Details of Disease

General Information of Disease (ID: DISX46OZ)

Disease Name Polydactyly of a biphalangeal thumb
Synonyms
polydactyly, preaxial I; Fromont anomaly; polydactyly preaxial 1; polydactyly, preaxial 1; preaxial polydactyly 1; thumb polydactyly; thenar hypoplasia; PPD1; preaxial polydactyly type 1; polydactyly, preaxial type 1
Definition
Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISXO6C9: Preaxial polydactyly of fingers
DISX46OZ: Polydactyly of a biphalangeal thumb
Disease Identifiers
MONDO ID
MONDO_0008269
MESH ID
C536332
UMLS CUI
C1395852
OMIM ID
174400
MedGen ID
237235
HPO ID
HP:0001177
Orphanet ID
93339

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GLI1 TTJOMH6 Supportive Autosomal dominant [1]
GLI1 TTJOMH6 Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLI1 OT1BTAJO Supportive Autosomal dominant [1]
GLI3 OTKDOE94 moderate Genetic Variation [2]
SALL4 OTC08PR5 Strong Biomarker [3]
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References

1 A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. Clin Genet. 2019 Apr;95(4):540-541. doi: 10.1111/cge.13495. Epub 2019 Jan 8.
2 Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.Clin Genet. 2005 May;67(5):429-33. doi: 10.1111/j.1399-0004.2005.00431.x.
3 Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology.Ann Plast Surg. 2013 Jan;70(1):116-8. doi: 10.1097/SAP.0b013e31822f9960.