Abnormality of the skeletal system, and Malabsorption

Diseases related with Abnormality of the skeletal system and Malabsorption

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Malabsorption that can help you solving undiagnosed cases.


Top matches:

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).For additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}.

CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 Is also known as gluten-sensitive enteropathy, susceptibility to, 4

Related symptoms:

  • Malabsorption
  • Abnormal intestine morphology
  • Celiac disease


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).For additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}.

CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 Is also known as gluten-sensitive enteropathy, susceptibility to, 3

Related symptoms:

  • Malabsorption
  • Abnormal intestine morphology
  • Celiac disease


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3

Low match DIARRHEA 9; DIAR9


Diarrhea-9 is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption (O'Connell et al., 2018).For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Malabsorption
  • Chronic diarrhea
  • Villous atrophy


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 9; DIAR9

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Other less relevant matches:

Low match INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY


Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.

INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY Is also known as meconium ileus due to guanylate cyclase 2c deficiency

Related symptoms:

  • Diarrhea
  • Sepsis
  • Chronic diarrhea
  • Intestinal obstruction
  • Malnutrition


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY

Low match ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS


ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS Is also known as dann-epstein-sohar syndrome

Related symptoms:

  • Abnormality of the dentition
  • Hyperhidrosis
  • Malabsorption
  • Ectodermal dysplasia
  • Anhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS

Low match BILE ACID MALABSORPTION, PRIMARY; PBAM


Primary bile acid malabsorption is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Malabsorption
  • Chronic diarrhea


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID MALABSORPTION, PRIMARY; PBAM

Low match LACTOSE INTOLERANCE, ADULT TYPE


In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).

LACTOSE INTOLERANCE, ADULT TYPE Is also known as adult lactase deficiency|disaccharide intolerance iii|hypolactasia, adult type

Related symptoms:

  • Pain
  • Diarrhea
  • Abnormality of metabolism/homeostasis
  • Osteoporosis
  • Abdominal pain


SOURCES: OMIM MENDELIAN

More info about LACTOSE INTOLERANCE, ADULT TYPE

Low match MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8 Is also known as diabetes and pancreatic exocrine dysfunction|dped|diabetes-pancreatic exocrine dysfunction syndrome

Related symptoms:

  • Pain
  • Diabetes mellitus
  • Abdominal pain
  • Malabsorption
  • Maturity-onset diabetes of the young


SOURCES: MESH OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8

Low match TREHALASE DEFICIENCY


This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.

TREHALASE DEFICIENCY Is also known as trehalose intolerance|isolated trehalose intolerance

Related symptoms:

  • Neoplasm
  • Pain
  • Vomiting
  • Diarrhea
  • Abdominal pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TREHALASE DEFICIENCY

Low match PANCREATIC AGENESIS 2; PAGEN2


PANCREATIC AGENESIS 2; PAGEN2 Is also known as pancreatic hypoplasia, congenital 2

Related symptoms:

  • Global developmental delay
  • Diabetes mellitus
  • Small for gestational age
  • Hepatic failure
  • Type I diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about PANCREATIC AGENESIS 2; PAGEN2

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Malabsorption

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Celiac disease Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Steatorrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Malabsorption. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain

Rare Symptoms - Less than 30% cases


Abnormal intestine morphology Failure to thrive Villous atrophy Fat malabsorption Diabetes mellitus Malnutrition Decreased small intestinal mucosa lactase activity Lactose intolerance Abnormality of exocrine pancreas physiology Maturity-onset diabetes of the young Global developmental delay Neoplasm Vomiting Irritability Abdominal distention Peptic ulcer Small for gestational age Hepatic failure Type I diabetes mellitus Gastritis Growth delay Osteoporosis Abnormality of metabolism/homeostasis Exocrine pancreatic insufficiency Generalized anhidrosis Heat intolerance Xerostomia Anhidrosis Ectodermal dysplasia Hyperhidrosis Abnormality of the dentition Meconium ileus Microcolon Ileus Intestinal obstruction Sepsis Pancreatic hypoplasia



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