Autoimmunity, and Polydactyly

Diseases related with Autoimmunity and Polydactyly

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


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


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

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match SYNPOLYDACTYLY TYPE 2


SYNPOLYDACTYLY TYPE 2 Is also known as spd2|spd, debeer type|sd2, debeer type|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|sd2b|synpolydactyly, debeer type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 2

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 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Polydactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Immunodeficiency Systemic lupus erythematosus Autism Short neck Failure to thrive Kyphosis Seizures Hypertelorism Hypothyroidism Pain

Rare Symptoms - Less than 30% cases


Micrognathia Atrial septal defect Vesicoureteral reflux Recurrent infections Dilatation Acne Intellectual disability, mild Diarrhea Gastrointestinal hemorrhage Hydrocephalus Leukemia Ataxia Cholelithiasis Specific learning disability Downslanted palpebral fissures Motor delay Thrombocytopenia Cognitive impairment Low-set ears Chronic otitis media Carious teeth Narrow mouth Goiter Hashimoto thyroiditis Thyroiditis Hyperthyroidism Strabismus Optic atrophy Ovarian cyst Hand polydactyly Abnormality of the dentition Behavioral abnormality Splenomegaly Hypopigmented skin patches Asthma Obesity Depressivity Patent ductus arteriosus Gynecomastia Constipation Chronic diarrhea Gastroesophageal reflux Conductive hearing impairment Progressive sensorineural hearing impairment Abnormality of the uterus Abnormality of the kidney Myalgia Delayed speech and language development Retinal degeneration Talipes equinovarus Respiratory distress Chronic obstructive pulmonary disease Myopia Congestive heart failure Malar flattening Growth delay Nystagmus Generalized hypotonia Hypertension Cleft palate Sensorineural hearing impairment Glaucoma Muscle weakness Arthritis Respiratory tract infection Muscular hypotonia Abnormality of retinal pigmentation Anorexia Dystonia Insulin resistance Cough Left ventricular hypertrophy Thickened skin Hepatic fibrosis Recurrent urinary tract infections Renal insufficiency Involuntary movements Encephalopathy Recurrent otitis media Clinodactyly Hypertriglyceridemia Pulmonary arterial hypertension Visual loss Epidermal acanthosis Decreased liver function Hypergonadotropic hypogonadism Hyperpigmentation of the skin Pancreatitis Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Abnormality of the hand Polycystic ovaries Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Sinusitis Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Short toe Hyporeflexia Cardiomegaly Type II diabetes mellitus Nausea Photophobia Deeply set eye Elevated hepatic transaminase Proteinuria Retinal dystrophy Irritability Postnatal growth retardation Pallor Hirsutism Hepatic failure Tachycardia Autistic behavior Cirrhosis Stage 5 chronic kidney disease Aplasia/Hypoplasia of the cerebellum Abnormality of the liver Lymphadenopathy Dry skin Sparse hair Scarring Infertility Delayed puberty Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Retinopathy Hepatic steatosis Jaundice Nyctalopia Myoclonus Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Alopecia Progressive visual loss Decreased testicular size Otitis media Pneumonia Growth hormone deficiency Round face Recurrent respiratory infections Rod-cone dystrophy Hyperhidrosis Nephropathy Hypogonadism Diabetes mellitus Urinary incontinence Abdominal pain Respiratory failure Hyperkeratosis Weight loss Dyspnea Kyphoscoliosis Pes planus Abdominal distention Hepatosplenomegaly Ascites Sleep disturbance Obsessive-compulsive behavior Autoimmune thrombocytopenia Constriction of peripheral visual field Abnormal spermatogenesis Urethral obstruction 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 Decreased glomerular filtration rate Hypoplastic male external genitalia Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Abnormality of the pituitary gland Hepatic necrosis Pyelonephritis Glue ear Recurrent mycobacterial infections Recurrent Neisserial infections C8 deficiency Meningitis 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 Unilateral breast hypoplasia Chronic hepatic failure Exudative retinopathy Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Nonproductive cough Dilatation of the bladder Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Chills Poor fine motor coordination Impaired vibratory sensation Glomerulopathy Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Blindness Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Agenesis of permanent teeth Poor coordination Pulmonary fibrosis Hyperostosis Hyperglycemia Diabetes insipidus Glucose intolerance Polyuria Emphysema Hydroureter Short finger Urinary urgency Truncal obesity Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Hyperventilation Oligomenorrhea Urinary retention Esophageal varix Arteriosclerosis 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 High-frequency hearing impairment Restrictive cardiomyopathy Chronic fatigue Posterior subcapsular cataract Right ventricular hypertrophy Broad foot Ketoacidosis Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Elevated serum creatinine Myocardial fibrosis Acute hepatic failure Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Vomiting Patellar dislocation Cardiomyopathy Macroglossia Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Cafe-au-lait spot Exotropia Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Abnormal cerebellum morphology Increased intracranial pressure Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Nausea and vomiting Papule Intellectual disability, moderate Carcinoma Proximal muscle weakness Pectus excavatum Headache Myopathy Frontal bossing Hemangioma Melanoma Macrocephaly Ovarian neoplasm Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Hamartoma Breast carcinoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Tremor Skeletal muscle atrophy Intestinal polyposis Paresthesia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Micromelia Coxa vara Genu valgum Narrow chest Platyspondyly Hip dislocation Broad forehead Pectus carinatum Hyperlordosis Apnea Skeletal dysplasia Severe short stature Hernia Midface retrusion Gait disturbance Rhizomelia Sleep apnea Brachydactyly Cervical myelopathy High palate Neoplasm Abnormal erythrocyte morphology Leukopenia Hemolytic anemia Anemia Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Flattened epiphysis Growth abnormality Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Astrocytoma Bone cyst Respiratory insufficiency Dysphasia Varicose veins Abnormal eyelid morphology Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Bowel incontinence Overfolded helix Corneal neovascularization Abnormality of the thorax Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Purpura Abnormality of dental enamel Hypocalcemia Spina bifida Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Atelectasis Tetany Bulbous nose Tricuspid atresia Fatigue Hepatomegaly Peripheral neuropathy Visual impairment Feeding difficulties Metatarsal synostosis Metacarpal synostosis Carpal synostosis Tarsal synostosis Toe syndactyly Syndactyly Occipital myelomeningocele Abnormality of the tonsils Multiple suture craniosynostosis Hypoplasia of the thymus Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Seborrheic dermatitis Intestinal malrotation Long face Cellular immunodeficiency Ovarian carcinoma Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Enlarged cerebellum Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cutis marmorata telangiectatica congenita Trichilemmoma Arachnodactyly Abnormality of cardiovascular system morphology Anal atresia Joint hyperflexibility Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Feeding difficulties in infancy Telecanthus Anxiety Umbilical hernia Polyhydramnios Upslanted palpebral fissure Inguinal hernia Hypospadias Microphthalmia Dysplastic gangliocytoma of the cerebellum Long philtrum Ventricular septal defect Intrauterine growth retardation Wide nasal bridge Epicanthus Ptosis Cryptorchidism Abnormal facial shape Microcephaly Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Angioedema



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