Autoimmunity, and Weight loss

Diseases related with Autoimmunity and Weight loss

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


Top matches:

Medium match BULLOUS PEMPHIGOID


Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

Related symptoms:

  • Recurrent infections
  • Diabetes mellitus
  • Weight loss
  • Erythema
  • Autoimmunity


SOURCES: ORPHANET MESH MENDELIAN

More info about BULLOUS PEMPHIGOID

Medium 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

Medium match FAMILIAL GESTATIONAL HYPERTHYROIDISM


Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

Mendelian

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

Learn more

Other less relevant matches:

Medium match NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY


Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).A clinically similar disorder characterized by respiratory distress (OMIM ) can affect preterm infants, who show developmental deficiency of surfactant.Acquired PAP (OMIM ) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (OMIM ). Genetic Heterogeneity of Pulmonary Surfactant Metabolism DysfunctionSee also SMDP2 (OMIM ), caused by mutation in the SPTPC gene (OMIM ) on 8p21; SMDP3 (OMIM ), caused by mutation in the ABCA3 gene (OMIM ) on 16p13; SMDP4 (OMIM ), caused by mutation in the CSF2RA gene (OMIM ) on Xp22; and SMDP5 (OMIM ), caused by mutation in the CSF2RB gene (OMIM ) on 22q12.

NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY Is also known as neonatal acute respiratory distress due to surfactant protein b deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant protein b deficiency|interstitial lung disease, nonspecific, due to surfactant protein b d

Related symptoms:

  • Failure to thrive
  • Pain
  • Hypertension
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY

Medium match FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Medium match IMMUNODEFICIENCY 27A; IMD27A


Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

IMMUNODEFICIENCY 27A; IMD27A Is also known as ifngr1 deficiency, autosomal recessive|immunodeficiency 27a, mycobacteriosis, autosomal recessive

Related symptoms:

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 27A; IMD27A

Medium match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Medium match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Medium match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Top 5 symptoms//phenotypes associated to Autoimmunity and Weight loss

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Thyrotoxicosis with diffuse goiter Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Weight loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tachycardia Fever Dyspnea Hyperthyroidism Graves disease Vomiting Goiter Proptosis

Rare Symptoms - Less than 30% cases


Hand tremor Agitation Autoimmune antibody positivity Activating thyroid-stimulating hormone receptor defect Thyroid hyperplasia Respiratory distress Diabetes mellitus Chest pain Arthritis Pulmonary arterial hypertension Ventricular hypertrophy Abdominal pain Arthralgia Sleep disturbance Nausea Pulmonary infiltrates Erythema Urticaria Constipation Dysphagia Muscle weakness Elevated erythrocyte sedimentation rate Nausea and vomiting Tachypnea Xerostomia Tremor Hyperactivity Hyperhidrosis Motor delay Episodic hypokalemia Gastroesophageal reflux Renal insufficiency Increased intramyocellular lipid droplets Periodic hypokalemic paresis Congestive heart failure Flexion contracture Second degree atrioventricular block Exercise-induced muscle fatigue Late-onset proximal muscle weakness Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Respiratory paralysis Episodic flaccid weakness Thyrotoxicosis with toxic multinodular goitre Recurrent infections Shortened PR interval Thyroiditis Hypokalemia Ophthalmoparesis Myotonia Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Rhabdomyolysis Hashimoto thyroiditis Impaired myocardial contractility Hypomagnesemia Heat intolerance Abnormality of peripheral nerve conduction Malabsorption Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Carious teeth Paresthesia Abnormality of the skin Dermatographic urticaria Upper airway obstruction Lymphoproliferative disorder Multiple myeloma Abnormality of the larynx Ovarian cyst Chronic lymphatic leukemia Inspiratory stridor Angioedema Facial edema Edema of the dorsum of hands Stridor Cryoglobulinemia Abnormal soft palate morphology Abnormal respiratory system morphology Pharyngeal edema Intestinal edema Abnormality of the uvula Tongue edema Abnormal epiglottis morphology Laryngeal edema Limbal edema Axonal degeneration Glomerulonephritis Telangiectasia Hypertensive crisis Skin ulcer Osteolysis Pulmonary fibrosis Telangiectasia of the skin Scleroderma Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Narrow foramen obturatorium Systemic lupus erythematosus Abnormal bowel sounds Peripheral neuropathy Edema Leukemia Muscle stiffness Peripheral axonal neuropathy Hypotension Hoarse voice Vasculitis Polycystic ovaries EMG abnormality Papule Palpitations Foam cells Abnormal lung morphology Clubbing Neonatal respiratory distress Interstitial pulmonary abnormality Hemoptysis Hyperventilation Right ventricular hypertrophy Hypoxemia Interstitial pneumonitis Cough Productive cough Alveolar proteinosis Nonproductive cough Desquamative interstitial pneumonitis Intellectual disability Global developmental delay Delayed speech and language development Small for gestational age Cyanosis Apnea Accelerated skeletal maturation Hyperglycemia Abnormal blistering of the skin Eczema Psoriasiform dermatitis Macule Type II diabetes mellitus Insulin resistance Type I diabetes mellitus Polydipsia Polyuria Respiratory failure Ketosis Ketoacidosis Diabetic ketoacidosis Beta-cell dysfunction Spontaneous abortion Hyperemesis gravidarum Failure to thrive Fatigue Respiratory insufficiency Premature birth Abnormal eye morphology Tetraplegia Episodic fever Camptodactyly Skin rash Asthma Inflammatory abnormality of the skin Nephrolithiasis Blurred vision Keratoconjunctivitis sicca Pericarditis Uveitis Abnormal bronchus physiology Episodic abdominal pain Oral ulcer Pleuritis Hyperreflexia Obesity Hyporeflexia Paralysis Lower limb muscle weakness Muscle cramps Myalgia Enlarged mesenteric lymph node Eyelid retraction Hypoalbuminemia Pretibial myxedema Anemia Splenomegaly Immunodeficiency Pneumonia Hepatosplenomegaly Lymphadenopathy Anorexia Leukocytosis Salmonella osteomyelitis Thrombocytosis Abnormality of abdomen morphology Night sweats Histiocytosis Chronic infection Increased IgM level Increased IgG level Hypoplasia of the femoral head Rheumatoid factor positive Abnormality of salivation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Craniosynostosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more