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PPD1
MCID: PLY136
MIFTS: 35
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Polydactyly, Preaxial I (PPD1)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Polydactyly, Preaxial I:
Characteristics:Inheritance:
Polydactyly, Preaxial I:
Autosomal recessive 57
Polydactyly of a Biphalangeal Thumb:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 2 cousins from a consanguineous pakistani family (last curated april 2019) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Skin diseases
ICD10:
32
ICD11:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM®: 57 Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations (Handforth, 1950). (174400) (Updated 08-Dec-2022) MalaCards based summary: Polydactyly, Preaxial I, also known as ppd1, is related to acropectoral syndrome and polydactyly, preaxial iv. An important gene associated with Polydactyly, Preaxial I is GLI1 (GLI Family Zinc Finger 1). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are preaxial hand polydactyly and partial duplication of thumb phalanx GARD: 19 Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), 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. Orphanet: 58 Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), 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. UniProtKB/Swiss-Prot: 73 A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. Wikipedia: 75 Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), also... more... |
Human phenotypes related to Polydactyly, Preaxial I:30
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Genetic tests related to Polydactyly, Preaxial I:
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Organs/tissues related to Polydactyly, Preaxial I:
MalaCards :
Bone,
Bone Marrow,
Heart,
Tongue,
T Cells,
Eye,
Uterus
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Articles related to Polydactyly, Preaxial I:(show top 50) (show all 560)
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ClinVar genetic disease variations for Polydactyly, Preaxial I:5
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