Autoimmunity, and Pes planus

Diseases related with Autoimmunity and Pes planus

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


Top matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Medium 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

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

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Other less relevant matches:

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match HAIM-MUNK SYNDROME


Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

HAIM-MUNK SYNDROME Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|cochin jewish disorder|keratosis palmoplantaris with p

Related symptoms:

  • Hyperkeratosis
  • Pes planus
  • Arachnodactyly
  • Palmoplantar keratoderma
  • Palmoplantar hyperkeratosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAIM-MUNK SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B


Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B Is also known as charcot-marie-tooth disease, autosomal dominant, type 2b|charcot-marie-tooth neuropathy, type 2b|cmt2b|hmsn iib|hmsn2b|hereditary motor and sensory neuropathy iib

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B

Low match HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Low match EHLERS-DANLOS SYNDROME TYPE 2


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Autoimmunity and Pes planus

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Joint laxity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Pain Flexion contracture Abnormality of the dentition Kyphosis Depressivity Hernia Arthralgia Diabetes mellitus Hirsutism Micrognathia Hypothyroidism Scarring Brachydactyly Intellectual disability Generalized joint laxity Clinodactyly Strabismus

Rare Symptoms - Less than 30% cases


Hyporeflexia Soft skin Periodontitis Pes cavus Jaundice Abnormality of the kidney Intellectual disability, moderate Mitral stenosis Postnatal growth retardation Hyperkeratosis Recurrent urinary tract infections Cataract Cigarette-paper scars Hypertelorism Kyphoscoliosis Severe periodontitis Overweight Autoimmune thrombocytopenia Hypertension Hearing impairment Growth delay Failure to thrive Feeding difficulties Myopia Nystagmus Sensorineural hearing impairment Visual impairment Peripheral neuropathy Pneumonia Renal insufficiency Obesity Thickened skin Gastroesophageal reflux Patent ductus arteriosus Interphalangeal joint contracture of finger Visual loss Behavioral abnormality Respiratory tract infection Gingivitis Otitis media Increased body weight Osteoporosis Gingival overgrowth Umbilical hernia Arthritis Growth hormone deficiency Thin skin Vasculitis Precocious puberty Subcutaneous nodule Blue sclerae Microdontia Bruising susceptibility Joint hypermobility Carious teeth Inguinal hernia Recurrent infections Joint hyperflexibility Agenesis of permanent teeth Fever Edema Hydroureter Congenital diaphragmatic hernia Atrophic scars Hypermelanotic macule Immunodeficiency Dermal atrophy Hyperextensible skin Recurrent otitis media Osteolysis Arachnodactyly Glomerulopathy Glycosuria Bronchitis Poor coordination Oligospermia Progressive sensorineural hearing impairment Short finger Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Pulmonary fibrosis Male hypogonadism Emphysema Polyuria Polyphagia Acute hepatic failure Hyperuricemia Hypoventilation Oligomenorrhea Posterior subcapsular cataract Alopecia of scalp Diabetes insipidus Broad foot Ketoacidosis Peripheral visual field loss Pendular nystagmus Retinal atrophy Insulin-resistant diabetes mellitus Tubulointerstitial nephritis Increased number of teeth Attenuation of retinal blood vessels Severe sensorineural hearing impairment Right ventricular hypertrophy Elevated serum creatinine Thoracic scoliosis Pericarditis Subcapsular cataract Hyperventilation Recurrent bronchitis Tubular atrophy Myocarditis Glucose intolerance Nephrocalcinosis Hyperglycemia Hypertriglyceridemia Hepatitis Optic disc pallor Cardiomegaly Type II diabetes mellitus Epidermal acanthosis Pulmonary arterial hypertension Involuntary movements Cyanosis Left ventricular hypertrophy Chronic diarrhea Anorexia Abnormality of retinal pigmentation Insulin resistance Decreased liver function Pigmentary retinopathy Specific learning disability Hyperpigmentation of the skin Sleep disturbance Cirrhosis Tachycardia Hepatic failure Retinal dystrophy Hepatic steatosis Nephropathy Ascites Progressive visual loss Abdominal distention Asthma Vesicoureteral reflux Urinary incontinence Round face Gastrointestinal hemorrhage Decreased testicular size Hepatic fibrosis Sinusitis Hyperostosis Polydipsia Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Hyperinsulinemia Lipodystrophy Portal hypertension Nephritis Goiter Chronic otitis media Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Acne Polycystic ovaries Cone/cone-rod dystrophy Gynecomastia Chronic fatigue Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Generalized hirsutism Hypogonadotrophic hypogonadism Absence seizures Tachypnea Accelerated skeletal maturation Macular degeneration Acanthosis nigricans Atherosclerosis Hyperlipidemia Pancreatitis Hypercholesterolemia Myocardial fibrosis Frontal balding Chronic obstructive pulmonary disease Thick nail Reduced tendon reflexes Foot dorsiflexor weakness Sensory impairment Sensory neuropathy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Distal muscle weakness Areflexia Cerebellar atrophy Skeletal muscle atrophy Congenital palmoplantar keratosis Tapering pointed ends of distal finger phalanges Recurrent bacterial skin infections Osteolytic defects of the phalanges of the hand Steppage gait Palmoplantar hyperkeratosis Palmoplantar keratoderma Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Hammertoe Decreased motor nerve conduction velocity Thickened ears Limited elbow extension Femoral hernia Bladder diverticulum Peritonitis Varicose veins Aortic dissection Aortic aneurysm Retinal detachment Pectus carinatum Pectus excavatum Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Emotional lability Sensory axonal neuropathy Adducted thumb High myopia Skin rash Camptodactyly of finger Aggressive behavior Autoamputation of foot Foot osteomyelitis Peripheral axonal atrophy Foot pain Axonal degeneration/regeneration Absent Achilles reflex Dystrophic toenail Decreased number of peripheral myelinated nerve fibers Axonal degeneration Dilatation of the bladder Granular macular appearance Esophageal varix Urinary retention Hematemesis Stage 5 chronic kidney disease Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Arteriosclerosis First degree atrioventricular block Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Melena Abnormality of the optic disc Receptive language delay Abnormality of the pituitary gland Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Urethral obstruction Decreased glomerular filtration rate Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Nausea Vomiting Lymphadenopathy Interphalangeal joint erosions Ptosis Cryptorchidism Cleft palate Muscular hypotonia Abnormal facial shape Microcephaly Generalized hypotonia Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Osteolysis involving tarsal bones High palate Thin metacarpal cortices Carpal osteolysis 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 Anemia Epicanthus Generalized osteoporosis Feeding difficulties in infancy Single transverse palmar crease Highly arched eyebrow Hemolytic anemia Wide nose Polymicrogyria Astigmatism Anal atresia Malabsorption Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Abnormality of the pinna Anxiety Wide nasal bridge Hydronephrosis Hypoglycemia Macrotia Micropenis Posteriorly rotated ears Severe short stature Abnormal heart morphology Hypospadias Intellectual disability, mild Diarrhea Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Delayed closure of the anterior fontanelle Vertebral compression fractures Intestinal malrotation Tall stature Chronic pain Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Urticaria Cutis laxa Joint dislocation Hoarse voice Mitral regurgitation Poor wound healing Osteoarthritis Fine hair Erythema Neoplasm Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Thrombocytopenia Premature loss of primary teeth Palmoplantar cutis laxa Antinuclear antibody positivity Hypoplasia of the maxilla Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Abnormality of the thorax Metaphyseal widening Knee flexion contracture Decreased body weight Split hand Hypertrichosis Delayed eruption of teeth Premature loss of permanent teeth Small hand Bulbous nose Corneal opacity Coarse facial features Osteopenia Proptosis Brachycephaly Frontal bossing Gait disturbance Alveolar bone loss around teeth Atrophy of alveolar ridges Intestinal perforation Gingival recession Hypodontia Prominent nose Retinal degeneration Respiratory insufficiency Myoclonus Rod-cone dystrophy Recurrent respiratory infections Alopecia Constipation Encephalopathy Splenomegaly Dystonia Congestive heart failure Blindness Cardiomyopathy Respiratory distress Short neck Fatigue Hypogonadism Optic atrophy Hepatomegaly Motor delay Delayed speech and language development Cognitive impairment Ataxia Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Hyperhidrosis Abdominal pain Prominent eyelashes Abnormality of the liver Dry skin Infertility Delayed puberty Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Sparse hair Autistic behavior Polydactyly Pallor Irritability Proteinuria Myalgia Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Photophobia Hepatosplenomegaly Dyspnea Autism Weight loss Respiratory failure Premature thelarche Liver abscess Dental malocclusion Abnormality of the urinary system Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Brittle hair Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Congenital hypothyroidism Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Small nail Coarctation of aorta Decreased antibody level in blood Autoimmune hemolytic anemia Thyroiditis Sclerosing cholangitis Recurrent ear infections Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Anterior plagiocephaly IgA deficiency Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Hashimoto thyroiditis Anal stenosis Abnormal oral cavity morphology



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