U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Search results

Items: 5

1.

Arthrogryposis, renal dysfunction, and cholestasis 1

Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401). [from OMIM]

MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
2.

Joubert syndrome 18

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]

MedGen UID:
766672
Concept ID:
C3553758
Disease or Syndrome
3.

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) is a rare autosomal recessive syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis (summary by Feldmeyer et al., 2006). [from OMIM]

MedGen UID:
334382
Concept ID:
C1843355
Disease or Syndrome
4.

Lambert syndrome

A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. [from SNOMEDCT_US]

MedGen UID:
343381
Concept ID:
C1855551
Disease or Syndrome
5.

Intrahepatic biliary atresia

Atresia in the intrahepatic bile duct. [from HPO]

MedGen UID:
343308
Concept ID:
C1855284
Disease or Syndrome; Finding

Supplemental Content

Find related data

Search details

See more...
External link. Please review our privacy policy.