PPD1
MCID: PLY136
MIFTS: 35

Polydactyly, Preaxial I (PPD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Polydactyly, Preaxial I

MalaCards integrated aliases for Polydactyly, Preaxial I:

Name: Polydactyly, Preaxial I 57 73 38
Ppd1 57 19 58 73
Polydactyly of a Biphalangeal Thumb 19 58 33
Thumb Polydactyly 57 19 5
Preaxial Polydactyly Type 1 19 58
Polydactyly, Preaxial 57 38
Polydactyly Preaxial Type 1 75
Polydactyly, Preaxial 1 73
Polydactyly Preaxial 1 19
Preaxial Polydactyly 1 19
Preaxial Polydactyly 28
Supernumerary Thumb 33
Accessory Thumb 33
Extra Thumb 33

Characteristics:


Inheritance:

Polydactyly, Preaxial I: Autosomal recessive 57
Polydactyly of a Biphalangeal Thumb: Autosomal dominant 58

Age Of Onset:

Polydactyly of a Biphalangeal Thumb: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 2 cousins from a consanguineous pakistani family (last curated april 2019)


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 174400
OMIM Phenotypic Series 57 PS174400
MeSH 43 D017689
ICD10 via Orphanet 32 Q69.1
UMLS via Orphanet 72 C1395852
Orphanet 58 ORPHA93339
SNOMED-CT via HPO 69 205135003 445216006
ICD11 33 555718563

Summaries for Polydactyly, Preaxial I

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...

Related Diseases for Polydactyly, Preaxial I

Diseases in the Polydactyly, Preaxial Ii family:

Polydactyly, Preaxial I Polydactyly, Preaxial Iii
Polydactyly, Preaxial Iv

Diseases related to Polydactyly, Preaxial I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 acropectoral syndrome 11.7
2 polydactyly, preaxial iv 11.5
3 polydactyly, preaxial ii 11.5
4 preaxial polydactyly-colobomata-intellectual disability syndrome 11.5
5 pfeiffer mayer syndrome 11.4
6 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 11.4
7 acromelic frontonasal dysostosis 11.4
8 polysyndactyly, crossed 11.4
9 ectodermal dysplasia alopecia preaxial polydactyly 11.4
10 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 11.3
11 polydactyly, preaxial iii 11.3
12 acrocallosal syndrome 11.3
13 carpenter syndrome 1 11.3
14 acropectorovertebral dysplasia 11.2
15 hemifacial microsomia with radial defects 11.2
16 orofaciodigital syndrome x 11.2
17 intellectual developmental disorder, x-linked, syndromic, siderius type 11.2
18 orofaciodigital syndrome 12 11.2
19 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.2
20 duane-radial ray syndrome 11.2
21 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 11.2
22 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 11.2
23 tibia, hypoplasia or aplasia of, with polydactyly 11.2
24 split-foot deformity with mandibulofacial dysostosis 11.1
25 biemond syndrome ii 11.1
26 ho kaufman mcalister syndrome 11.1
27 trisomy 2 mosaicism 11.1
28 syndromic x-linked intellectual disability siderius type 11.1
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
30 microcephaly 10.4
31 spinocerebellar ataxia 1 10.4
32 immunodeficiency 67 10.3
33 apert syndrome 10.2
34 cleft palate, isolated 10.2
35 tibial hemimelia 10.2
36 heart septal defect 10.2
37 dysostosis 10.2
38 craniosynostosis 10.2
39 hemimelia 10.2
40 fanconi anemia, complementation group a 10.2
41 deficiency anemia 10.2
42 femoral-facial syndrome 10.2
43 syndactyly, type iv 10.2
44 triphalangeal thumb with polysyndactyly 10.2
45 wolf-hirschhorn syndrome 10.2
46 charge syndrome 10.2
47 corpus callosum, agenesis of 10.2
48 pseudovaginal perineoscrotal hypospadias 10.2
49 spondylocostal dysostosis 1, autosomal recessive 10.2
50 wiedemann-steiner syndrome 10.2

Graphical network of the top 20 diseases related to Polydactyly, Preaxial I:



Diseases related to Polydactyly, Preaxial I

Symptoms & Phenotypes for Polydactyly, Preaxial I

Human phenotypes related to Polydactyly, Preaxial I:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preaxial hand polydactyly 30 HP:0001177
2 partial duplication of thumb phalanx 30 HP:0009944
3 radial deviation of thumb terminal phalanx 30 HP:0005895

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Hands:
bifid thumb
duplication of distal phalanx of thumbs

Clinical features from OMIM®:

174400 (Updated 08-Dec-2022)

Drugs & Therapeutics for Polydactyly, Preaxial I

Search Clinical Trials, NIH Clinical Center for Polydactyly, Preaxial I

Genetic Tests for Polydactyly, Preaxial I

Genetic tests related to Polydactyly, Preaxial I:

# Genetic test Affiliating Genes
1 Preaxial Polydactyly 28

Anatomical Context for Polydactyly, Preaxial I

Organs/tissues related to Polydactyly, Preaxial I:

MalaCards : Bone, Bone Marrow, Heart, Tongue, T Cells, Eye, Uterus

Publications for Polydactyly, Preaxial I

Articles related to Polydactyly, Preaxial I:

(show top 50) (show all 560)
# Title Authors PMID Year
1
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 57 5
30620395 2019
2
Thumb/hallux duplication and preaxial polydactyly type I. 62 57
10215544 1999
3
A pedigree with bilateral preaxial polydactyly from India. 62 57
3655751 1987
4
Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia. 62 57
3816011 1987
5
Hand and foot postaxial polydactyly: two different traits. 57
9375922 1997
6
Hereditary abductor--opponens agenesis. Report of a family with congenital muscle defects of the thenar eminence. 57
65459 1977
7
Polydactyly in the American Indian. 57
1155454 1975
8
On the inheritance and development of preaxial and postaxial types of polydactylism. 57
13394081 1957
9
Polydactylism of the hand in southern Chinese. 57
15405667 1950
10
Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls. 62
36125884 2023
11
Update of surgical treatment of polydactyly. 62
36412268 2022
12
KIF3B promotes a PI3K signaling gradient causing changes in a Shh protein gradient and suppressing polydactyly in mice. 62
36220081 2022
13
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. 62
36308343 2022
14
Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly. 62
36204982 2022
15
Mid-term to Long-term Follow-up Results of Reconstruction for Thumb Radial Polydactyly. 62
35818174 2022
16
PEAPOD repressors modulate and coordinate developmental responses to light intensity in Arabidopsis. 62
35510737 2022
17
A modified Bilhaut-Cloquet procedure for thumb duplication: Reconstruction of functionality and appearance. 62
35466076 2022
18
Genetic and transcriptomic dissection of an artificially induced paired spikelets mutant of wheat (Triticum aestivum L.). 62
35695919 2022
19
Earliest giant panda false thumb suggests conflicting demands for locomotion and feeding. 62
35773284 2022
20
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review. 62
35001526 2022
21
[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia]. 62
35446975 2022
22
Nail-based reconstruction strategies for Wassel-Flatt type IVh thumb polydactyly with a floating ulnar digit: A preliminary report with 63 thumbs. 62
34961698 2022
23
Improving Metacarpophalangeal Joint Instability by Joint Implantation in Parallel From a Supernumerary Thumb in Severely Hypoplastic Duplicated Thumbs. 62
34393195 2022
24
Surgical Results of Ulnar Component Excision and Radial Component Reconstruction in Patients With Preaxial Polydactyly of the Hand. 62
35354533 2022
25
Excision of Rudimentary Preaxial Polydactyly of the Hand with Use of Electrocautery. 62
35251551 2022
26
The association of immediate postpartum glucose values with persistent insulin resistance in patients with gestational diabetes. 62
34763121 2022
27
Congenital Disorders of the Pediatric Thumb. 62
35230999 2022
28
The management of mirror foot polydactyly: A case report. 62
35065400 2022
29
Tissue-specific requirement of sodium channel and clathrin linker 1 (Sclt1) for ciliogenesis during limb development. 62
36407107 2022
30
Epidemiological characteristics and distribution of congenital thumb duplication in south China: An analysis of 2,300 thumbs in 2,108 children. 62
36405832 2022
31
ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics. 62
35652055 2022
32
Preaxial Polydactyly in an Elderly Woman. 62
36092282 2022
33
Pedicle complex tissue flap transfer for reconstruction of duplicated thumbs with unequal size. 62
35047601 2021
34
HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly. 62
34928956 2021
35
Bone marrow-derived progenitor cells contribute to remodeling of the postpartum uterus. 62
34224633 2021
36
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans. 62
34759310 2021
37
Preoperative angulation as a predictor for operations of Wassel type IV polydactyly. 62
32956284 2021
38
[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly]. 62
34729753 2021
39
Treatment of Dangling-Type Thumb Polydactyly: Suture Ligation vs. Surgical Excision. 62
34380401 2021
40
Local administration of bicuculline into the ventrolateral and medial preoptic nuclei modifies sleep and maternal behavior in lactating rats. 62
34090866 2021
41
Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences. 62
33598896 2021
42
Overexpression of pEGF improved the gut protective function of Clostridium butyricum partly through STAT3 signal pathway. 62
34396488 2021
43
Extreme bilateral polydactyly in a wild-caught western grey kangaroo. 62
33034115 2021
44
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. 62
34202629 2021
45
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes. 62
32591344 2021
46
Efficacy of short-synthetic antifungal peptides on pathogenic Aspergillus flavus. 62
33838711 2021
47
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 62
33776626 2021
48
Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism. 62
33526528 2021
49
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons. 62
33680639 2021
50
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly. 62
33359164 2021

Variations for Polydactyly, Preaxial I

ClinVar genetic disease variations for Polydactyly, Preaxial I:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI1 NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) SNV Uncertain Significance
626906 rs753690500 GRCh37: 12:57863422-57863422
GRCh38: 12:57469639-57469639
2 GLI1 NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln) SNV Benign
1285295 GRCh37: 12:57865821-57865821
GRCh38: 12:57472038-57472038
3 GLI1 NM_005269.3(GLI1):c.576G>A (p.Glu192=) SNV Benign
1277191 GRCh37: 12:57859431-57859431
GRCh38: 12:57465648-57465648
4 GLI1 NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp) SNV Benign
1240928 GRCh37: 12:57865321-57865321
GRCh38: 12:57471538-57471538

Expression for Polydactyly, Preaxial I

Search GEO for disease gene expression data for Polydactyly, Preaxial I.

Pathways for Polydactyly, Preaxial I

GO Terms for Polydactyly, Preaxial I

Sources for Polydactyly, Preaxial I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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