Autoimmunity, and Joint hypermobility

Diseases related with Autoimmunity and Joint hypermobility

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


Top matches:

Low match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low 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

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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Other less relevant matches:

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

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 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 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 VESICOURETERAL REFLUX 8; VUR8


Related symptoms:

  • Joint hypermobility
  • Vesicoureteral reflux
  • Recurrent urinary tract infections
  • Duplicated collecting system


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 8; VUR8

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Joint hypermobility

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Global developmental delay Joint hyperflexibility Neoplasm Pain Hypertelorism Abnormality of the dentition Recurrent infections Hearing impairment Failure to thrive Hashimoto thyroiditis Generalized hypotonia Immunodeficiency Atrial septal defect Muscular hypotonia Hernia Inguinal hernia Intellectual disability, mild Hypothyroidism Umbilical hernia

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Mitral stenosis Scaphocephaly Thyroiditis Subcutaneous nodule Broad thumb Wide nose Lymphoma Macrocephaly Hypoglycemia Muscle weakness Macrotia Pectus excavatum Long philtrum Hyperthyroidism Myopathy Telangiectasia Frontal bossing Hamartoma Anorectal anomaly High palate Leukemia Abnormality of the kidney Intellectual disability, moderate Decreased antibody level in blood Narrow mouth Autism Kyphosis Diarrhea Hydrocephalus Downslanted palpebral fissures Myopia Brachydactyly Hemolytic anemia Cafe-au-lait spot Hand polydactyly Low-set ears Cataract Pneumonia Anemia Hamartomatous polyposis Hypopigmented skin patches Intestinal polyposis Arteriovenous malformation Meningioma Lipoma Multiple cafe-au-lait spots Multiple lipomas Cutis marmorata Intracranial hemorrhage Patellar dislocation Abnormality of the uterus Polymicrogyria Purpura Aortic aneurysm Tall stature Osteoarthritis Wide nasal bridge Blue sclerae Microdontia Epicanthus Arachnodactyly Carious teeth Joint laxity Cutis laxa Arthritis Pes planus Ptosis Cryptorchidism Cleft palate Abnormal facial shape Strabismus Microcephaly Intestinal malrotation Ventricular septal defect Anal atresia Vesicoureteral reflux Anxiety Depressivity Obesity Hypospadias Thrombocytopenia Patent ductus arteriosus Feeding difficulties Renal insufficiency Coarctation of aorta Mitral regurgitation Feeding difficulties in infancy Hoarse voice Hydronephrosis Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Long face Bulbous nose Postnatal growth retardation Growth delay Severe short stature Jaundice Abnormality of the skeletal system Short philtrum Micropenis Visual loss Conductive hearing impairment Abnormal heart morphology Myalgia Telecanthus Posteriorly rotated ears Abnormal aortic arch morphology Prominent nasal bridge Attention deficit hyperactivity disorder Clinodactyly Dysphasia Asthma Truncus arteriosus Hypoplasia of the thymus Tetany Corneal neovascularization Chronic obstructive pulmonary disease Atelectasis Overfolded helix Abnormality of the pinna Varicose veins Abnormal eyelid morphology Meningocele Abnormal thrombocyte morphology Abnormality of the skull Multiple renal cysts Chronic otitis media Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Acne Seborrheic dermatitis Abnormality of the thorax Gastrointestinal hemorrhage Abnormal pulmonary valve morphology Specific learning disability Hypertensive crisis Bowel incontinence Retinal arteriolar tortuosity Renal hypoplasia Choanal atresia Aganglionic megacolon Spina bifida Hypocalcemia Abnormality of dental enamel Abnormal aortic valve morphology Impaired T cell function Arrhinencephaly Platybasia Schizophrenia Small earlobe Laryngomalacia Nasal speech Polycystic kidney dysplasia Cholelithiasis Abnormality of the pharynx Tetralogy of Fallot Recurrent otitis media Respiratory tract infection Epibulbar dermoid Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Abnormality of the middle ear Vertical orbital dystopia Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Pilonidal sinus Nocturnal lagophthalmos Optic nerve coloboma Exostoses Prolonged partial thromboplastin time Abnormal bleeding Arthrogryposis multiplex congenita Schmorl's node Heberden's node Knee osteoarthritis Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Beaking of vertebral bodies Irregular vertebral endplates Anoperineal fistula Arthropathy Pathologic fracture Hip dysplasia Platyspondyly Joint stiffness Congestive heart failure Duplicated collecting system Recurrent urinary tract infections Abnormal erythrocyte morphology Leukopenia Congenital mitral stenosis Cholangitis Retinal coloboma Protruding ear Otitis media Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Long eyelashes Renal dysplasia Heterotopia Polyhydramnios Small nail Congenital diaphragmatic hernia Growth hormone deficiency Hyperbilirubinemia Dental malocclusion Prominent nose Hypodontia Single transverse palmar crease Highly arched eyebrow Hirsutism Astigmatism Malabsorption Abnormal cardiac septum morphology Coloboma Paralysis Horseshoe kidney Abnormal dermatoglyphics Short 5th finger Severe hearing impairment Depressed nasal tip Short columella Vitiligo Overweight Anal stenosis Autoimmune thrombocytopenia IgA deficiency Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Long palpebral fissure Abnormality of the urinary system Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Gastroesophageal reflux Colonic diverticula Glaucoma Subarachnoid hemorrhage Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Chronic pain Generalized joint laxity Periodontitis Gingivitis Soft skin Gingival bleeding Gingival recession Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Hypermelanotic macule Premature loss of permanent teeth Intestinal perforation Dermal atrophy Cachexia Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Delayed gross motor development Severe periodontitis Narrow palate Lymphedema Nevus Dolichocephaly Neurological speech impairment Delayed skeletal maturation Short nose Anteverted nares Alveolar bone loss around teeth Atrophy of alveolar ridges Urticaria Hyperextensible skin Abnormal large intestine morphology Aortic regurgitation Prematurely aged appearance Abnormal heart valve morphology Infantile spasms Emphysema Heart murmur Stridor Redundant skin Systemic lupus erythematosus Venous thrombosis Bronchiectasis Pulmonary artery stenosis Abnormality of the face Ventricular hypertrophy Full cheeks Pulmonic stenosis Skin rash Dyspnea Respiratory failure Respiratory distress Fatigue Aortic root aneurysm Heart block Osteolysis Osteoporosis Joint dislocation Vasculitis Gingival overgrowth Thin skin Fine hair Bruising susceptibility Scarring Erythema Arthralgia Edema Aortic dissection Flexion contracture Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Subglottic stenosis Upper airway obstruction Premature skin wrinkling Right ventricular hypertrophy Raynaud phenomenon Uterine neoplasm Neoplasm of the adrenal cortex Upslanted palpebral fissure Abnormality of the penis Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Subcutaneous lipoma Mucosal telangiectasiae Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Pseudopapilledema Acrokeratosis Bone cyst Intrauterine growth retardation Constipation Abnormality of cardiovascular system morphology Microphthalmia Malar flattening Splenomegaly Behavioral abnormality Short neck Talipes equinovarus Optic atrophy Lobular carcinoma in situ Transitional cell carcinoma of the bladder Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Cellular immunodeficiency Ovarian cyst Ataxia Abnormal cerebellum morphology Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Intention tremor Overgrowth Macroglossia Hypoplasia of the maxilla Hemangioma Palmoplantar keratoderma Nausea and vomiting Papule Carcinoma Proximal muscle weakness Headache Tremor Motor delay Delayed speech and language development Cognitive impairment Drooling Increased intracranial pressure Astrocytoma Ovarian neoplasm Furrowed tongue Hydrocele testis Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Renal cell carcinoma Hodgkin lymphoma Acute myeloid leukemia Melanoma Cellulitis Cystic hygroma Abnormality of the thyroid gland Macule Melanocytic nevus Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Graves disease



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