Autoimmunity, and Atrial septal defect

Diseases related with Autoimmunity and Atrial septal defect

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match ATRIAL SEPTAL DEFECT 8; ASD8


Related symptoms:

  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 8; ASD8

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Atrial septal defect

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short neck Hypothyroidism Global developmental delay Purpura Patent ductus arteriosus Recurrent infections Ventricular septal defect Delayed speech and language development Cognitive impairment Low-set ears Hypertelorism Thrombocytopenia Anemia Autoimmune hemolytic anemia Hypocalcemia Hemolytic anemia Hearing impairment Hydrocephalus Spina bifida Hypoparathyroidism Meningocele Truncus arteriosus Cleft palate Autoimmune thrombocytopenia Seborrheic dermatitis Inflammation of the large intestine High palate Impaired T cell function Cataract Microcephaly Bipolar affective disorder Behavioral abnormality Posterior embryotoxon Muscular hypotonia Nasal speech Tetralogy of Fallot Specific learning disability Bulbous nose Posteriorly rotated ears Graves disease Arthritis Schizophrenia Umbilical hernia Generalized hypotonia Inguinal hernia Acne Obesity Abnormality of cardiovascular system morphology Cholelithiasis Abnormal facial shape Downslanted palpebral fissures Ptosis Micrognathia Narrow mouth Abnormal heart morphology Failure to thrive Low posterior hairline Lymphopenia

Rare Symptoms - Less than 30% cases


Hashimoto thyroiditis Amenorrhea Attention deficit hyperactivity disorder Renal agenesis Short philtrum Renal dysplasia Vesicoureteral reflux Chorea Primary amenorrhea Telecanthus Abnormality of the kidney Bicuspid aortic valve Arnold-Chiari malformation Cryptorchidism Dysdiadochokinesis Psoriasiform dermatitis Talipes equinovarus Brachydactyly Epicanthus Macrocephaly Bifid uvula Abnormality of the uterus Chronic mucocutaneous candidiasis Hypospadias Exotropia Hypopigmented skin patches Lymphoma Ventricular hypertrophy Fever Hypoplasia of the corpus callosum Inflammatory abnormality of the skin Hand polydactyly Polymicrogyria Patent foramen ovale Depressivity Anal atresia Tetany Hyperthyroidism Retrognathia Conductive hearing impairment Hypoplasia of the thymus Anxiety Abnormality of the pinna Broad thumb Blepharophimosis Turricephaly Unilateral renal agenesis Rheumatoid arthritis Interrupted aortic arch Juvenile rheumatoid arthritis Neoplasm Delayed skeletal maturation Conotruncal defect Leukemia Thyroiditis Pulmonic stenosis Strabismus Abnormality of the endocrine system Aplasia of the uterus Retinal vascular tortuosity Perimembranous ventricular septal defect Platybasia Carcinoma Right aortic arch Sacral meningocele Myelomeningocele Dilatation Aplasia of the thymus Autism Right aortic arch with mirror image branching Arteria lusoria Intellectual disability, mild Vitiligo Microphthalmia Systemic lupus erythematosus Duodenal stenosis Polyhydramnios Diarrhea Parathyroid agenesis Type I truncus arteriosus Cafe-au-lait spot Parathyroid hypoplasia Sclerocornea Pain Drooling Ataxia Cranial nerve paralysis Neoplasm of the skin Esophoria Anterior segment developmental abnormality Vascular tortuosity Hemangioma Gynecomastia Muscle weakness Increased intracranial pressure Perisylvian polymicrogyria Chronic diarrhea Joint hypermobility Intellectual disability, moderate Pectus excavatum Headache Kyphosis Papule Decreased circulating parathyroid hormone level Myopathy Frontal bossing Tremor Nausea and vomiting Alcoholism Abnormality of the middle ear Palmoplantar keratoderma Telangiectasia Hypoplasia of the maxilla Abnormal cerebellum morphology Abnormality of the thymus Macroglossia Skeletal muscle atrophy Femoral hernia Decreased antibody level in blood Overgrowth Myopia Intention tremor Proximal muscle weakness Subcutaneous nodule Motor delay Accommodative esotropia Megalencephaly Melanoma Glaucoma Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Intestinal malrotation Asthma Long face Arachnodactyly Joint hyperflexibility Carious teeth Prominent nasal bridge Feeding difficulties in infancy Myalgia Gastroesophageal reflux Upslanted palpebral fissure Abnormality of dental enamel Constipation Malar flattening Long philtrum Splenomegaly Abnormality of the dentition Optic atrophy Intrauterine growth retardation Wide nasal bridge Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Aganglionic megacolon Laryngomalacia Trichilemmoma Corneal neovascularization Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Chronic obstructive pulmonary disease Polycystic kidney dysplasia Atelectasis Varicose veins Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Patellar dislocation Abnormal lung lobation Foot polydactyly Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Abnormality of the thorax Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Breast carcinoma Ovarian neoplasm Astrocytoma Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Hamartoma Intestinal polyposis 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 Incoordination Palmoplantar hyperkeratosis Goiter Ovarian cyst Bone cyst Cutis marmorata telangiectatica congenita 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 Cellular immunodeficiency 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 Amblyopia Hypoplasia of the brainstem Short palpebral fissure Renovascular hypertension Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Antiphospholipid antibody positivity Abnormal serum interferon-gamma level B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Villous atrophy Dilatation of the cerebral artery Pulmonary embolism Medial calcification of large arteries Depressed nasal bridge Recurrent upper respiratory tract infections Abnormality of the ribs Atrioventricular block Short long bone Lissencephaly Accelerated skeletal maturation Short ribs Short toe Rhizomelia Short phalanx of finger Pachygyria Limb undergrowth Respiratory insufficiency Short metacarpal Short palm Narrow chest Platyspondyly Apnea Respiratory failure Agenesis of corpus callosum Cerebellar hypoplasia Arrhythmia Encephalitis Leukoencephalopathy Redundant skin Pulmonary insufficiency Abnormality of the cardiovascular system Webbed neck Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Hyperkeratosis Edema Cardiomyopathy Recurrent fungal infections Lymphoproliferative disorder Hyperpigmentation of the skin Verrucae Recurrent viral infections B-cell lymphoma Right ventricular hypertrophy Increased antibody level in blood Combined immunodeficiency Recurrent bacterial infections Neutropenia Lymphadenopathy Left ventricular hypertrophy Relative macrocephaly Abnormal intestine morphology Diabetes mellitus Type I diabetes mellitus Bronchiectasis Pulmonary arterial hypertension Eczema Hepatitis Sepsis Delayed puberty Hepatosplenomegaly Osteopenia Recurrent respiratory infections Hyperextensible skin Pneumonia Congestive heart failure Growth delay Palmoplantar cutis laxa Chylothorax Acute lymphoblastic leukemia Curly hair Abnormality of the sternum Pleural effusion Poor suck Cone-shaped epiphysis Coarctation of aorta Obsessive-compulsive behavior Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Apathy Echolalia Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Psychosis Peripheral demyelination Underdeveloped nasal alae Pierre-Robin sequence Pulmonary artery atresia Congenital cataract Flexion contracture High, narrow palate Iris coloboma Astigmatism Generalized tonic-clonic seizures Microtia Craniosynostosis Cleft lip Hydronephrosis Hypertonia Unilateral primary pulmonary dysgenesis Mood swings Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Dysmetria Mental deterioration Metaphyseal irregularity Hyperphosphatemia Metaphyseal cupping Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Delayed epiphyseal ossification Coronal cleft vertebrae Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Metaphyseal dysplasia Disproportionate short stature Short finger Cortical gyral simplification Thoracic hypoplasia Abnormality of neuronal migration Porencephalic cyst Narrow greater sacrosciatic notches Aggressive behavior Widened sacrosciatic notch Hyperactivity Dementia Hernia Absent speech Cerebellar atrophy Intellectual disability, severe 11 thoracic vertebrae Horizontal inferior border of scapula Irregular tarsal bones Focal lissencephaly Third degree atrioventricular block Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Occipital myelomeningocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Platyspondyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more