardiac arrest Precocious puberty Coarse hair Heterotopia Short stature Pachygyria Spastic tetraparesis Lissencephaly Impulsivity Cortical gyral simplification Abnormal corpus callosum morphology Schizencephaly Peripheral neuropathy Acanthosis nigricans Brachydactyly Abnormality of the dentition Mandibular prognathia Coarse facial features Proteinuria Dry skin Generalized hirsutism Aplasia/Hypoplasia of the pancreas


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