Obesity, and Colitis

Diseases related with Obesity and Colitis

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


Top matches:

Medium match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Medium match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match ADENOCARCINOMA OF THE ESOPHAGUS


Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma|barrett metaplasia

Related symptoms:

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADENOCARCINOMA OF THE ESOPHAGUS

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Other less relevant matches:

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 PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1


Related symptoms:

  • Growth delay
  • Neoplasm
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match HYPERLIPOPROTEINEMIA, TYPE ID


Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

Low match IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2


Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Top 5 symptoms//phenotypes associated to Obesity and Colitis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Growth delay Cognitive impairment Global developmental delay Abnormality of the pinna Inflammation of the large intestine Weight loss Abdominal pain Immunodeficiency Fever Hearing impairment Microcephaly Micrognathia Arnold-Chiari malformation Nasal speech Strabismus Cleft palate Spina bifida Intrauterine growth retardation Ventricular septal defect Hydrocephalus Primary amenorrhea Abnormality of cardiovascular system morphology Amenorrhea Specific learning disability Anemia Patent ductus arteriosus Abnormal heart morphology Inguinal hernia Umbilical hernia Myelomeningocele Recurrent infections Truncus arteriosus Cholangitis Seizures Behavioral abnormality Delayed speech and language development High palate Psoriasiform dermatitis Bicuspid aortic valve Ptosis Diarrhea Pain Increased body weight

Rare Symptoms - Less than 30% cases


Thrombocytopenia Intellectual disability, severe Attention deficit hyperactivity disorder Narrow mouth Hypertelorism Autoimmune thrombocytopenia Posteriorly rotated ears Hypoplasia of the corpus callosum Hyperactivity Sacral meningocele Hypothyroidism Retrognathia Arthritis Blepharophimosis Atrial septal defect Polymicrogyria Short neck Autoimmunity Depressed nasal bridge Muscular hypotonia Prominent forehead Generalized hypotonia Gastrointestinal hemorrhage Abnormality of the middle ear Clitoral hypoplasia Ulcerative colitis Abnormality of the cardiovascular system Narrow nasal bridge Hepatomegaly Brittle hair Villous atrophy Right aortic arch with mirror image branching Arteria lusoria Bulbous nose Hypoparathyroidism Purpura Aplasia of the uterus Seborrheic dermatitis Schizophrenia Juvenile rheumatoid arthritis Meningocele Vitiligo Narrow palpebral fissure Cholelithiasis Rheumatoid arthritis Bipolar affective disorder Unilateral renal agenesis Acne Posterior embryotoxon Graves disease Hypocalcemia Autoimmune hemolytic anemia Retinal vascular tortuosity Bifid uvula Chorea Renal agenesis Aplasia of the thymus Psychotic episodes Conotruncal defect Duodenal stenosis Renal dysplasia Impaired T cell function Tetralogy of Fallot Psychosis Low posterior hairline Right aortic arch Perimembranous ventricular septal defect Interrupted aortic arch Multicystic kidney dysplasia Hemolytic anemia Hernia Nystagmus Hypoventilation Clinodactyly Anteverted ears Cleft lip Hydronephrosis Gastroesophageal reflux Vomiting Iris coloboma Microtia Cryptorchidism Low-set ears Dysphagia Myopathy Abnormality of the dentition Syndactyly Microphthalmia Cough Sparse hair Pruritus Failure to thrive in infancy Hypogonadism Sepsis Dental malocclusion Feeding difficulties Nausea and vomiting Intestinal obstruction Sleep disturbance Micropenis Hypopigmentation of the skin Full cheeks Esotropia Respiratory failure Upslanted palpebral fissure Diabetes mellitus Osteopenia Osteoporosis Growth hormone deficiency Recurrent respiratory infections Hyporeflexia Febrile seizures Dilatation Autism Short palm Tapered finger Leukemia Arachnodactyly Infertility Small hand Genu valgum Delayed puberty Carious teeth Hypermetropia Dolichocephaly Stroke Downturned corners of mouth Respiratory tract infection Apnea Short foot Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Photophobia Thin upper lip vermilion Postaxial hand polydactyly Edema Short nose Craniosynostosis Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Constipation Astigmatism Generalized tonic-clonic seizures Short philtrum Abnormality of the kidney Sclerocornea Telecanthus Prominent nasal bridge Hypertonia Flexion contracture Lethargy Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Thick eyebrow Congenital conductive hearing impairment Exotropia Tetany Kyphosis Type I truncus arteriosus Intellectual disability, mild Congestive heart failure Spasticity Ventriculomegaly Talipes equinovarus Myopia Epicanthus Hypertension Motor delay Parathyroid agenesis Anterior segment developmental abnormality Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Hip dysplasia Oligohydramnios Narrow forehead Chronic diarrhea Decreased serum iron Uncombable hair Pili canaliculi Intractable diarrhea Chronic hepatitis Bloody diarrhea Hypochromic microcytic anemia Trichorrhexis nodosa Ataxia Woolly hair Microcytic anemia Hepatitis Splenomegaly Wide nose Cirrhosis Small for gestational age Abnormality of the liver Wide nasal bridge Sensorineural hearing impairment Sclerosing cholangitis Crohn's disease Chronic infection Recurrent aphthous stomatitis Immune dysregulation Abnormality of the gastrointestinal tract Fatigue Hepatosplenomegaly Acromicria Encephalitis Chronic lymphocytic meningitis Viral hepatitis Cutaneous anergy Panhypogammaglobulinemia Protracted diarrhea Recurrent fungal infections Recurrent viral infections Chronic mucocutaneous candidiasis Agammaglobulinemia Recurrent lower respiratory tract infections Combined immunodeficiency Recurrent upper respiratory tract infections Hypertriglyceridemia Recurrent bacterial infections Recurrent urinary tract infections Decreased antibody level in blood Neutropenia Malabsorption Increased circulating chylomicron concentration Lipemia retinalis Eruptive xanthomas Acute pancreatitis Hyperlipoproteinemia Hyperlipidemia Pancreatitis Colon cancer Poor gross motor coordination Vascular ring Precocious puberty External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Poor suck Myeloid leukemia Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Spontaneous abortion Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Insulin resistance Clumsiness Cutaneous photosensitivity Type II diabetes mellitus Decreased fetal movement Polyphagia Impaired pain sensation Almond-shaped palpebral fissure Cor pulmonale Hypopnea Narrow palm Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Poor fine motor coordination Abdominal obesity Generalized hypopigmentation Striae distensae Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Perineal fistula Abnormal autonomic nervous system physiology Central nervous system degeneration Hypodontia Hypoplasia of teeth Labial hypoplasia Abnormality of the larynx Verrucae Delayed eruption of teeth Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Broad nasal tip Skin nodule Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Anomalous pulmonary venous return Bifid nose Aplasia cutis congenita Absent fingernail Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Foot oligodactyly Ureteral duplication Cleft upper lip Rough bone trabeculation Absent toenail Abnormality of skin pigmentation Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Facial cleft Hypoplastic nipples Abnormality of the pulmonary vasculature Hoarse voice Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Abnormality of dental enamel Abnormality of the skin Horseshoe kidney Congenital hip dislocation Pointed chin Abnormality of the nail Short ribs Overgrowth Recurrent skin infections Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Omphalocele Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Nail dysplasia Reduced number of teeth Anteriorly placed anus Supernumerary nipple Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Intestinal malrotation Vertebral fusion Ectodermal dysplasia Macule Mixed hearing impairment Short finger Hypermelanotic macule Open bite Dermal atrophy Mild short stature Anophthalmia Abnormality of dental morphology Stridor Chorioretinal coloboma Ectropion Ectopia lentis Hand polydactyly Short metacarpal Short metatarsal Nonproductive cough Abnormal adipose tissue morphology Abdominal distention Apathy Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Total colonic aganglionosis Hypoplasia of the brainstem Neoplasm of the thyroid gland Functional abnormality of the gastrointestinal tract Obsessive-compulsive behavior Intestinal perforation Anal stenosis Total intestinal aganglionosis Dysdiadochokinesis Abnormality of enteric ganglion morphology Abnormality of the hand Holoprosencephaly Brachydactyly Optic atrophy Hallucinations Abnormality of the skeletal system Open mouth Central hypoventilation Enterocolitis Peripheral demyelination Adducted thumb Sloping forehead Velopharyngeal insufficiency Giant platelets Aganglionic megacolon Paranoia Long eyelashes Low anterior hairline Congenital diaphragmatic hernia Mood swings Platybasia Flat occiput Intestinal polyposis Malnutrition Long nose Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Heterochromia iridis Neoplasm of the endocrine system Blindness Alopecia Bifid ureter Clinodactyly of the 5th toe Papule Nail dystrophy Cataract Hypotrichosis Toe syndactyly Abnormality of the foot Facial asymmetry Esophageal carcinoma Esophageal ulceration Barrett esophagus Esophagitis Corneal opacity Chest pain Lymphadenopathy Feeding difficulties in infancy Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Finger syndactyly Cerebellar atrophy Underdeveloped nasal alae Aggressive behavior Vesicoureteral reflux Agenesis of corpus callosum Hyperhidrosis Polydactyly Reduced visual acuity Dysmetria Anal atresia Pulmonic stenosis Congenital cataract Mental deterioration Anxiety Camptodactyly of finger Joint laxity Conductive hearing impairment Camptodactyly Erythema Dementia Depressivity Hypospadias Scarring Absent speech Coloboma Abnormal cardiac septum morphology Recurrent protozoan infections



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