Intrauterine growth retardation, and Hyperinsulinemia

Diseases related with Intrauterine growth retardation and Hyperinsulinemia

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

Top matches:

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

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:

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

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as liver glycogen phosphorylase deficiency|glycogen storage disease type vi|gsd type 6|glycogen storage disease type 6|gsd type vi|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|gsd due to liver glycogen phosphorylase deficiency|glycogenosis t

Related symptoms:

  • Short stature
  • Hypoglycemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Is also known as hyperinsulinism-hyperammonemia syndrome|hi/ha syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypoglycemia
  • Hyperammonemia
  • Hyperglycemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

Related symptoms:

  • Short stature
  • Delayed speech and language development
  • Obesity
  • Elevated hepatic transaminase
  • Aggressive behavior


SOURCES: ORPHANET MENDELIAN

More info about SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about OBESITY DUE TO SIM1 DEFICIENCY

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hyperinsulinemia

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Hyperglycemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Polyphagia Glucose intolerance Intellectual disability Obesity Small for gestational age Global developmental delay Cognitive impairment Hypertelorism Abnormal facial shape Cryptorchidism Diabetes mellitus Insulin resistance Hypoglycemic seizures Type II diabetes mellitus Weight loss Hypopigmentation of the skin

Rare Symptoms - Less than 30% cases

Upslanted palpebral fissure Adrenal insufficiency Hepatomegaly Talipes equinovarus Severe failure to thrive Hearing abnormality Severe intrauterine growth retardation Decreased muscle mass Myeloid leukemia Seizures Large hands Precocious puberty Almond-shaped palpebral fissure Acanthosis nigricans Central adrenal insufficiency Chromosome breakage Cholestasis Motor delay Oligohydramnios Increased body weight Muscular hypotonia Congestive heart failure Ventriculomegaly Fever Epicanthus Delayed speech and language development Feeding difficulties Attention deficit hyperactivity disorder Strabismus Hypogonadism Micrognathia Neoplasm Nystagmus Leukemia Dolichocephaly Delayed puberty Growth hormone deficiency High palate Scoliosis Neonatal hypoglycemia Hyperammonemia Depressed nasal bridge Microcephaly Feeding difficulties in infancy Hypertrophic cardiomyopathy Hyperinsulinemic hypoglycemia Delayed skeletal maturation Recurrent respiratory infections Severe short stature Elevated hepatic transaminase Proptosis Neonatal hypotonia Postnatal growth retardation Umbilical hernia Vomiting Finger syndactyly Anal atresia Facial asymmetry Decreased circulating cortisol level Abnormality of the foot Toe syndactyly Hip dislocation Pituitary hypothyroidism Vertigo Abnormal cardiac septum morphology Abnormality of the liver Irritability Short thumb Abnormality of the kidney Abnormal vertebral morphology Abnormality of the eye Astigmatism Bruising susceptibility Abnormality of skin pigmentation Aganglionic megacolon Choanal atresia Short palpebral fissure Pancytopenia Sloping forehead Hyperbilirubinemia Adrenal hypoplasia Abnormality of the genital system Recurrent urinary tract infections Hyponatremia Adrenocorticotropic hormone deficiency Tetralogy of Fallot Renal agenesis Telangiectasia Lymphoma Neutropenia Cafe-au-lait spot Carcinoma Hypospadias Pes planus Hypopnea Cataract Cleft palate Ataxia Hearing impairment Acromicria Poor gross motor coordination Increased adipose tissue Narrow palm Anemia Psychotic episodes Hypoplastic labia minora Temperature instability Triangular mouth Childhood-onset truncal obesity Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Ptosis Visual impairment Hypothyroidism Headache Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Hypergonadotropic hypogonadism Thrombocytopenia Gonadotropin deficiency Abnormality of cardiovascular system morphology Red hair Hyperreflexia Microphthalmia Renal insufficiency Atrial septal defect Hydrocephalus Respiratory distress Abnormality of the skeletal system Frontal bossing Fatigue Spina bifida Anemic pallor Hepatic failure Acute monocytic leukemia Abnormality of the preputium Reticulocytopenia Hypoglycemic coma Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Abnormal aortic morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Pyridoxine-responsive sideroblastic anemia Abnormality of nervous system morphology Asymptomatic hyperammonemia Partial duplication of thumb phalanx Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Deficient excision of UV-induced pyrimidine dimers in DNA Complete duplication of thumb phalanx Primary hypothyroidism Aplasia/Hypoplasia of the iris Low-grade fever Neoplasm of head and neck Meckel diverticulum Duplicated collecting system Aplasia/Hypoplasia of the uvula Duodenal stenosis Aplasia/Hypoplasia of fingers Abnormality of the ulna Abnormal eyelid morphology Bone marrow hypocellularity Hypopigmented skin patches Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Agenesis of corpus callosum Increased resting energy expenditure Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Prolonged G2 phase of cell cycle Acidosis Type I diabetes mellitus Horseshoe kidney Ectopic kidney Postural hypotension with compensatory tachycardia External ear malformation Impaired social interactions Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Aggressive behavior Acute myeloid leukemia Anteverted ears Hyperlipidemia No social interaction Hydroureter Autistic behavior Hypotension Multiple cafe-au-lait spots Memory impairment Abnormal autonomic nervous system physiology Abnormal glucose tolerance Absent thumb Vitamin B1 deficiency Clitoral hypoplasia Narrow palpebral fissure Poor fine motor coordination Thickened nuchal skin fold Thick nasal alae Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Long foot Lipoatrophy Pancreatic islet-cell hyperplasia Reduced subcutaneous adipose tissue Hypermelanotic macule Clitoral hypertrophy Cachexia Cutis laxa Generalized hirsutism Gynecomastia Hepatic fibrosis Abnormality of the abdominal wall Absence of subcutaneous fat Hypertrichosis Transient neonatal diabetes mellitus Myopathy Intellectual disability, severe Edema Myopia Hypertension Pain Generalized hypotonia Hypoinsulinemia Premature atrial contractions Female pseudohermaphroditism Dehydration Overgrowth Macroglossia Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Postprandial hyperglycemia Gingival overgrowth Thick lower lip vermilion Behavioral abnormality Prolonged QT interval Dicarboxylic aciduria Prolonged prothrombin time Decreased plasma carnitine Hypoketotic hypoglycemia Acute hepatic failure Myoglobinuria Proportionate short stature Mildly elevated creatine phosphokinase Hepatic necrosis Pigmentary retinopathy Hepatic steatosis Lactic acidosis Confusion Lethargy Dilated cardiomyopathy Diarrhea Peripheral neuropathy Fasting hyperinsulinemia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Epidermal acanthosis Hyperkeratosis Nail dysplasia Abdominal distention High, narrow palate Thick vermilion border Hirsutism Wide mouth Low-set, posteriorly rotated ears Macrotia Inguinal hernia Hypoglycemic encephalopathy Hernia Recurrent infections Dysphagia Skeletal muscle atrophy Low-set ears Increased C-peptide level Abnormality of acetylcarnitine metabolism Increased circulating free fatty acid level Abnormality of the dentition Intellectual disability, mild Abdominal obesity Sleep apnea Emotional lability Radial deviation of finger Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Albinism Spontaneous abortion Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Clumsiness Primary amenorrhea Cutaneous photosensitivity Psychosis Inflammation of the large intestine Skeletal muscle hypertrophy Narrow forehead Central hypotonia Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Abnormality of lipid metabolism Truncal obesity Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge External genital hypoplasia Decreased fetal movement Abnormality of the cardiovascular system Kyphosis Micropenis Abnormality of the pinna Apnea Abnormality of the nervous system Photophobia Thin upper lip vermilion Osteopenia Narrow mouth Autism Respiratory failure Stroke Hyperactivity Osteoporosis Prominent forehead Hyporeflexia Clinodactyly Dilatation Syndactyly Short nose Respiratory tract infection Pruritus Amenorrhea Tapered finger Specific learning disability Hip dysplasia Febrile seizures Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Sleep disturbance Short foot Hypermetropia Small hand Downturned corners of mouth Short palm Polymicrogyria Arachnodactyly Infertility Genu valgum Carious teeth Abnormal eating behavior


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