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Hyperhidrosis, premature cavities and premolar aplasia

MedGen UID:
99140
Concept ID:
C0457014
Disease or Syndrome
Synonyms: Book syndrome; Böök syndrome; PHC syndrome; Premolar aplasia, hyperhidrosis, and canities prematura
SNOMED CT: Book syndrome (722296002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007207
OMIM®: 112300
Orphanet: ORPHA1262

Definition

Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case. The syndrome has characteristics of premolar aplasia, hyperhidrosis, and premature greying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperhidrosis, premature cavities and premolar aplasia
Follow this link to review classifications for Hyperhidrosis, premature cavities and premolar aplasia in Orphanet.

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