Autoimmunity, and Insulin resistance

Diseases related with Autoimmunity and Insulin resistance

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


Top matches:

Low match DIABETES MELLITUS, KETOSIS-PRONE; KPD


In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).

Related symptoms:

  • Diabetes mellitus
  • Weight loss
  • Autoimmunity
  • Type II diabetes mellitus
  • Insulin resistance


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIABETES MELLITUS, KETOSIS-PRONE; KPD

Low match DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM


The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM Is also known as diabetes mellitus, type i|jod|juvenile-onset diabetes

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Autoimmunity
  • Nephropathy
  • Type II diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS


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

Low match TRANSIENT NEONATAL DIABETES MELLITUS


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

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


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

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Insulin resistance

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hyperglycemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nephropathy Failure to thrive Motor delay Weight loss Global developmental delay Dehydration Peripheral neuropathy Hypertension Ketoacidosis Polyuria Polydipsia Beta-cell dysfunction Type II diabetes mellitus Intrauterine growth retardation Insulin-resistant diabetes mellitus Type I diabetes mellitus Cognitive impairment Generalized tonic-clonic seizures Autoimmune antibody positivity Lipodystrophy Polycystic ovaries Arthrogryposis multiplex congenita Hypertriglyceridemia Downturned corners of mouth Alopecia Polyphagia Glycosuria Prominent metopic ridge Bilateral ptosis Hirsutism Hepatic steatosis Hyperlipidemia

Rare Symptoms - Less than 30% cases


Delayed speech and language development Transient neonatal diabetes mellitus Pancreatic hypoplasia Sensorineural hearing impairment Scoliosis Elevated hemoglobin A1c Hypovolemia Autoimmune thrombocytopenia Contractures of the joints of the lower limbs Congestive heart failure Vomiting Dilatation Triangular face Cirrhosis Accelerated skeletal maturation Elevated hepatic transaminase Hepatosplenomegaly Acanthosis nigricans Hyperinsulinemia Hyperhidrosis Splenomegaly Clinodactyly Intellectual disability, mild Cardiomyopathy Hepatomegaly Thickened ears Oligomenorrhea Acute pancreatitis Abnormal spermatogenesis Pneumonia Abnormality of the upper urinary tract Apraxia Ketonuria Generalized hirsutism Hypogonadism Abnormality of lipid metabolism Glomerulopathy Lipoatrophy Hypothyroidism Premature ovarian insufficiency Hypertrichosis Dystonia Proteinuria Sparse hair Decreased testicular size Hypotrichosis Delayed puberty Ketosis Renal tubular dysfunction Epidermal acanthosis Hypergonadotropic hypogonadism Abnormal heart morphology Neurodevelopmental delay Retinopathy Generalized myoclonic seizures Coma Ataxia Muscular hypotonia Hypogonadotrophic hypogonadism Retinal atrophy Progressive sensorineural hearing impairment Pericardial effusion Aplasia/Hypoplasia of the cerebellum Peripheral visual field loss Agenesis of permanent teeth Alopecia of scalp Hyperventilation Obsessive-compulsive behavior Hyperuricemia Bronchitis Hypoventilation Short finger Pulmonary fibrosis Abnormal retinal morphology Truncal obesity Subcapsular cataract Pericarditis Urinary urgency Hydroureter Thoracic scoliosis Chorioretinal atrophy Increased number of teeth Glucose intolerance Diabetes insipidus Hyperostosis Severe sensorineural hearing impairment Acne Impaired vibratory sensation Constriction of peripheral visual field Emphysema Sinusitis Chronic otitis media Progressive visual loss Recurrent urinary tract infections Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Otitis media Thickened skin Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Retinal dystrophy Hepatic failure Left ventricular hypertrophy Chronic diarrhea Nephritis Macular degeneration Portal hypertension Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Atherosclerosis Absence seizures Anorexia Nephrocalcinosis Increased body weight Horizontal nystagmus Recurrent pneumonia Short toe Gynecomastia Posterior subcapsular cataract Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Abnormality of retinal pigmentation Poor coordination Pyelonephritis Broad foot Albuminuria Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Abnormal muscle tone Multifocal atrial tachycardia Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection ST segment depression Childhood-onset truncal obesity Abnormality of the optic disc Glue ear Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Unilateral breast hypoplasia High-frequency sensorineural hearing impairment Dilatation of the bladder Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level Decreased glomerular filtration rate First degree atrioventricular block Gingivitis Male hypogonadism Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Oligospermia Endocardial fibroelastosis Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Abnormal renal morphology Retinal pigment epithelial atrophy Melena Achromatopsia Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Chills Disinhibition Nausea Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Tachycardia Respiratory distress Stage 5 chronic kidney disease Large hands Generalized lipodystrophy Glioma Bone cyst Abnormality of the ovary Angina pectoris Long foot High pitched voice Skeletal muscle hypertrophy Clitoral hypertrophy Congenital generalized lipodystrophy Nephrolithiasis Tall stature Abnormality of the genital system Hypertrophic cardiomyopathy Umbilical hernia Macrotia Mandibular prognathia Hernia Clinodactyly of the 4th finger Decreased fertility in females Decreased serum leptin Mild global developmental delay Gait disturbance Camptodactyly Mental deterioration High forehead Micropenis Babinski sign Abnormality of metabolism/homeostasis Diarrhea Frontal bossing Downslanted palpebral fissures Prominent umbilicus Dysarthria Hyperreflexia High palate Hypertelorism Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Limb joint contracture Aspiration pneumonia Prominent nasal bridge Progeroid facial appearance Peripheral axonal neuropathy Intellectual disability, severe Loss of subcutaneous adipose tissue from upper limbs Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Membranoproliferative glomerulonephritis Lymphocytosis Microscopic hematuria Neonatal insulin-dependent diabetes mellitus Glomerulonephritis Nephrotic syndrome Hematuria Arthralgia Recurrent infections Immunodeficiency Myopathy Decreased level of 1,5 anhydroglucitol in serum Diabetic ketoacidosis Microalbuminuria Reduced pancreatic beta cells Abnormality of the immune system Muscular hypotonia of the trunk Abnormality of the ear Radial deviation of finger Failure to thrive in infancy Aspiration Progressive neurologic deterioration Hypsarrhythmia Confusion Small for gestational age Abnormality of the nervous system Steatorrhea Long philtrum Short nose Anteverted nares Flexion contracture Ptosis Muscle weakness Generalized hypotonia Abnormality of the pancreatic islet cells Maternal diabetes Protruding ear Abnormality of movement Lymphadenopathy Abdominal pain Pes planus Kyphoscoliosis Gastroesophageal reflux Dyspnea Autism Hyperkeratosis Respiratory failure Polydactyly Myoclonus Photophobia Rod-cone dystrophy Recurrent respiratory infections Constipation Hyporeflexia Patent ductus arteriosus Visual loss Encephalopathy Depressivity Obesity Jaundice Deeply set eye Kyphosis Cough Retinal degeneration Dry skin Infertility Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Dilated cardiomyopathy Nyctalopia Conductive hearing impairment Scarring Abnormality of the liver Autistic behavior Pallor Respiratory tract infection Postnatal growth retardation Irritability Abnormality of the kidney Myalgia Renal insufficiency Behavioral abnormality Sensory neuropathy Sparse scalp hair Heart block Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Purpura Hallucinations Choreoathetosis Primary amenorrhea Decreased serum testosterone level Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Amenorrhea Dental malocclusion Prominent nose Polyneuropathy Anodontia Decreased serum estradiol Abnormality of the dentition Pain Blindness Short neck Respiratory insufficiency Fatigue Optic atrophy Visual impairment Feeding difficulties Cataract Strabismus Abnormal T-wave Nystagmus Growth delay Short stature Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormality of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Bulbous nose, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more