Details of Disease

General Information of Disease (ID: DISXBAOL)

Disease Name Focal dermal hypoplasia
Synonyms DHOF; FDH; Fodh; Goltz Gorlin syndrome; focal dermal hypoplasia; focal dermal hypoplasia, X-linked dominant; Goltz-Gorlin syndrome; Goltz syndrome
Definition
A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DIS7GG31: Developmental defect during embryogenesis
DISXBAOL: Focal dermal hypoplasia
Disease Identifiers
MONDO ID
MONDO_0010592
MESH ID
D005489
UMLS CUI
C0016395
OMIM ID
305600
MedGen ID
42055
Orphanet ID
2092
SNOMED CT ID
205573006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PORCN TTNFBTO Definitive X-linked [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HCCS OTQE88BE Strong Genetic Variation [2]
PORCN OT79GAY2 Definitive X-linked [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.