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Items: 4

1.

Celiac disease, susceptibility to, 1

Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. [from GeneReviews]

MedGen UID:
395227
Concept ID:
C1859310
Finding
2.

Hypercholanemia, familial 1

Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24, and FCHA3 (619232), caused by mutation in the BAAT gene (602938) on chromosome 9q31. Other disorders that may have hypercholanemia as a feature include THNS (618268), caused by mutation in the CCDC47 gene (618260) on chromosome 17q23, and NEDFHCA (621016), caused by mutation in the WDR83OS gene (618474) on chromosome 19p13. [from OMIM]

MedGen UID:
1781366
Concept ID:
C5542604
Disease or Syndrome
3.

Autosomal dominant chondrodysplasia punctata

Autosomal dominant form of chondrodysplasia punctata. [from MONDO]

MedGen UID:
303176
Concept ID:
C1442935
Disease or Syndrome
4.

Decreased circulating vitamin K concentration

The concentration of vitamin K in the blood circulation is below the lower limit of normal. [from HPO]

MedGen UID:
1684852
Concept ID:
C5139061
Finding

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