Edema, and Hyperinsulinemia

Diseases related with Edema and Hyperinsulinemia

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

Top matches:

Low match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Low match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Other less relevant matches:

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

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).

Related symptoms:

  • Seizures
  • Pain
  • Hypertension
  • Edema
  • Hypoglycemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD

Insulin (INS ) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by Warren-Perry et al., 1997).

Related symptoms:

  • Diabetes mellitus
  • Hypoglycemia
  • Insulin resistance
  • Hyperinsulinemia
  • Hyperglycemia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERPROINSULINEMIA

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency|pfic5

Related symptoms:

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5

Top 5 symptoms//phenotypes associated to Edema and Hyperinsulinemia

Symptoms // Phenotype % cases
Hypoglycemia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Glucose intolerance Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Hyperinsulinemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diabetes mellitus Failure to thrive Muscular hypotonia Neoplasm Hyperglycemia Growth delay Hypertension Abnormality of the cardiovascular system Micrognathia Short nose Global developmental delay Pain Hepatic failure Insulin resistance

Rare Symptoms - Less than 30% cases

High palate Increased body weight Hypermetropia Scoliosis Dolichocephaly Muscular hypotonia of the trunk Hypertelorism Ascites Narrow mouth Abnormal facial shape Delayed puberty Prominent forehead Osteoporosis Macroglossia Hypospadias Round face Specific learning disability Overgrowth Myopathy Sepsis Full cheeks Agenesis of corpus callosum Depressed nasal bridge Abnormality of the dentition Cryptorchidism Retrognathia Epicanthus Intellectual disability, severe Abnormality of the kidney Abnormality of the liver Talipes equinovarus Hyperinsulinemic hypoglycemia Protein-losing enteropathy Cirrhosis Type II diabetes mellitus Type I transferrin isoform profile Gastrointestinal hemorrhage Reduced antithrombin III activity Reduced factor XI activity Short stature Apnea Abnormality of the coagulation cascade Abnormal intestine morphology Vomiting Strabismus Hepatomegaly Hepatic fibrosis Coma Abnormality of the pinna Intrauterine growth retardation Small hand Downturned corners of mouth Short foot Autism Weight loss Tapered finger Short palm Respiratory tract infection Polymicrogyria Arachnodactyly Infertility Genu valgum Carious teeth Thin upper lip vermilion Pruritus Photophobia Neonatal hypotonia Leukemia Abnormality of the nervous system Stroke Attention deficit hyperactivity disorder Osteopenia Behavioral abnormality Micropenis Bird-like facies Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Mottled pigmentation Foamy urine Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Progressive clavicular acroosteolysis Stiff elbow Respiratory failure Kyphosis Hyperactivity Hypogonadism Upslanted palpebral fissure Recurrent respiratory infections Hyporeflexia Clinodactyly Obesity Dilatation Syndactyly Intellectual disability, mild Nystagmus Hypopigmentation of the skin Congestive heart failure Ventriculomegaly Fever Myopia Motor delay Delayed speech and language development Feeding difficulties Cognitive impairment Sleep disturbance Precocious puberty Esotropia Frontal upsweep of hair Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Almond-shaped palpebral fissure Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Hypopnea Poor gross motor coordination Oligomenorrhea Inappropriate antidiuretic hormone secretion Micronodular cirrhosis Prolonged prothrombin time Conjugated hyperbilirubinemia Intrahepatic cholestasis Hyperammonemia Hyperbilirubinemia Cholestasis Elevated hepatic transaminase Jaundice Decreased serum creatinine Acromicria Elevated systolic blood pressure Hypernatriuria Decreased circulating renin level Muscle fibrillation Hyponatremia Generalized-onset seizure Confusion Lethargy Irritability Acrocyanosis Overweight Growth hormone deficiency Bradycardia Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Aortic valve stenosis Clumsiness Nasal speech Primary amenorrhea Cutaneous photosensitivity Psychosis Decreased fetal movement Oligohydramnios Narrow forehead Amenorrhea Hip dysplasia Febrile seizures Poor suck Failure to thrive in infancy Central hypotonia Polyphagia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge External genital hypoplasia Vertebral compression fractures Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Calcinosis Nephrotic syndrome Osteolytic defects of the phalanges of the hand Hydronephrosis Congenital diaphragmatic hernia Hypoplasia of penis Abdominal distention High, narrow palate Flat face Smooth philtrum Hyperlordosis Deeply set eye Lumbar hyperlordosis Hepatosplenomegaly High forehead Polyhydramnios Posteriorly rotated ears Inguinal hernia Hernia Cerebral atrophy Cardiomegaly Status epilepticus Respiratory distress Neurodevelopmental delay Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Capillary hemangioma Enlarged kidney Hamartoma Global brain atrophy Open mouth Large for gestational age Nephroblastoma Polycystic kidney dysplasia Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Tall stature Renal dysplasia Renal insufficiency Anteverted nares Thickened helices Villous atrophy Secretory diarrhea Intestinal lymphangiectasia Microvesicular hepatic steatosis Enterocolitis Abnormal thrombosis Congenital hepatic fibrosis Generalized edema Hypoproteinemia Ataxia Hypoalbuminemia Lymphedema Chronic diarrhea Abnormal bleeding Hepatic steatosis Malabsorption Diarrhea Anemia Lymphangiectasis Dysarthria Macrocephaly Alopecia of scalp Wide nasal bridge Low-set ears Ptosis Cleft palate Elevated serum transaminases during infections Increased serum testosterone level Frontal balding Partial agenesis of the corpus callosum Tremor Polycystic ovaries Cerebral visual impairment Broad-based gait Intention tremor Dysmetria Areflexia Recurrent infections Blindness Hypoxemia Visceromegaly Progeroid facial appearance Sparse scalp hair Acanthosis nigricans Osteolysis Wormian bones Hyperpigmentation of the skin Dental crowding Large fontanelles Thin skin Hypertriglyceridemia Hyperlipidemia Epidermal acanthosis Convex nasal ridge Abnormality of the skin Dental malocclusion Short distal phalanx of finger Abnormality of skin pigmentation Hypotrichosis Atherosclerosis Dermal atrophy Muscular dystrophy Spinal rigidity Down-sloping shoulders Narrow nose Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Reduced subcutaneous adipose tissue Lipodystrophy Hypermelanotic macule Delayed cranial suture closure High pitched voice Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Nail dystrophy Scarring Interrupted aortic arch Nephroblastomatosis Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Thymus hyperplasia Small for gestational age Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Prominent xiphoid process Dehydration Sparse hair Alopecia Paralysis Joint stiffness Postnatal growth retardation Proximal muscle weakness Rigidity Proptosis Hyperkeratosis Abnormality of the skeletal system Severe intrauterine growth retardation Flexion contracture Cataract Muscle weakness Hearing impairment Hypoinsulinemia Transient neonatal diabetes mellitus Premature atrial contractions Severe failure to thrive Intraventricular hemorrhage


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