Autoimmunity, and Osteoporosis

Diseases related with Autoimmunity and Osteoporosis

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


Top matches:

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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Other less relevant matches:

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

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 PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1


Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH ) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010).Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). Genetic Heterogeneity of Hypocalciuric HypercalcemiaFamilial hypocalciuric hypercalcemia type II (HHC2 ) is caused by mutation in the GNA11 gene (OMIM ) on chromosome 19p13, and HHC3 (OMIM ) is caused by mutation in the AP2S1 gene (OMIM ) on chromosome 19q13.

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 Is also known as hhc|familial benign hypercalcemia 1|hypercalcemia, familial benign|fhh|fbh1|fhh1

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Renal insufficiency
  • Headache


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1

Top 5 symptoms//phenotypes associated to Autoimmunity and Osteoporosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Abnormality of the thyroid gland Thyroiditis Pancreatitis Hepatitis Arthralgia Jaundice Seizures Cirrhosis Malabsorption Renal insufficiency Scarring Celiac disease Anemia Depressivity Diabetes mellitus Neoplasm Vomiting Confusion Abdominal pain Pain Type I diabetes mellitus Irritability Hypothyroidism

Rare Symptoms - Less than 30% cases


Recurrent infections Dilatation Pes planus Flexion contracture Arthritis Micrognathia Cataract Brachydactyly Scoliosis Nausea and vomiting Cerebral calcification Cholestatic liver disease Fine hair Hyperextensible skin Delayed skeletal maturation Prolonged prothrombin time Inflammatory abnormality of the skin Hypoplasia of dental enamel Delayed puberty Hypocalcemia Anxiety Elevated hepatic transaminase Failure to thrive Abnormal intestine morphology Abnormality of the coagulation cascade Malnutrition Delayed eruption of teeth Thrombocytopenia Vitamin D deficiency Vitamin K deficiency Cognitive impairment Hepatomegaly Hypermelanotic macule Generalized osteoporosis Cutis laxa Osteolysis Splenomegaly Gingival overgrowth Cholangitis Hypocalcemic seizures Eczema Pruritus Congestive heart failure Growth hormone deficiency Cholestasis Ascites Hepatosplenomegaly Cholelithiasis Abnormality of the liver Hypoalbuminemia Encephalopathy Hypertension Inflammation of the large intestine Polydipsia Polyuria Histiocytosis Hepatic fibrosis Abdominal distention Orthostatic hypotension Growth delay Constipation Hypertelorism Hepatocellular carcinoma Antinuclear antibody positivity Coma Osteomalacia Portal hypertension Fever Hirsutism Purpura Global developmental delay Small hand Lymphopenia Hypoplasia of the maxilla Interphalangeal joint contracture of finger Bulbous nose Narrow nasal bridge Hypertrichosis Abnormality of the ear Split hand Subcutaneous nodule Immunodeficiency Sepsis Decreased body weight Recurrent respiratory infections Bronchiectasis Thickened skin Knee flexion contracture Carcinoma Metaphyseal widening Corneal opacity Hemolytic anemia Pulmonary arterial hypertension Abnormality of the thorax Pneumonia Villous atrophy Coarse facial features Abnormality of the endocrine system Carotid artery dilatation Functional abnormality of the bladder Hashimoto thyroiditis Dilatation of the cerebral artery Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Recurrent Aspergillus infections Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Immune dysregulation Pulmonary embolism Susceptibility to herpesvirus Kyphoscoliosis Pes cavus Leukoencephalopathy Proptosis Brachycephaly Recurrent upper respiratory tract infections Encephalitis Chronic mucocutaneous candidiasis Autoimmune hemolytic anemia Oropharyngeal squamous cell carcinoma Autoimmune thrombocytopenia Kyphosis Frontal bossing Gait disturbance Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Patent foramen ovale Sclerotic cranial sutures Arthropathy Hypocalcemic tetany Pituitary resistance to thyroid hormone Osteoma cutis Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Broad distal phalanx of the thumb Short fifth metatarsal Short 3rd metacarpal Abdominal symptom Ectopic ossification Myoclonic spasms Nephrolithiasis Prolactin deficiency Pseudohypoparathyroidism Laryngeal dystonia Short 5th metacarpal Constrictive median neuropathy Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Short 4th metacarpal Headache Nephrocalcinosis Oligomenorrhea Primary hyperparathyroidism Hypomagnesiuria Parathormone-independent increased renal tubular calcium reabsorption Renal hypophosphatemia Hypermagnesemia Vascular calcification Infantile hypercalcemia Hypocalciuria Parathyroid hyperplasia Peptic ulcer Parathyroid adenoma Hypercalciuria Chondrocalcinosis Neoplasm of the endocrine system Hypomagnesemia Renal tubular dysfunction Episodic abdominal pain Lipoma Hyperparathyroidism Multiple lipomas Hypercalcemia Hyperphosphatemia Basal ganglia calcification Hip contracture C1-C2 subluxation Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling Contractures of the large joints Peripheral opacification of the cornea Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Vertebral compression fractures Ankylosis Ankle contracture Ankylosis of feet small joints Thin metatarsal cortices Polyphagia Muscle cramps Prolonged QT interval Short metatarsal Conjunctivitis Hypergonadotropic hypogonadism Increased bone mineral density Short metacarpal Round face Chest pain Full cheeks Paresthesia Distal tapering of metatarsals Dyspnea Hypogonadism Hyporeflexia Obesity Short neck Abnormality of the skeletal system Depressed nasal bridge Nystagmus Dilated superficial abdominal veins Adenocarcinoma of the large intestine Brain atrophy Recurrent systemic pyogenic infections Microdontia Vasculitis Hoarse voice Tall stature Mitral regurgitation Thin skin Osteoarthritis Blue sclerae Bruising susceptibility Dermal atrophy Joint hypermobility Arachnodactyly Joint hyperflexibility Carious teeth Erythema Joint laxity Umbilical hernia Inguinal hernia Joint dislocation Urticaria Abnormality of the dentition Soft skin Poor wound healing Premature loss of primary teeth Chronic pain Mitral stenosis Generalized joint laxity Periodontitis Gingivitis Subarachnoid hemorrhage Agenesis of permanent teeth Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Atrophic scars Hernia Edema Palmoplantar cutis laxa Hypotension Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Enuresis Diabetes insipidus Dehydration Syncope Germinoma Gliosis Wide nose Vertigo Dry skin Lethargy Abnormality of metabolism/homeostasis Long philtrum Short nose Abnormality of the anterior pituitary Hepatic failure Abnormality of the intrahepatic bile duct Fat malabsorption Dermatographic urticaria Increased IgM level Gastrointestinal inflammation Onychomycosis Increased IgA level Recurrent fungal infections Hepatic encephalopathy Biliary cirrhosis Sleep disturbance Conjugated hyperbilirubinemia Allergy Excessive daytime somnolence Xerostomia Abnormality of lipid metabolism Keratoconjunctivitis sicca Elevated alkaline phosphatase Hyperpigmentation of the skin Cigarette-paper scars Premature loss of permanent teeth Neoplasm of the gallbladder Hemophagocytosis Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Increased serum ferritin Argininuria Glomerulopathy Truncal obesity Glomerulonephritis Systemic lupus erythematosus Hyperammonemia Leukopenia Aminoaciduria Aciduria Ornithinuria Asterixis Abnormal bleeding Vitamin A deficiency Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Palmar telangiectasia Abnormal biliary tract morphology Chronic hepatic failure Cholangiocarcinoma Pleural effusion Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Ulcerative colitis Acute hepatic failure Uveitis Amyloidosis Generalized amyotrophy Increased serum lactate Postural instability Gingival recession Nevus IgA deficiency Macrocytic anemia Steatorrhea Rickets Spontaneous abortion Chronic diarrhea Lymphoma Polyneuropathy Thrombocytosis Infertility Postnatal growth retardation Alopecia Ataxia Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Iron deficiency anemia Chronic fatigue Recurrent fractures Skeletal muscle atrophy Metabolic acidosis Nausea Stage 5 chronic kidney disease Sparse hair Acidosis Intellectual disability, severe Respiratory insufficiency Feeding difficulties Prolonged partial thromboplastin time Muscular hypotonia Muscle weakness Generalized hypotonia Vitamin B12 deficiency Folate deficiency Abnormality of the abdominal wall Recurrent aphthous stomatitis Stomatitis Reduced ratio of renal calcium clearance to creatinine clearance



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