Autoimmunity, and Delayed eruption of teeth

Diseases related with Autoimmunity and Delayed eruption of teeth

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


Top matches:

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 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 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

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Other less relevant matches:

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 BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

Low match X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY


IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE


Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Delayed eruption of teeth

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Abnormality of the dentition Depressivity Hyporeflexia Prolonged QT interval Anxiety Paresthesia Gingival overgrowth Muscle cramps Full cheeks Short metacarpal Hypoplasia of dental enamel Nystagmus Dyspnea Seizures Confusion Hypothyroidism Calcinosis Irritability Hearing impairment Sensorineural hearing impairment Depressed nasal bridge Basal ganglia calcification Short metatarsal Renal insufficiency Obesity Cerebral calcification Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Hyperphosphatemia Hypocalcemic tetany Myoclonic spasms Chest pain Round face Hypocalcemic seizures Pseudohypoparathyroidism Increased bone mineral density Laryngeal dystonia Hypocalcemia Autoimmune antibody positivity Elevated circulating parathyroid hormone level Conjunctivitis Growth hormone deficiency Osteoporosis Hypertrichosis Hirsutism

Rare Symptoms - Less than 30% cases


Diabetes mellitus Decreased body weight Short 3rd metacarpal Ectodermal dysplasia Recurrent infections Proteinuria Reduced bone mineral density Bulbous nose Coarse facial features Involuntary movements Kyphoscoliosis Hypertension Micrognathia Ectopic ossification Nephrotic syndrome Polyphagia Prolactin deficiency Short 5th metacarpal Constrictive median neuropathy Short 4th metacarpal Oligomenorrhea Generalized hirsutism Gait disturbance Osteoma cutis Hypergonadotropic hypogonadism Short fifth metatarsal Kyphosis Hypogonadism Broad distal phalanx of the thumb Choroid plexus calcification Gastroesophageal reflux EEG abnormality Bilateral sensorineural hearing impairment Ataxia Progressive sensorineural hearing impairment Ankylosis Failure to thrive Growth delay Abnormality of the renal tubule Carious teeth Focal segmental glomerulosclerosis Hypertelorism Generalized hypertrichosis Seborrheic dermatitis Neonatal hypoglycemia Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Dysesthesia Abnormality of peripheral nerve conduction Ileus Hemianopia Psychomotor deterioration Stroke-like episode Episodic vomiting Motor polyneuropathy Proximal tubulopathy Reduced consciousness/confusion Anterior hypopituitarism Transient ischemic attack Renal tubular dysfunction Facial diplegia Cardiorespiratory arrest Tubulointerstitial nephritis Delusions Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Posterior subcapsular cataract Vitiligo Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Cerebral ischemia Xerostomia Aortic dissection Gait imbalance Bifid scrotum Abnormality of visual evoked potentials Macular degeneration Glomerulopathy Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Thyroiditis Rhabdomyolysis Hyperthyroidism Vertebral fusion Bilateral ptosis Multiple lipomas Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Hemiplegia Hypercalciuria Mask-like facies Hypopigmented skin patches Hashimoto thyroiditis Atopic dermatitis Pancreatitis Drowsiness External ophthalmoplegia Reduced tendon reflexes Distal arthrogryposis Ragged-red muscle fibers Pulmonary embolism Ischemic stroke Mutism Decreased nerve conduction velocity Schizophrenia Primary adrenal insufficiency Goiter Hyperkinesis Easy fatigability Writer's cramp Growth abnormality Chronic kidney disease Atrioventricular block Abnormality of immune system physiology Cachexia Muscle fiber atrophy Stage 5 chronic kidney disease Persistence of primary teeth Increased number of teeth Lens coloboma Odontoma High-frequency sensorineural hearing impairment Pulp stones Macrodontia High-frequency hearing impairment Retinal coloboma Periodontitis Taurodontia Progressive hearing impairment Otitis media with effusion Abnormality of dental enamel Hypodontia Microcornea Iris coloboma Long face Coloboma Microphthalmia Long philtrum Anteverted nares Heavy proteinuria Agenesis of premolar Abnormality of the maxilla Elevated amniotic fluid alpha-fetoprotein Overgrowth Thoracic kyphoscoliosis Thick nasal alae Wide nasal base Gingival fibromatosis Peritonitis Deep philtrum Relative macrocephaly Widely spaced teeth Low anterior hairline Depressed nasal ridge Thick vermilion border Abnormality of canine Thick eyebrow Synophrys Wide mouth Macrotia Downslanted palpebral fissures Macrocephaly Epicanthus Abnormal facial shape Abnormality of the dental pulp Abnormality of molar morphology Podocyte foot process effacement Mesangial hypercellularity Leber optic atrophy Abnormal macular morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Hemeralopia Homonymous hemianopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Abnormal cochlea morphology Abnormality of acid-base homeostasis Congenital nephrotic syndrome Hyperlipidemia Steroid-resistant nephrotic syndrome Delayed eruption of permanent teeth Diffuse mesangial sclerosis Hypoproteinemia Tubular atrophy Neonatal respiratory distress Glomerulosclerosis Pyloric stenosis Hypoalbuminemia Hypercholesterolemia Abdominal distention Episodic quadriplegia Exercise intolerance Small for gestational age Scarring Respiratory tract infection Abnormality of the kidney Edema Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Purpura Delayed puberty Type I diabetes mellitus Strabismus Oligodontia Broad 1st metacarpal Hyperostosis frontalis interna Elevated calcitonin Abnormal platelet function Band keratopathy Spinal cord compression Thickened calvaria Choreoathetosis Abnormality of the skeletal system Lymphedema Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Ectopic calcification Tetany Hyperparathyroidism Dyskinesia Sclerotic cranial sutures Distal tapering of metatarsals Immunodeficiency Recurrent bacterial infections Peripheral opacification of the cornea Motor delay Fatigue Tremor Optic atrophy Skeletal muscle atrophy Fever Dysarthria Hyperreflexia Hepatomegaly Peripheral neuropathy Visual impairment Osteopetrosis Feeding difficulties Anemia Ptosis Pain Muscular hypotonia Muscle weakness Microcephaly Global developmental delay Hypohidrotic ectodermal dysplasia Conical tooth Thin metatarsal cortices Ankylosis of feet small joints Ventriculomegaly Small hand Abnormality of the thorax Metaphyseal widening Osteolysis Knee flexion contracture Thickened skin Subcutaneous nodule Split hand Interphalangeal joint contracture of finger Hypoplasia of the maxilla Corneal opacity Abnormality of the ear Arthritis Pes planus Arthralgia Osteopenia Proptosis Brachycephaly Pes cavus Frontal bossing Flexion contracture Hypermelanotic macule Abnormality of the thyroid gland Widened metacarpal shaft Contractures of the large joints Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Protrusio acetabuli Narrow nasal bridge Broad metatarsal Camptodactyly of toe Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankle contracture Hip contracture Arthropathy Dysphagia Respiratory insufficiency Hypogonadotrophic hypogonadism Nausea Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Nephropathy Polymicrogyria Lactic acidosis Increased serum lactate Peripheral axonal neuropathy Vertigo Ichthyosis Dysmetria Anal atresia Scoliosis Malabsorption Nausea and vomiting Congenital cataract Migraine Memory impairment Arthrogryposis multiplex congenita Hemiparesis EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Atrial fibrillation Hip dysplasia Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Amenorrhea Specific learning disability Ophthalmoplegia Lethargy Respiratory distress Encephalopathy Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Visual loss Cerebral atrophy Abdominal pain Headache Dystonia Hypertonia Congestive heart failure Diarrhea Vomiting Cerebellar atrophy Myopathy Blindness Cardiomyopathy Myoclonus Cerebral cortical atrophy Generalized tonic-clonic seizures Abnormality of the pinna Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Protruding ear Developmental regression Gait ataxia Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Myalgia Photophobia Jaundice Acidosis Autism Weight loss Congenital, generalized hypertrichosis



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