Immunodeficiency, and Coarctation of aorta

Diseases related with Immunodeficiency and Coarctation of aorta

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

Top matches:

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

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

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Other less relevant matches:

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) 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 IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Coarctation of aorta

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Global developmental delay Hearing impairment Scoliosis Recurrent infections Pes planus Patent ductus arteriosus Abnormal heart morphology Growth delay Ptosis Abnormal facial shape Strabismus Micrognathia Generalized hypotonia Thin upper lip vermilion Failure to thrive Muscular hypotonia Cryptorchidism Iris coloboma Attention deficit hyperactivity disorder Epicanthus Abnormality of the dentition Wide nasal bridge Hypospadias Abnormality of the kidney Recurrent respiratory infections Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Respiratory tract infection Coloboma Highly arched eyebrow Single transverse palmar crease Decreased antibody level in blood Otitis media Abnormality of the pinna Clinodactyly of the 5th finger Inguinal hernia High palate Low-set ears Hypothyroidism Cleft palate Behavioral abnormality Narrow mouth Flexion contracture Retrognathia Hydronephrosis Fever Neoplasm

Rare Symptoms - Less than 30% cases

Pectus excavatum Constipation Joint hypermobility Hirsutism Agenesis of corpus callosum Abnormality of the middle ear Cataract Downslanted palpebral fissures Pyloric stenosis Syndactyly Frontal bossing Dental malocclusion Anal atresia Intestinal malrotation Respiratory distress Prominent nose Arteria lusoria Telecanthus Abnormal cardiac septum morphology Intrauterine growth retardation Hypoglycemia Prominent fingertip pads Clinodactyly Depressivity Hernia Joint laxity Delayed speech and language development Intellectual disability, mild Hydrocephalus Anemia Premature thelarche Brachydactyly Microphthalmia Feeding difficulties Abnormality of cardiovascular system morphology Thrombocytopenia Obesity Short neck Posteriorly rotated ears Sensorineural hearing impairment Growth hormone deficiency Hypertelorism Lymphadenopathy Hemolytic anemia Truncus arteriosus Renal dysplasia Overweight Low posterior hairline Horseshoe kidney Nasolacrimal duct obstruction Toe syndactyly High, narrow palate Polymicrogyria Exotropia Astigmatism Facial asymmetry Transposition of the great arteries Smooth philtrum Autoimmunity Blepharophimosis Craniosynostosis Premature birth Amblyopia Broad thumb Spina bifida Schizophrenia Leukemia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Long eyelashes Cafe-au-lait spot Bipolar affective disorder Bicuspid aortic valve Vitiligo Mitral stenosis Microdontia Purpura Patellar dislocation Deeply set eye Narrow chest Talipes Osteopenia Low-set, posteriorly rotated ears Dolichocephaly Camptodactyly Skin rash Hypogonadism Hip dislocation Neurological speech impairment Finger syndactyly Small for gestational age Prominent forehead Osteoporosis High forehead Self-mutilation Cerebral atrophy Plantar crease between first and second toes Long philtrum Broad distal phalanx of finger Keloids Duane anomaly Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Rhabdomyosarcoma Dyscalculia Abnormal cornea morphology Medulloblastoma Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Low hanging columella Hypoplastic iliac wing Chorioretinal dystrophy Duplication of phalanx of hallux Short nose Short attention span Congestive heart failure Anteverted nares Obstructive sleep apnea Ventriculomegaly Talipes equinovarus Optic atrophy Macrocephaly Capillary hemangioma Depressed nasal bridge Spasticity Radial deviation of thumb terminal phalanx Bruising susceptibility Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Tachycardia Hypoplastic left heart Microcornea Bilateral camptodactyly Camptodactyly of finger Hyperlordosis Malar flattening Recurrent bacterial skin infections Abnormality of immune system physiology Recurrent bacterial infections Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Internal hemorrhage Joint hyperflexibility Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Prominent nasal bridge Arachnodactyly Abnormality of the head Aortic aneurysm Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Ulnar deviation of finger Bowel incontinence Obsessive-compulsive behavior Language impairment Aortic regurgitation Long face Sandal gap Oculomotor apraxia Coxa valga Pointed chin Recurrent urinary tract infections Bowing of the long bones Choanal atresia Underdeveloped nasal alae Short distal phalanx of finger Short palm Long hallux Broad columella Postural instability Aortic valve stenosis Trigonocephaly Hand polydactyly Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Bone marrow hypocellularity Leukodystrophy Chorioretinal coloboma Short toe Sinusitis Short thumb Pachygyria Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Webbed neck Ectropion Heart murmur Abnormal thrombocyte morphology Diastasis recti Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Missing ribs Hammertoe Double outlet right ventricle Abnormal eyelash morphology Wheezing Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Shawl scrotum Aplasia/Hypoplasia of the eyebrow Flat occiput Poor coordination Crossed fused renal ectopia Neuroblastoma Accommodative esotropia Diarrhea Abnormality of the skeletal system Myopia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Esophoria Renal insufficiency Right aortic arch with mirror image branching Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Kyphosis Dilatation Right aortic arch Hypodontia Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Heterotopia Recurrent otitis media Small nail Blue sclerae Congenital diaphragmatic hernia Wide nose Visual loss Malabsorption Paralysis Protruding ear Anxiety Jaundice Macrotia Micropenis Severe short stature Pneumonia Impaired T cell function Alcoholism Hyperbilirubinemia Bulbous nose Primary amenorrhea Short palpebral fissure Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Chorea Bifid uvula Generalized tonic-clonic seizures Arnold-Chiari malformation Microtia Short philtrum Cleft lip Arthritis Umbilical hernia Hypertonia Hypoplasia of the corpus callosum Cognitive impairment Hypocalcemia Nasal speech Femoral hernia Tetany Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Myelomeningocele Cholelithiasis Sclerocornea Meningocele Hypoparathyroidism Posterior embryotoxon Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Congenital hip dislocation Abnormal dermatoglyphics Dislocated radial head Delayed skeletal maturation EEG abnormality Gastroesophageal reflux Polyhydramnios Proptosis Autism Polydactyly Glaucoma Hyperactivity Arrhythmia Unsteady gait Dysphagia Hyperreflexia Hypertension Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Pulmonic stenosis Thick eyebrow Eversion of lateral third of lower eyelids Spina bifida occulta Neurofibromas Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Narrow palate Recurrent fractures Low anterior hairline Wide anterior fontanel Stereotypy Dental crowding Hypoplasia of dental enamel Aganglionic megacolon Mitral regurgitation Convex nasal ridge Hypoplasia of the maxilla Short nasal septum Prominent eyelashes Abnormality of the urinary system Celiac disease Hashimoto thyroiditis Anal stenosis IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Severe hearing impairment Long palpebral fissure Right bundle branch block Short columella Bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Scaphocephaly Depressed nasal tip Liver abscess Bronchomalacia Sclerosing cholangitis Single ventricle Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Biliary atresia Diaphragmatic eventration Short 5th finger Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Retinal coloboma Branchial fistula


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