Autoimmunity, and Increased body weight

Diseases related with Autoimmunity and Increased body weight

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


Top matches:

Low match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

Low 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

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Other less relevant matches:

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Low match LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Increased body weight

Symptoms // Phenotype % cases
Obesity Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Increased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Prolonged QT interval Muscle cramps Myoclonic spasms Hyperphosphatemia Calcinosis Elevated circulating parathyroid hormone level Laryngeal dystonia Pseudohypoparathyroidism Hypocalcemic seizures Seizures Hypocalcemic tetany Abdominal symptom Cognitive impairment Pituitary resistance to thyroid hormone Thrombocytopenia Splenomegaly Diarrhea Hepatomegaly Anemia Low urinary cyclic AMP response to PTH administration Autoimmune antibody positivity Reduced bone mineral density Brachydactyly Depressivity Dyspnea Anxiety Irritability Conjunctivitis Paresthesia Delayed eruption of teeth Short neck Cataract Full cheeks Chest pain Round face Short metacarpal Growth hormone deficiency Nystagmus Hypoplasia of dental enamel Increased bone mineral density Hypocalcemia

Rare Symptoms - Less than 30% cases


Pruritus Hypothyroidism Skin rash Papule Systemic lupus erythematosus Dry skin Inflammatory abnormality of the skin Erythema Recurrent infections Hyperhidrosis Intellectual disability, severe Vomiting Renal insufficiency Osteoporosis Psoriasiform dermatitis Failure to thrive Hepatosplenomegaly Constrictive median neuropathy Short 5th metacarpal Prolactin deficiency Proptosis Weight loss Ectopic ossification Short 3rd metacarpal Short fifth metatarsal Hypertension Muscle weakness Broad distal phalanx of the thumb Choroid plexus calcification Osteoma cutis Short 4th metacarpal Hashimoto thyroiditis Oligomenorrhea Basal ganglia calcification Polyphagia Hypergonadotropic hypogonadism Cerebral calcification Thyroiditis Confusion Truncal obesity Short metatarsal Diffuse telangiectasia Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Crusting erythematous dermatitis Hypogonadism Ectopic calcification Recurrent cystitis Abnormality of the skeletal system Diaphyseal sclerosis Increased antibody level in blood Hyperparathyroidism Tetany Elevated calcitonin Asterixis Urticaria Eczema Abnormal blistering of the skin Diabetes mellitus Broad 1st metacarpal Abnormality of the dentition Hyperostosis frontalis interna Abnormal platelet function Hearing impairment Band keratopathy Spinal cord compression Dyskinesia Thickened calvaria Involuntary movements Choreoathetosis Sensorineural hearing impairment Strabismus Global developmental delay Micrognathia Hypertelorism Abnormal lung morphology Concave nasal ridge Ornithinuria Chronic lung disease Low posterior hairline Cutaneous photosensitivity Depressed nasal ridge Hypoplasia of the zygomatic bone Thin skin Prolonged neonatal jaundice Abnormality of the immune system Abnormality of retinal pigmentation Abnormality of the middle ear Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Lymphedema Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Recurrent pneumonia Generalized hirsutism Abnormality of the fingernails Petechiae White forelock Hepatitis Osteomyelitis Prominent forehead Abnormal facial shape Ptosis High palate Delayed speech and language development Visual impairment Downslanted palpebral fissures Intellectual disability, mild Short nose Malar flattening Abnormality of metabolism/homeostasis Recurrent respiratory infections Hyperkeratosis Poliosis High forehead Elevated hepatic transaminase Carious teeth Genu valgum Arachnodactyly Hirsutism Facial hirsutism Palmoplantar keratoderma Asthma Convex nasal ridge Dehydration Argininuria Leukopenia Protein avoidance Late-onset proximal muscle weakness Rhabdomyolysis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Respiratory paralysis Mildly elevated creatine phosphokinase Fever Hypotrichosis Severe short stature Alopecia Pneumonia Immunodeficiency Edema Thyrotoxicosis with toxic multinodular goitre Episodic flaccid weakness Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Hyperthyroidism Hyperkalemia Sepsis Hemihypertrophy Follicular hyperplasia Hypoglycemic coma Nonketotic hypoglycemia Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Flushing Enlarged tonsils Neonatal hypoglycemia Large for gestational age Gynecomastia Generalized-onset seizure Overgrowth Hypoglycemia Increased hepatic glycogen content Increased circulating free fatty acid level Ventricular fibrillation Palpitations Myotonia Ophthalmoparesis Hypokalemia Goiter EMG abnormality Muscle stiffness Tetraplegia Abnormal circulating insulin level Tachycardia Lower limb muscle weakness Paralysis Constipation Tremor Hyperreflexia Lymphadenopathy Lymphoma Pulmonary hemorrhage Fine hair Sparse hair Malabsorption Nausea and vomiting Stage 5 chronic kidney disease Nausea Cirrhosis Metabolic acidosis Coma Recurrent fractures Postural instability Abnormal bleeding Brain atrophy Increased serum lactate Aciduria Aminoaciduria Osteopenia Increased serum ferritin Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Glomerulopathy Pancreatitis Malnutrition Abnormality of the coagulation cascade Glomerulonephritis Hyperextensible skin Hyperammonemia Cutis laxa Jaundice Acidosis Nephrotic syndrome Disproportionate short-limb short stature Aplasia/Hypoplasia of the eyebrow Combined immunodeficiency Leukocytosis Erythroderma Scaling skin Eosinophilia Shock Hypoproteinemia Recurrent bacterial infections Short toe Chronic diarrhea Thickened skin Abnormality of the metaphysis Severe combined immunodeficiency Recurrent viral infections Delayed skeletal maturation Desquamation of skin soon after birth Respiratory insufficiency Skeletal muscle atrophy Feeding difficulties Muscular hypotonia Generalized hypotonia Severe B lymphocytopenia Abnormal lymphocyte morphology Hypoplasia of the thymus Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Cellular immunodeficiency Macule



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