Autoimmunity, and Proptosis

Diseases related with Autoimmunity and Proptosis

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


Top matches:

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

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 SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

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Other less relevant matches:

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

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

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 CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

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 GRANULOMATOSIS WITH POLYANGIITIS


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 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Proptosis

Symptoms // Phenotype % cases
Weight loss Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormality of metabolism/homeostasis Short nose Hypothyroidism Fever Elevated erythrocyte sedimentation rate Fatigue Abnormal facial shape Diabetes mellitus Hepatomegaly Splenomegaly Thyrotoxicosis with diffuse goiter Graves disease Goiter Vomiting Micrognathia Tachycardia Frontal bossing Hyperthyroidism

Rare Symptoms - Less than 30% cases


Subcutaneous nodule Papule Neoplasm Anemia Diabetes insipidus Skin rash Recurrent respiratory infections Dry skin Tremor Scoliosis Visual impairment Skin ulcer Dehydration Respiratory insufficiency Peripheral neuropathy Vertigo Renal insufficiency Pleural effusion Cataract Seizures Concave nasal ridge Periorbital edema Osteoporosis Osteopenia Pulmonary infiltrates Petechiae Arthralgia Cranial nerve paralysis Headache Purpura Vasculitis Arthritis Epistaxis Gastrointestinal hemorrhage Hirsutism Constipation Stroke Visual loss Recurrent infections Paralysis Motor delay Malabsorption Autoimmune antibody positivity Prominent forehead Malar flattening Obesity Asthma Hepatitis Abnormal lung morphology Downslanted palpebral fissures Depressed nasal bridge Ptosis Low-set ears Delayed speech and language development Activating thyroid-stimulating hormone receptor defect Chronic lung disease Thyroid hyperplasia Systemic lupus erythematosus Hand tremor Hyperhidrosis Hyperactivity Nausea and vomiting Convex nasal ridge Sleep disturbance Hypertension Agitation Abnormality of the fingernails Recurrent pneumonia White forelock Deep philtrum Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Generalized hirsutism Hypoplasia of the radius Laryngomalacia Reduced bone mineral density Psoriasiform dermatitis Abnormality of the metacarpal bones Osteomyelitis Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Abnormality of the immune system Congenital hip dislocation Increased antibody level in blood Aplasia/Hypoplasia of the skin Abnormality of the hip bone Hemivertebrae Narrow palate Synostosis of carpal bones Radioulnar synostosis Congenital hypothyroidism Hepatosplenomegaly High forehead Hyperkeratosis Abnormality of digit Thrombocytopenia Intellectual disability, mild Oligodactyly Erythema High palate Synostosis of joints Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Elevated hepatic transaminase Absent thumb Elbow dislocation Depressed nasal ridge Bilateral single transverse palmar creases Ectropion Low anterior hairline Lymphedema Abnormality of retinal pigmentation Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Pruritus Low posterior hairline Hypoplasia of the ulna Palmoplantar keratoderma Mixed hearing impairment Arachnodactyly Genu valgum Carious teeth Intellectual disability, severe Chest pain Abnormality of the middle ear Granulomatosis Scleritis Increased inflammatory response Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Endocarditis Neuritis Pleuritis Prostatitis Subglottic stenosis Ocular pain Rhinorrhea Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Recurrent intrapulmonary hemorrhage Growth delay Angina pectoris Polyuria Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Enuresis Orthostatic hypotension Polydipsia Long philtrum Hypotension Growth hormone deficiency Syncope Gliosis Coma Wide nose Confusion Lethargy Irritability Cerebral ischemia Chronic obstructive pulmonary disease Poliosis Dyspnea Nephropathy Hematuria Paresthesia Cough Retinopathy Proteinuria Hydronephrosis Myalgia Abdominal pain Abnormality of the genital system Arrhythmia Cardiomyopathy Respiratory distress Pain Sensorineural hearing impairment Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Sensory neuropathy Otitis media Tracheal stenosis Stridor Myositis Gangrene Hemoptysis Wheezing Pericarditis Glomerulopathy Restrictive ventilatory defect Pulmonary fibrosis Intestinal obstruction Chronic otitis media Myocardial infarction Glomerulonephritis Hemiplegia Venous thrombosis Pancreatitis Conjunctivitis Meningitis Hoarse voice Sinusitis Diplopia Short thumb C1-C2 subluxation Abnormal form of the vertebral bodies Shortened PR interval Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Increased intramyocellular lipid droplets Impaired myocardial contractility Decreased urinary potassium Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Heat intolerance Hypomagnesemia Hashimoto thyroiditis Episodic hypokalemia Transient hypophosphatemia Rhabdomyolysis Memory impairment Hypercoagulability Edema of the lower limbs Raynaud phenomenon Gingival bleeding Cutis marmorata Urticaria Anorexia Migraine Thyrotoxicosis with toxic single thyroid nodule Lymphoma Polyneuropathy Lymphadenopathy Leukemia Pallor Congestive heart failure Ataxia Thyrotoxicosis with toxic multinodular goitre Thyroiditis Prolonged QT interval Abnormality of the retinal vasculature Pretibial myxedema Camptodactyly Respiratory failure Posteriorly rotated ears Clinodactyly Macrocephaly Failure to thrive Generalized hypotonia Eyelid retraction Chronic diarrhea Abnormal eye morphology Tachypnea Accelerated skeletal maturation Premature birth Small for gestational age Hyperemesis gravidarum Spontaneous abortion Nausea Dolichocephaly Type I diabetes mellitus Mildly elevated creatine phosphokinase Tetraplegia Hyperkalemia Ventricular fibrillation Myotonia Ophthalmoparesis Hypokalemia EMG abnormality Muscle stiffness Palpitations Muscle cramps Short chin Lower limb muscle weakness Hyporeflexia Hyperreflexia Muscle weakness Interstitial pneumonitis Prominent occiput Relative macrocephaly Abnormal intestine morphology Lymphoproliferative disorder Reduced consciousness/confusion Renal hypoplasia Metacarpal osteolysis Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Severe generalized osteoporosis Thin metatarsal cortices Finger swelling Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Peripheral opacification of the cornea Distal tapering of metatarsals Vertebral compression fractures Hip dislocation Abnormality of the ribs Renal agenesis Hypodontia High, narrow palate Micromelia Toe syndactyly Congenital cataract Finger syndactyly Sclerotic cranial sutures Prominent nasal bridge Short philtrum Protruding ear Deeply set eye Retrognathia Syndactyly Cleft palate Nystagmus Generalized osteoporosis Antinuclear antibody positivity Normocytic anemia Brachydactyly Pes planus Coarse facial features Kyphoscoliosis Brachycephaly Pes cavus Kyphosis Gait disturbance Flexion contracture Bulbous nose Short stature Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Corneal opacity Small hand Ankylosis Metaphyseal widening Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Osteolysis Delayed eruption of teeth Knee flexion contracture Gingival overgrowth Thickened skin Decreased body weight Split hand Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of the maxilla Germinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Bulbous nose, related diseases and genetic alterations

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