Autoimmunity, and Omphalocele

Diseases related with Autoimmunity and Omphalocele

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


Top matches:

Medium 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

Medium 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 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

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Other less relevant matches:

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 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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 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 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 ISOLATED TRIGONOCEPHALY


Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Related symptoms:

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED TRIGONOCEPHALY

Top 5 symptoms//phenotypes associated to Autoimmunity and Omphalocele

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Intestinal malrotation Uncommon - Between 30% and 50% cases
Hernia 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 Omphalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vesicoureteral reflux Immunodeficiency Ventricular septal defect Abdominal distention Autoimmune hemolytic anemia Psoriasiform dermatitis Dilatation Polyhydramnios Recurrent infections

Rare Symptoms - Less than 30% cases


Abnormality of the clitoris Abnormality of the anus Duodenal stenosis Microcolon Abnormality of cardiovascular system morphology Generalized hypotonia Multicystic kidney dysplasia Hydroureter Bladder exstrophy Cryptorchidism Unilateral renal agenesis Pulmonic stenosis Joint hyperflexibility Inflammation of the large intestine Mitral regurgitation Hoarse voice Cutis laxa Cognitive impairment Intellectual disability Short stature Scoliosis Arthritis Tall stature Epispadias Intrauterine growth retardation Bowel incontinence Congenital cystic adenomatoid malformation of the lung Type I diabetes mellitus Thickened skin Hepatitis Alopecia of scalp Nail dystrophy Severe combined immunodeficiency Hypoplasia of the thymus Intestinal atresia Ectopic calcification Hashimoto thyroiditis Rectal abscess Jejunoileal ulceration Gastrointestinal atresia Bloody diarrhea Absent eyebrow Sparse hair Recurrent urinary tract infections Sepsis Hemolytic anemia Hypoplasia of penis Anemia Scarring Abnormality of the ductus choledochus Peritoneal abscess Retrognathia Hydrocephalus Atrial septal defect Intellectual disability, severe Cerebellar atrophy Blepharophimosis Behavioral abnormality Absent speech Thrombocytopenia Obesity Hypospadias Depressivity Patent ductus arteriosus Congenital cataract Abnormal heart morphology Dementia Aggressive behavior Mental deterioration Bifid uvula Posteriorly rotated ears Hyperactivity Bulbous nose Anxiety Hypothyroidism Dysmetria Conductive hearing impairment Abnormality of the pinna Abnormal facial shape Hypoplasia of the corpus callosum Single umbilical artery Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Nausea and vomiting Reduced intrathoracic adipose tissue Abnormality of the gastrointestinal tract Megacystis Hypoperistalsis Neoplasm of the heart Horseshoe kidney Underdeveloped nasal alae Abnormality of pelvic girdle bone morphology Abnormality of the urinary system Anteriorly placed anus Spinal dysraphism Short neck Abnormality of the ureter Fever Delayed speech and language development High palate Cataract Cleft palate Muscular hypotonia Microcephaly Macrothrombocytopenia Hearing impairment Global developmental delay Seizures Bifid clitoris Cloacal exstrophy Exstrophy Chorea Dysdiadochokinesis Renal agenesis Aplasia of the uterus Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Seborrheic dermatitis Retinal vascular tortuosity Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Paranoia Giant platelets Meningocele Right aortic arch with mirror image branching Prominent supraorbital ridges Hypotelorism Synophrys Wide nasal bridge Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Velopharyngeal insufficiency Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Delusions Hearing abnormality Specific learning disability Hallucinations Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Hypocalcemia Spina bifida Renal dysplasia Abnormality of the hand Open mouth Primary amenorrhea Low posterior hairline Psychosis Tetralogy of Fallot Peripheral demyelination Amenorrhea Schizophrenia Nasal speech Hypoparathyroidism Basal ganglia calcification Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Abnormality of the ear Cholelithiasis Myopathic facies Hypoplasia of the brainstem Acne Obsessive-compulsive behavior Apathy Rheumatoid arthritis Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Abnormality of the genital system Decreased serum leptin Subglottic stenosis Micrognathia Neoplasm Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Upper airway obstruction Flexion contracture Premature skin wrinkling Right ventricular hypertrophy Raynaud phenomenon Aortic dissection Heart block Pulmonary artery stenosis Aortic root aneurysm Pain Edema Abnormal heart valve morphology Bruising susceptibility Vasculitis Gingival overgrowth Thin skin Osteoarthritis Fine hair Blue sclerae Microdontia Joint hypermobility Abnormality of the dentition Arachnodactyly Carious teeth Erythema Joint laxity Pes planus Arthralgia Osteoporosis Prematurely aged appearance Infantile spasms Osteolysis Abnormal intestine morphology Decreased proportion of CD8-positive T cells Jejunal atresia Duodenal atresia Hematochezia Abnormality of abdomen morphology Thyroiditis Combined immunodeficiency Lymphopenia Feeding difficulties Decreased antibody level in blood Small for gestational age Alopecia Diarrhea Abnormality of the skeletal system Growth delay Recurrent abscess formation Hypertelorism Fatigue Emphysema Bronchiectasis Heart murmur Stridor Aortic aneurysm Redundant skin Systemic lupus erythematosus Venous thrombosis Aortic regurgitation Abnormality of the face Respiratory distress Ventricular hypertrophy Coarctation of aorta Full cheeks Skin rash Dyspnea Respiratory failure Renal insufficiency Joint dislocation Hyperextensible skin Congenital generalized lipodystrophy Hypertriglyceridemia Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Hypertrichosis Epidermal acanthosis Hyperinsulinemia Triangular face Nephropathy Hepatic steatosis Hirsutism Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Polycystic ovaries Lipodystrophy Macrotia Long foot Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Oligomenorrhea Clitoral hypertrophy Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Hepatosplenomegaly Mandibular prognathia Dermal atrophy Striae distensae Generalized joint laxity Periodontitis Gingivitis Soft skin Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Abnormal joint morphology Chronic pain Fragile skin Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Hypermelanotic macule Urticaria Mitral stenosis Premature loss of primary teeth Diabetes mellitus Hypertension Hyperhidrosis Splenomegaly Intellectual disability, mild Congestive heart failure Cardiomyopathy Hepatomegaly Peripheral neuropathy Alveolar bone loss around teeth Poor wound healing Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Trigonocephaly



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