Autoimmunity, and Osteopenia

Diseases related with Autoimmunity and Osteopenia

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match GNATHODIAPHYSEAL DYSPLASIA


Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.

GNATHODIAPHYSEAL DYSPLASIA Is also known as gdd|gnathodiaphyseal sclerosis|osteogenesis imperfecta with unusual skeletal lesions

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Recurrent fractures
  • Bowing of the long bones
  • Sinusitis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNATHODIAPHYSEAL DYSPLASIA

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4


Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Osteopenia

Symptoms // Phenotype % cases
Osteoporosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Growth delay Delayed skeletal maturation Recurrent infections Diarrhea Kyphosis Splenomegaly Renal insufficiency Thrombocytopenia Hepatomegaly Gliosis Corneal opacity Anemia Hypertelorism Cognitive impairment Hepatosplenomegaly Hypothyroidism Depressivity Fever Congestive heart failure Immunodeficiency Vomiting Hypertension Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Bowing of the legs Osteomyelitis Thyroiditis Abnormality of the thyroid gland Glomerulopathy Inflammation of the large intestine Hepatitis Scarring Pathologic fracture Glomerulonephritis Pain Type I diabetes mellitus Encephalitis Pneumonia Hirsutism Abnormality of the dentition Cerebellar atrophy Short neck Myopia Motor delay Depressed nasal bridge Seizures Hypermelanotic macule Myopathy Gingival overgrowth Hypertrichosis Bulbous nose Recurrent respiratory infections Arthritis Coarse facial features Kyphoscoliosis Skeletal dysplasia Frontal bossing Gait disturbance Cataract Generalized osteoporosis Villous atrophy Fine hair Bowing of the long bones Lymphopenia Pancreatitis Global developmental delay Neoplasm Histiocytosis Confusion Jaundice Malabsorption Bruising susceptibility Stage 5 chronic kidney disease Proximal muscle weakness Cirrhosis Coma Intellectual disability, severe Fatigue Generalized hypotonia Weight loss Muscular hypotonia Recurrent fractures Brain atrophy Diaphyseal cortical sclerosis Presenile cataracts Limb-girdle muscle atrophy Sensorineural hearing impairment Spasticity Delayed speech and language development Cerebral atrophy Malar flattening Epicanthus Intellectual disability, mild Hyperreflexia Optic atrophy Talipes equinovarus Abnormality of the skeletal system Behavioral abnormality Dysarthria Fibrosarcoma Macrocephaly Hydrocephalus Ventriculomegaly Polyostotic fibrous dysplasia Inguinal hernia Midface retrusion Sarcoma Pectus carinatum Respiratory tract infection Dorsocervical fat pad Mental deterioration Primary hypercortisolism Anxiety Umbilical hernia Macronodular adrenal hyperplasia Limb muscle weakness Thin skin Macrotia Hernia Mandibular prognathia Premature graying of hair Soft skin Gait ataxia Prominent forehead Limb-girdle muscle weakness Osteosarcoma Fractures of the long bones Babinski sign Nystagmus Areflexia Strabismus Moyamoya phenomenon Ataxia Emphysema Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Lymphoproliferative disorder Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia B-cell lymphoma Cerebral ischemia Hearing impairment Steroid-resistant nephrotic syndrome Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Neurological speech impairment Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Multiple lentigines Precocious atherosclerosis Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Metaphyseal striations Histiocytoma Patchy osteosclerosis Cellular immunodeficiency Stenosis of the medullary cavity of the long bones Dentinogenesis imperfecta Subvalvular aortic stenosis Broad forehead Highly arched eyebrow Abnormality of the cerebral white matter Abnormal cornea morphology Increased body weight Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Acne Abnormal echocardiogram Synovitis Emotional lability Synostosis of joints Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Cerebral dysmyelination Oligosacchariduria Aseptic necrosis Flattened moderately deformed vertebrae Ossifying fibroma Broad jaw Diaphyseal sclerosis Thickened cortex of long bones Fibroma Obesity Increased susceptibility to fractures Increased bone mineral density Sinusitis Spinocerebellar tract disease in lower limbs Synovial hypertrophy Spondylolysis Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Alopecia Increased hepatic glycogen content Increased vertebral height Severe sensorineural hearing impairment Limb dystonia Hypermetropia Decreased antibody level in blood Progressive neurologic deterioration Depressed nasal ridge Adrenocortical adenoma Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Otitis media Moon facies Tall stature Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Neurodegeneration Mandibular osteomyelitis Thick eyebrow Retinal degeneration Dysmetria Genu valgum Abnormality of the foot Abdominal obesity Ecchymosis Bronchitis Prominent supraorbital ridges Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Glucose intolerance Flat occiput Heart murmur Chronic otitis media Opacification of the corneal stroma Amblyopia Increased intracranial pressure Fragile skin Increased circulating cortisol level Adrenal hyperplasia Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Atherosclerosis Thin metatarsal cortices Bone marrow hypocellularity Portal hypertension Cholangitis Cholestatic liver disease Ulcerative colitis Acute hepatic failure Hepatocellular carcinoma Uveitis Amyloidosis Celiac disease Generalized amyotrophy Pleural effusion Cholelithiasis Vitamin D deficiency Hypoalbuminemia Hepatic fibrosis Cholestasis Ascites Pruritus Abnormality of the liver Elevated hepatic transaminase Abdominal pain Encephalopathy Asterixis Argininuria Prolonged prothrombin time Abnormal eosinophil morphology Protein avoidance Recurrent systemic pyogenic infections Inflammatory abnormality of the skin Pulmonary arterial hypertension Eczema Sepsis Hemolytic anemia Delayed puberty Carcinoma Dilatation Adenocarcinoma of the large intestine Dilated superficial abdominal veins Neoplasm of the gallbladder Sclerosing cholangitis 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 Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Ornithinuria Pulmonary hemorrhage Purpura Dehydration Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Hypotension Failure to thrive Growth hormone deficiency Syncope Wide nose Vertigo Dry skin Lethargy Irritability Constipation Abnormality of metabolism/homeostasis Long philtrum Short nose Germinoma Feeding difficulties Oroticaciduria Hyperammonemia Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Truncal obesity Malnutrition Abnormality of the coagulation cascade Systemic lupus erythematosus Hyperextensible skin Cutis laxa Respiratory insufficiency Leukopenia Aminoaciduria Aciduria Increased serum lactate Abnormal bleeding Postural instability Metabolic acidosis Nausea Nausea and vomiting Sparse hair Acidosis Bronchiectasis Abnormal intestine morphology Abnormality of epiphysis morphology Thin metacarpal cortices Cardiomyopathy Intrauterine growth retardation Abnormal facial shape Sclerotic cranial sutures Distal tapering of metatarsals Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Carpal osteolysis Dementia Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Headache Thin upper lip vermilion Vertebral compression fractures Premature birth Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Migraine Proteinuria Abnormal cerebellum morphology Neutropenia Nephropathy Abnormality of skin pigmentation Astigmatism Platyspondyly Hip dislocation Stroke Hyperlordosis Developmental regression Abnormality of the kidney Delayed closure of the anterior fontanelle Antinuclear antibody positivity Leukoencephalopathy Primary hypothyroidism Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Medial calcification of large arteries Enterocolitis Immune dysregulation Chronic mucocutaneous candidiasis Abnormality of the endocrine system Dilatation of the cerebral artery Hashimoto thyroiditis Pulmonary embolism Autoimmune thrombocytopenia Autoimmune hemolytic anemia Patent foramen ovale Recurrent upper respiratory tract infections Esophageal carcinoma Abnormal serum interferon-gamma level Ankylosis Subcutaneous nodule Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the ear Abnormality of the thorax Metaphyseal widening Osteolysis Knee flexion contracture Thickened skin Decreased body weight Split hand Micrognathia Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Pes planus Arthralgia Proptosis Brachycephaly Pes cavus Brachydactyly Flexion contracture Osteomyelitis leading to amputation due to slow healing fractures



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