Autoimmunity, and Intestinal malrotation

Diseases related with Autoimmunity and Intestinal malrotation

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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

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Other less relevant matches:

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 BLADDER EXSTROPHY


Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Low match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

Low match CONGENITAL SHORT BOWEL SYNDROME


Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Low match MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME


Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Related symptoms:

  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Hypoplasia of the corpus callosum
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Intestinal malrotation

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Omphalocele Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Sepsis Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Ventricular septal defect Intrauterine growth retardation Immunodeficiency Polyhydramnios Abdominal distention Vesicoureteral reflux Short stature Patent ductus arteriosus Malabsorption Inguinal hernia Bowel incontinence Global developmental delay Intestinal atresia Hydroureter Anemia Hypoplasia of the thymus Hashimoto thyroiditis Autoimmune hemolytic anemia Failure to thrive Growth delay

Rare Symptoms - Less than 30% cases


Hypothyroidism Gastroesophageal reflux Anxiety Abnormality of the clitoris Hypospadias Depressivity Feeding difficulties in infancy Abnormality of cardiovascular system morphology Intellectual disability, mild Abnormality of the dentition Atrial septal defect Wide nasal bridge Epicanthus Ptosis Obesity Anteriorly placed anus Asthma Horseshoe kidney Abnormality of the anus Bladder exstrophy Epispadias Recurrent urinary tract infections Hypoplasia of penis Biliary atresia Abnormality of the urinary system Hyperbilirubinemia Increased body weight Gastrointestinal hemorrhage Coarctation of aorta Hypoperistalsis Dilatation Cleft palate Patellar dislocation Cholelithiasis Purpura Aganglionic megacolon Anorectal anomaly Recurrent infections Muscular hypotonia Ectopic calcification Thickened skin Intellectual disability Hepatitis Jejunal atresia Microcolon Decreased antibody level in blood Duodenal atresia Type I diabetes mellitus Nail dystrophy Abnormality of the skeletal system Thyroiditis Sparse hair Severe combined immunodeficiency Hemolytic anemia Seizures Peritoneal abscess Bloody diarrhea Absent eyebrow Abnormal facial shape Strabismus Congenital cystic adenomatoid malformation of the lung Micrognathia Psoriasiform dermatitis Alopecia of scalp Abnormality of the ductus choledochus Gastrointestinal atresia Scoliosis Rectal abscess Hearing impairment Microcephaly Jejunoileal ulceration Premature thelarche Bronchomalacia Small face Broad philtrum Trichorrhexis nodosa Single ventricle Anterior plagiocephaly Recurrent ear infections Ureteropelvic junction obstruction Diaphragmatic eventration Crossed fused renal ectopia Common atrium Prominent fingertip pads Recurrent aspiration pneumonia Sclerosing cholangitis Abnormality of the middle ear Liver abscess Epibulbar dermoid Prominent eyelashes Vertebral clefting Eversion of lateral third of lower eyelids Overweight Cholangitis Failure to thrive in infancy Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Poor suck Celiac disease Abnormal dermatoglyphics Congenital hip dislocation Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Right bundle branch block Long palpebral fissure Optic nerve coloboma Scaphocephaly Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Vitiligo Pilonidal sinus Severe hearing impairment Anal stenosis Autoimmune thrombocytopenia IgA deficiency Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Short nasal septum Nausea and vomiting Vertical orbital dystopia Hypertension Hemivertebrae Pyloric stenosis Dextrocardia Malnutrition Steatorrhea Lipoatrophy Volvulus Gastroparesis Absent hand Displacement of the external urethral meatus Congenital shortened small intestine Intestinal hypoplasia Decreased intestinal transit time Abnormal peristalsis Hypoplasia of the corpus callosum Hepatic failure Edema Stroke Abnormality of the cerebral white matter Pulmonary arterial hypertension Abnormal lung morphology Tachypnea Dilatation of the cerebral artery Abnormality of the vasculature Colpocephaly Thoracic aortic aneurysm Mydriasis Periventricular white matter hyperdensities Cystic lung disease Retinal infarction Chronic diarrhea Hypotrichosis Nocturnal lagophthalmos Ketoacidosis Anoperineal fistula Congenital mitral stenosis Abnormality of the ureter Heterotopia Multicystic kidney dysplasia Abnormality of the gastrointestinal tract Megacystis Neoplasm of the heart Diabetes mellitus Ascites Hyperglycemia Tracheoesophageal fistula Iron deficiency anemia Severe intrauterine growth retardation Maternal diabetes Vomiting Single umbilical artery Cognitive impairment Bifid clitoris Cloacal exstrophy Exstrophy Macrothrombocytopenia Spinal dysraphism Unilateral renal agenesis Pancreatic hypoplasia Abnormality of pelvic girdle bone morphology Acholic stools Diabetic ketoacidosis Annular pancreas Absent gallbladder Meckel diverticulum Renal dysplasia Prominent nose Recurrent otitis media Small for gestational age Abnormal intestine morphology Lymphopenia Specific learning disability Tetralogy of Fallot Renal hypoplasia Choanal atresia Spina bifida Hypocalcemia Abnormality of dental enamel Hypopigmented skin patches Schizophrenia Laryngomalacia Nasal speech Polycystic kidney dysplasia Hand polydactyly Bulbous nose Posterior embryotoxon Multiple renal cysts Alopecia Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Foot polydactyly Abnormality of the thorax Hyperthyroidism Scarring Dysphasia Acne Chronic otitis media Overfolded helix Inflammation of the large intestine Long face Meningocele Behavioral abnormality Decreased proportion of CD8-positive T cells Thrombocytopenia Microphthalmia Malar flattening Long philtrum Splenomegaly Hydrocephalus Constipation Short neck Talipes equinovarus Downslanted palpebral fissures Optic atrophy Hypertelorism Low-set ears Duodenal stenosis Upslanted palpebral fissure Arachnodactyly Telecanthus Joint hyperflexibility Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Combined immunodeficiency Arthritis Glaucoma Myalgia Conductive hearing impairment Abnormality of abdomen morphology Hematochezia Narrow mouth Autism Abnormality of the skull Truncus arteriosus Small nail Joint laxity Protruding ear Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Abnormality of the kidney Intellectual disability, moderate Hydronephrosis Coloboma Hypoglycemia Jaundice Pes planus Macrotia Micropenis Posteriorly rotated ears Paralysis Abnormal cardiac septum morphology Pneumonia Cataract Blue sclerae Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Dental malocclusion Hypodontia Astigmatism Single transverse palmar crease Highly arched eyebrow Hirsutism Wide nose Polymicrogyria Joint hypermobility Severe short stature Abnormal heart morphology Abnormal eyelid morphology Abnormal thrombocyte morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Seborrheic dermatitis Retinal arteriolar tortuosity Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal pulmonary valve morphology Hypertensive crisis Visual loss Brachydactyly Clinodactyly Hernia Recurrent abscess formation Renal insufficiency Kyphosis Myopia Feeding difficulties Abnormal aortic arch morphology High palate Generalized hypotonia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Hyperperistalsis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Dental crowding, related diseases and genetic alterations

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