Autoimmunity, and Aganglionic megacolon

Diseases related with Autoimmunity and Aganglionic megacolon

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


Top matches:

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 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

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Other less relevant matches:

Low match THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC


Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1|fmtc

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

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 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11


Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 Is also known as arih|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ichthyosis with hypotrichosis, autosomal recessive|ifah

Related symptoms:

  • Flexion contracture
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

Low match HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3


The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).Hofstra et al. (1997) discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.

Related symptoms:

  • Aganglionic megacolon
  • Total colonic aganglionosis


SOURCES: OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3

Low match HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4


The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.

Related symptoms:

  • Aganglionic megacolon
  • Total colonic aganglionosis


SOURCES: OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4

Low match HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2


The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Intestinal malrotation
  • Aganglionic megacolon
  • Heterochromia iridis


SOURCES: OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2

Low match HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME


Related symptoms:

  • Seizures
  • Arrhythmia
  • Hyperhidrosis
  • Aganglionic megacolon
  • Abnormal autonomic nervous system physiology


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Aganglionic megacolon

Symptoms // Phenotype % cases
Intestinal malrotation Uncommon - Between 30% and 50% cases
Total colonic aganglionosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
Scarring Rare - less than 30% cases
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Other less frequent symptoms

Patients with Autoimmunity and Aganglionic megacolon. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Neoplasm Abnormality of the dentition Hypotrichosis Long philtrum Vomiting Malabsorption Hepatic failure Abdominal distention Constipation Hyperhidrosis Hypothyroidism Gastroesophageal reflux Fatigue Diarrhea Failure to thrive Hypertelorism Osteoporosis Short stature Weight loss Hearing impairment Confusion Orthostatic hypotension Carcinoma Hepatocellular carcinoma Xerostomia Respiratory distress Antinuclear antibody positivity Excessive daytime somnolence Allergy Conjugated hyperbilirubinemia Onychomycosis Cholangitis Biliary cirrhosis Gastrointestinal inflammation Cholestatic liver disease Pain Fat malabsorption Abnormality of the intrahepatic bile duct Hepatic encephalopathy Dermatographic urticaria Recurrent fungal infections Keratoconjunctivitis sicca Increased IgM level Increased IgA level Abnormality of lipid metabolism Cholestasis Osteomalacia Jaundice Polyuria Diabetes insipidus Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Nocturia Hypertonic dehydration Abnormality of the anterior pituitary Germinoma Hypertension Encephalopathy Abnormality of the liver Celiac disease Pruritus Cirrhosis Sleep disturbance Ascites Hepatitis Lymphoma Hyperpigmentation of the skin Hepatic fibrosis Hypoalbuminemia Elevated alkaline phosphatase Portal hypertension Abnormality of the thyroid gland Lymphadenopathy Teratoma Hoarse voice Pili torti Nail dystrophy Ichthyosis Palmoplantar keratoderma Hypohidrosis Sparse and thin eyebrow Brittle hair Ectropion Erythroderma Absent eyebrow Anhidrosis Congenital ichthyosiform erythroderma Sparse body hair Curly hair Blepharitis Congenital nonbullous ichthyosiform erythroderma Sparse hair Subungual hyperkeratosis Eclabion Orthokeratosis Generalized hypotrichosis Sensorineural hearing impairment Heterochromia iridis White forelock Arrhythmia Abnormal autonomic nervous system physiology Prolonged QT interval Neuroblastoma Abnormal pupil morphology Ganglioneuroma Neoplasm of the nervous system Corneal opacity Erythema Goiter Hemivertebrae Squamous cell carcinoma Amyloidosis Thyroiditis Neoplasm of the endocrine system Thyroid carcinoma Dehydration Papillary thyroid carcinoma Medullary thyroid carcinoma Follicular thyroid carcinoma Cutaneous amyloidosis Cognitive impairment Sepsis Chronic diarrhea Increased body weight Pyloric stenosis Photophobia Congenital shortened small intestine Hyperkeratosis Alopecia Flexion contracture Abnormal peristalsis Decreased intestinal transit time Intestinal hypoplasia Displacement of the external urethral meatus Dextrocardia Absent hand Gastroparesis Volvulus Lipoatrophy Steatorrhea Malnutrition Polydipsia Irritability Hypotension Attention deficit hyperactivity disorder Inguinal hernia Upslanted palpebral fissure Glaucoma Autism Narrow mouth Polyhydramnios Umbilical hernia Conductive hearing impairment Myalgia Arthritis Anxiety Telecanthus Feeding difficulties in infancy Short philtrum Hypospadias Prominent nasal bridge Carious teeth Joint hyperflexibility Anal atresia Arachnodactyly Long face Bulbous nose Asthma Vesicoureteral reflux Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Renal hypoplasia Choanal atresia Patent ductus arteriosus Depressivity Hypocalcemia Intrauterine growth retardation Global developmental delay Microcephaly Scoliosis Micrognathia Strabismus Abnormal facial shape Muscular hypotonia Cleft palate Cataract Cryptorchidism Ptosis Low-set ears Epicanthus Wide nasal bridge Optic atrophy Obesity Downslanted palpebral fissures Ventricular septal defect Talipes equinovarus Short neck Hydrocephalus Atrial septal defect Behavioral abnormality Intellectual disability, mild Splenomegaly Malar flattening Immunodeficiency Microphthalmia Abnormality of cardiovascular system morphology Thrombocytopenia Spina bifida Abnormality of dental enamel Growth hormone deficiency Tricuspid atresia Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Platybasia Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Abnormality of the tonsils Hypoplasia of the thymus Occipital myelomeningocele Growth delay Fever Short nose Abnormality of metabolism/homeostasis Diabetes mellitus Osteopenia Lethargy Dry skin Vertigo Wide nose Coma Gliosis Syncope Seborrheic dermatitis Tetany Purpura Foot polydactyly Hypopigmented skin patches Schizophrenia Laryngomalacia Nasal speech Polycystic kidney dysplasia Cholelithiasis Hand polydactyly Abnormality of the thorax Overfolded helix Chronic otitis media Acne Dysphasia Bowel incontinence Hyperthyroidism Posterior embryotoxon Corneal neovascularization Abnormal lung lobation Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Multiple renal cysts Abnormality of the skull Meningocele Truncus arteriosus Abnormal eyelid morphology Varicose veins Atelectasis Chronic obstructive pulmonary disease Abnormality of the uterus Ganglioneuroblastoma



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