Autoimmunity, and Paresthesia

Diseases related with Autoimmunity and Paresthesia

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

Top matches:

Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

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

Other less relevant matches:

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

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

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Paresthesia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Dyspnea Common - Between 50% and 80% cases
Chest pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Confusion Irritability Depressivity Conjunctivitis Weight loss Short neck Abdominal pain Intellectual disability Short stature Hypocalcemia Respiratory distress Pituitary resistance to thyroid hormone Anxiety Hyporeflexia Obesity Renal insufficiency Brachydactyly Sensorineural hearing impairment Delayed eruption of teeth Vasculitis Depressed nasal bridge Diarrhea Hypertension Arthritis Fatigue Myoclonic spasms Muscle cramps Muscle weakness Pseudohypoparathyroidism Hypocalcemic seizures Abdominal symptom Autoimmune antibody positivity Elevated circulating parathyroid hormone level Full cheeks Calcinosis Hyperphosphatemia Hearing impairment Malabsorption Neoplasm Low urinary cyclic AMP response to PTH administration Increased bone mineral density Round face Short metacarpal Growth hormone deficiency Hypoplasia of dental enamel Laryngeal dystonia Visual loss Headache Hypocalcemic tetany Prolonged QT interval

Rare Symptoms - Less than 30% cases

Pancreatitis Meningitis Venous thrombosis Subcutaneous nodule Glaucoma Cranial nerve paralysis Gangrene Pleural effusion Glomerulopathy Gait disturbance Pericarditis Hemoptysis Pulmonary infiltrates Myositis Cerebral ischemia Gastrointestinal hemorrhage Myocardial infarction Short metatarsal Nausea and vomiting Prolactin deficiency Reduced bone mineral density Cognitive impairment Cerebral calcification Hypergonadotropic hypogonadism Endocarditis Polyphagia Basal ganglia calcification Oligomenorrhea Short 4th metacarpal Constrictive median neuropathy Short 5th metacarpal Ectopic ossification Papule Short 3rd metacarpal Restrictive ventilatory defect Short fifth metatarsal Broad distal phalanx of the thumb Choroid plexus calcification Osteoma cutis Fever Arthralgia Myalgia Retinopathy Stroke Cough Pleuritis Anemia Increased inflammatory response Scarring Stridor Glomerulonephritis Hoarse voice Erythema Splenomegaly Alopecia Edema Peripheral neuropathy Anorexia Diplopia Memory impairment Vomiting Hyperreflexia Visual impairment Paralysis Proteinuria Choreoathetosis Stomatitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Diaphyseal sclerosis Alopecia areata Arterial thrombosis Recurrent aphthous stomatitis Hyperostosis frontalis interna Abnormal myocardium morphology Raynaud phenomenon Pustule Respiratory insufficiency Cardiomyopathy Arrhythmia Recurrent respiratory infections Proptosis Uveitis Anterior uveitis Hypogonadism Hypothyroidism Thickened calvaria Hypopyon Decreased level of D-mannose in urine Involuntary movements Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Spinal cord compression Strabismus Iridocyclitis Increased bone density with cystic changes Band keratopathy Hydronephrosis Abnormal platelet function Elevated calcitonin Posterior uveitis Cortical subperiosteal resorption of humeral metaphyses Abnormality of the skeletal system Osteoporosis Aseptic necrosis Skin rash Pulmonary embolism Recurrent corneal erosions Developmental regression Photophobia Reduced visual acuity Dilatation Tracheal stenosis Behavioral abnormality Blindness Chronic obstructive pulmonary disease Angina pectoris Concave nasal ridge Ataxia Abnormality of the nose Abnormality of the hypothalamus-pituitary axis Nasal obstruction Joint stiffness Inflammatory abnormality of the eye Prostatitis Periorbital edema Rhinorrhea Ocular pain Subglottic stenosis Recurrent intrapulmonary hemorrhage Granulomatosis Neuritis Scleritis Ureteral stenosis Abnormal oral cavity morphology Episcleritis Wheezing Abnormal pyramidal sign Arteritis Skin ulcer Keratoconjunctivitis sicca Blurred vision Epiphora Inflammation of the large intestine Hematuria Nephropathy Sensory neuropathy Acne Otitis media Epistaxis Rheumatoid arthritis Encephalitis Sinusitis Increased intracranial pressure Lymphadenopathy Purpura Aortic regurgitation Mitral regurgitation Hemiparesis Abnormal blistering of the skin Hemiplegia Migraine Vertigo Chronic otitis media Intestinal obstruction Diabetes insipidus Pulmonary fibrosis Petechiae Elevated erythrocyte sedimentation rate Elevated C-reactive protein level Delayed pubic bone ossification Ectopic calcification Limbal edema Nail dysplasia Tapered finger Abnormality of skin pigmentation Nail dystrophy Macrocephaly Hepatomegaly Abnormality of salivation Laryngeal edema Hyperpigmentation of the skin Abnormal epiglottis morphology Tongue edema Abnormality of the uvula Intestinal edema Pharyngeal edema Abnormal respiratory system morphology Abnormal soft palate morphology Lymphedema Abnormality of the fingernails Edema of the dorsum of hands Generalized hyperpigmentation Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Sparse body hair Abnormal intestine morphology Colon cancer Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypoalbuminemia Hypokalemia Cachexia Cryoglobulinemia Dermatographic urticaria Dystrophic fingernails Constipation Brain neoplasm Emotional lability Incoordination Hyperkinesis Muscle stiffness Urinary incontinence Difficulty walking Tremor Urinary hesitancy Spasticity Malabsorption of Vitamin B12 Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Thyroiditis Sensory impairment CNS demyelination Dysphagia Facial edema Upper airway obstruction Angioedema Inspiratory stridor Chronic lymphatic leukemia Ovarian cyst Abnormality of the larynx Multiple myeloma Lymphoproliferative disorder Axonal degeneration Abnormality of metabolism/homeostasis Urticaria Systemic lupus erythematosus Polycystic ovaries Hypotension Nausea Peripheral axonal neuropathy Leukemia Furrowed tongue Intestinal polyposis Tetany Sleep apnea Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Coxa vara Disproportionate short stature Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis Progressive sensorineural hearing impairment Hypoplasia of the odontoid process Limb undergrowth Dementia Hyperparathyroidism Dyskinesia Abnormality of the dentition Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Retinoschisis Vitreoretinopathy Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest High myopia Waddling gait Protein-losing enteropathy Scoliosis Congestive heart failure Talipes equinovarus Myopia Cleft palate Muscular hypotonia Hypertelorism Growth delay Generalized hypotonia Malar flattening Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Kyphosis Midface retrusion Limitation of joint mobility Platyspondyly Retinal detachment Pulmonary hypoplasia Flat face Retinal degeneration Micromelia Genu valgum Narrow chest Hip dislocation Hernia Broad forehead Pectus carinatum Respiratory tract infection Hyperlordosis Apnea Skeletal dysplasia Polydactyly Severe short stature Broad 1st metacarpal


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 Rheumatoid arthritis, related diseases and genetic alterations