PPD2
MCID: PLY148
MIFTS: 46

Polydactyly, Preaxial Ii (PPD2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Polydactyly, Preaxial Ii

MalaCards integrated aliases for Polydactyly, Preaxial Ii:

Name: Polydactyly, Preaxial Ii 57 29 6 70
Triphalangeal Thumb-Polysyndactyly Syndrome 57 20 58 72 36
Ppd2 57 20 58 72
Polydactyly, Preaxial Type Ii 57 29 13
Triphalangeal Thumb Polysyndactyly Syndrome 29 6
Polydactyly of a Triphalangeal Thumb 20 58
Triphalangeal Thumb, Type I 57 29
Preaxial Polydactyly Type 2 20 58
Triphalangeal Thumb-Polydactyly Syndrome 57
Polydactyly of Triphalangeal Thumb 57
Polydactyly, Preaxial, Type Ii 39
Preaxial Polydactyly 2 72
Tpt-Ps Syndrome 58
Tptps 72

Characteristics:

Orphanet epidemiological data:

58
triphalangeal thumb-polysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
polydactyly of a triphalangeal thumb
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
polydactyly, preaxial ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 174500
OMIM Phenotypic Series 57 PS174400
KEGG 36 H00855
MESH via Orphanet 45 C536563
ICD10 via Orphanet 33 Q69.1 Q74.8
UMLS via Orphanet 71 C1868114 C1969369
UMLS 70 C1868114

Summaries for Polydactyly, Preaxial Ii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93336 Definition Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).

MalaCards based summary : Polydactyly, Preaxial Ii, also known as triphalangeal thumb-polysyndactyly syndrome, is related to split-foot deformity with mandibulofacial dysostosis and chromosome 2q35 duplication syndrome. An important gene associated with Polydactyly, Preaxial Ii is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Translation Non-genomic (rapid) action of Androgen Receptor. Affiliated tissues include heart, and related phenotypes are preaxial hand polydactyly and opposable triphalangeal thumb

KEGG : 36 Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects such as triphalangeal thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development.

UniProtKB/Swiss-Prot : 72 Preaxial polydactyly 2: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal.
Triphalangeal thumb-polysyndactyly syndrome: Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development.

More information from OMIM: 174500 PS174400

Related Diseases for Polydactyly, Preaxial Ii

Diseases in the Polydactyly, Preaxial Ii family:

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

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 split-foot deformity with mandibulofacial dysostosis 31.2 ZRS PTCH1 LMBR1
2 chromosome 2q35 duplication syndrome 30.4 SHH PTCH1 LMBR1
3 synostosis 30.2 SHH LMBR1
4 syndactyly, type iv 30.2 ZRS SHH LMBR1
5 tibia, hypoplasia or aplasia of, with polydactyly 29.9 ZRS SHH LMBR1
6 coloboma of macula 29.6 SHH PTCH1
7 polydactyly 29.2 ZRS SHH PTCH1 LMBR1
8 polydactyly, preaxial i 11.3
9 polydactyly, preaxial iii 10.4
10 heart disease 10.4
11 tetralogy of fallot 10.3
12 tibial hemimelia 10.3
13 fryns microphthalmia syndrome 10.3
14 microphthalmia 10.3
15 double outlet right ventricle 10.3
16 hemimelia 10.3
17 radial hemimelia 10.0 SHH LMBR1
18 acheiropody 10.0 SHH LMBR1
19 mesomelia 10.0 ZRS LMBR1
20 bone development disease 9.9 SHH LMBR1
21 chromosomal duplication syndrome 9.9 SHH LMBR1
22 melanotic medulloblastoma 9.9 SHH PTCH1
23 nodular medulloblastoma 9.9 SHH PTCH1
24 midline interhemispheric variant of holoprosencephaly 9.9 SHH PTCH1
25 septopreoptic holoprosencephaly 9.9 SHH PTCH1
26 holoprosencephaly 9 9.8 SHH PTCH1
27 cerebellum cancer 9.8 SHH PTCH1
28 adult medulloblastoma 9.8 SHH PTCH1
29 cerebellar medulloblastoma 9.8 SHH PTCH1
30 alobar holoprosencephaly 9.8 SHH PTCH1
31 lobar holoprosencephaly 9.8 SHH PTCH1
32 keratocystic odontogenic tumor 9.8 SHH PTCH1
33 skin tag 9.8 PTCH1 LMBR1
34 holoprosencephaly 11 9.8 SHH PTCH1
35 holoprosencephaly 5 9.8 SHH PTCH1
36 microform holoprosencephaly 9.8 SHH PTCH1
37 holoprosencephaly 7 9.8 SHH PTCH1
38 solitary median maxillary central incisor 9.8 SHH PTCH1
39 semilobar holoprosencephaly 9.8 SHH PTCH1
40 focal dermal hypoplasia 9.8 SHH PTCH1
41 pallister-hall syndrome 9.8 SHH PTCH1
42 brachydactyly, type a1 9.8 SHH PTCH1
43 tumoral calcinosis, hyperphosphatemic, familial, 1 9.8 SHH PTCH1
44 skeletal muscle cancer 9.8 SHH PTCH1
45 colobomatous microphthalmia 9.8 SHH PTCH1
46 infratentorial cancer 9.8 SHH PTCH1
47 congenital nervous system abnormality 9.7 SHH PTCH1
48 basal cell nevus syndrome 9.7 SHH PTCH1
49 holoprosencephaly 3 9.7 ZRS SHH LMBR1
50 laurin-sandrow syndrome 9.7 ZRS SHH LMBR1

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



Diseases related to Polydactyly, Preaxial Ii

Symptoms & Phenotypes for Polydactyly, Preaxial Ii

Human phenotypes related to Polydactyly, Preaxial Ii:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 31 hallmark (90%) HP:0001177
2 opposable triphalangeal thumb 31 hallmark (90%) HP:0005866
3 postaxial hand polydactyly 31 frequent (33%) HP:0001162
4 postaxial foot polydactyly 31 frequent (33%) HP:0001830
5 preaxial foot polydactyly 31 frequent (33%) HP:0001841
6 syndactyly 31 frequent (33%) HP:0001159
7 duplication of phalanx of hallux 31 frequent (33%) HP:0010066
8 complete duplication of distal phalanx of the thumb 31 HP:0009606

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
preaxial polydactyly
duplication of distal thumb phalanx
opposable triphalangeal thumbs
duplication of great toes

Clinical features from OMIM®:

174500 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Polydactyly, Preaxial Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.62 PTCH1 SHH

Drugs & Therapeutics for Polydactyly, Preaxial Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study for Development of Microneedles for Diagnosis of Latent Tuberculosis Infection Not yet recruiting NCT04552015

Search NIH Clinical Center for Polydactyly, Preaxial Ii

Genetic Tests for Polydactyly, Preaxial Ii

Genetic tests related to Polydactyly, Preaxial Ii:

# Genetic test Affiliating Genes
1 Polydactyly, Preaxial Ii 29 LMBR1
2 Triphalangeal Thumb Polysyndactyly Syndrome 29
3 Polydactyly, Preaxial Type Ii 29
4 Triphalangeal Thumb, Type I 29

Anatomical Context for Polydactyly, Preaxial Ii

MalaCards organs/tissues related to Polydactyly, Preaxial Ii:

40
Heart

Publications for Polydactyly, Preaxial Ii

Articles related to Polydactyly, Preaxial Ii:

(show all 34)
# Title Authors PMID Year
1
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. 6 57 61
18417549 2008
2
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. 6 57 61
18178630 2008
3
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 61 6 57
17300748 2007
4
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. 57 6
24777739 2014
5
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. 57 6
20569257 2011
6
Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. 6 57
19519794 2009
7
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. 6 57
18463159 2008
8
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. 57 6
17152067 2007
9
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. 57 6
12837695 2003
10
Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36. 57 6
10937618 2000
11
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. 57 6
8012392 1994
12
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. 61 57
19847792 2010
13
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. 57 61
10869115 2000
14
Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. 57 61
10594878 1999
15
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. 57
10329000 1999
16
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. 57
9950363 1999
17
Linkage of preaxial polydactyly type 2 to 7q36. 57
8533803 1995
18
Phenotypic analysis of triphalangeal thumb and associated hand malformations. 57
8071973 1994
19
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. 57
8012391 1994
20
Polydactyly: a study of a five generation Indian family. 57
8487274 1993
21
A pedigree with bilateral preaxial polydactyly from India. 57
3655751 1987
22
Familial opposable triphalangeal thumbs associated with duplication of the big toes. 57
3981586 1985
23
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report. 61
33218365 2020
24
Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. 61
32662247 2020
25
Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China. 61
32184803 2020
26
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. 61
29543231 2018
27
Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease. 61
28035386 2017
28
An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family. 61
27922091 2016
29
Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome. 61
24535850 2014
30
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. 61
23793141 2013
31
[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0]. 61
19504452 2009
32
Werner mesomelic dysplasia with Hirschsprung disease. 61
14598345 2003
33
Laurin-Sandrow syndrome with additional associated manifestations. 61
11169557 2001
34
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36. 61
8958333 1996

Variations for Polydactyly, Preaxial Ii

ClinVar genetic disease variations for Polydactyly, Preaxial Ii:

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4618C>G SNV Pathogenic 4897 rs606231146 GRCh37: 7:156584465-156584465
GRCh38: 7:156791771-156791771
2 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4818A>T SNV Pathogenic 4899 rs606231148 GRCh37: 7:156584265-156584265
GRCh38: 7:156791571-156791571
3 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4842T>C SNV Pathogenic 4900 rs606231149 GRCh37: 7:156584241-156584241
GRCh38: 7:156791547-156791547
4 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4842T>C SNV Pathogenic 4900 rs606231149 GRCh37: 7:156584241-156584241
GRCh38: 7:156791547-156791547
5 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+5252A>G SNV Pathogenic 4902 rs606231150 GRCh37: 7:156583831-156583831
GRCh38: 7:156791137-156791137
6 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+5252A>G SNV Pathogenic 4902 rs606231150 GRCh37: 7:156583831-156583831
GRCh38: 7:156791137-156791137
7 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+5134C>G SNV Pathogenic 4903 rs606231151 GRCh37: 7:156583949-156583949
GRCh38: 7:156791255-156791255
8 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+5134C>G SNV Pathogenic 4903 rs606231151 GRCh37: 7:156583949-156583949
GRCh38: 7:156791255-156791255
9 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4808T>C SNV Pathogenic 4906 rs606231152 GRCh37: 7:156584275-156584275
GRCh38: 7:156791581-156791581
10 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4808T>C SNV Pathogenic 4906 rs606231152 GRCh37: 7:156584275-156584275
GRCh38: 7:156791581-156791581
11 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4909C>T SNV Pathogenic 4907 rs606231153 GRCh37: 7:156584174-156584174
GRCh38: 7:156791480-156791480
12 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4810G>A SNV Pathogenic 30496 rs606231230 GRCh37: 7:156584273-156584273
GRCh38: 7:156791579-156791579
13 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4847T>G SNV Pathogenic 30497 rs606231231 GRCh37: 7:156584236-156584236
GRCh38: 7:156791542-156791542
14 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4915C>T SNV Pathogenic 126371 rs587779752 GRCh37: 7:156584168-156584168
GRCh38: 7:156791474-156791474
15 ZRS , LMBR1 NM_022458.4(LMBR1):c.423+4915C>T SNV Pathogenic 126371 rs587779752 GRCh37: 7:156584168-156584168
GRCh38: 7:156791474-156791474
16 LMBR1 LMBR1, 589-KB DUP, IVS5 Duplication Pathogenic 4904 GRCh37:
GRCh38:
17 LMBR1 and overlap with 3 gene(s) NG_009240.1:g.(71605_101850)_(134420_151298)dup Duplication Pathogenic 4901 GRCh37: 7:156539605-156619298
GRCh38: 7:156746911-156826604
18 PTCH1 NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) SNV Likely pathogenic 135101 rs560967532 GRCh37: 9:98211538-98211538
GRCh38: 9:95449256-95449256
19 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain significance 623485 rs775468919 GRCh37: 8:38027316-38027316
GRCh38: 8:38169798-38169798
20 LMBR1 NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) SNV Uncertain significance 909247 GRCh37: 7:156520694-156520694
GRCh38: 7:156728000-156728000
21 LMBR1 NM_022458.4(LMBR1):c.*2519T>A SNV Uncertain significance 910210 GRCh37: 7:156474253-156474253
GRCh38: 7:156681559-156681559
22 LMBR1 NM_022458.4(LMBR1):c.*2458A>G SNV Uncertain significance 910211 GRCh37: 7:156474314-156474314
GRCh38: 7:156681620-156681620
23 LMBR1 NM_022458.4(LMBR1):c.*2451C>A SNV Uncertain significance 910212 GRCh37: 7:156474321-156474321
GRCh38: 7:156681627-156681627
24 LMBR1 NM_022458.4(LMBR1):c.*2262G>A SNV Uncertain significance 911110 GRCh37: 7:156474510-156474510
GRCh38: 7:156681816-156681816
25 LMBR1 NM_022458.4(LMBR1):c.*2147T>C SNV Uncertain significance 911111 GRCh37: 7:156474625-156474625
GRCh38: 7:156681931-156681931
26 LMBR1 NM_022458.4(LMBR1):c.*2088C>T SNV Uncertain significance 911112 GRCh37: 7:156474684-156474684
GRCh38: 7:156681990-156681990
27 LMBR1 NM_022458.4(LMBR1):c.*2080C>T SNV Uncertain significance 911113 GRCh37: 7:156474692-156474692
GRCh38: 7:156681998-156681998
28 LMBR1 NM_022458.4(LMBR1):c.*1150A>G SNV Uncertain significance 911169 GRCh37: 7:156475622-156475622
GRCh38: 7:156682928-156682928
29 LMBR1 NM_022458.4(LMBR1):c.*916C>A SNV Uncertain significance 911171 GRCh37: 7:156475856-156475856
GRCh38: 7:156683162-156683162
30 LMBR1 NM_022458.4(LMBR1):c.627A>G (p.Thr209=) SNV Uncertain significance 911244 GRCh37: 7:156554885-156554885
GRCh38: 7:156762191-156762191
31 LMBR1 NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) SNV Uncertain significance 911245 GRCh37: 7:156556391-156556391
GRCh38: 7:156763697-156763697
32 LMBR1 NM_022458.4(LMBR1):c.*2020T>C SNV Uncertain significance 911317 GRCh37: 7:156474752-156474752
GRCh38: 7:156682058-156682058
33 LMBR1 NM_022458.4(LMBR1):c.*245C>T SNV Uncertain significance 911372 GRCh37: 7:156476527-156476527
GRCh38: 7:156683833-156683833
34 LMBR1 NM_022458.4(LMBR1):c.*3187A>G SNV Uncertain significance 912268 GRCh37: 7:156473585-156473585
GRCh38: 7:156680891-156680891
35 LMBR1 NM_022458.4(LMBR1):c.*2948G>T SNV Uncertain significance 912269 GRCh37: 7:156473824-156473824
GRCh38: 7:156681130-156681130
36 LMBR1 NM_022458.4(LMBR1):c.*2899A>T SNV Uncertain significance 359372 rs748449219 GRCh37: 7:156473873-156473873
GRCh38: 7:156681179-156681179
37 LMBR1 NM_022458.4(LMBR1):c.*457C>G SNV Uncertain significance 359409 rs886062118 GRCh37: 7:156476315-156476315
GRCh38: 7:156683621-156683621
38 LMBR1 NM_022458.4(LMBR1):c.*2773G>T SNV Uncertain significance 359375 rs886062111 GRCh37: 7:156473999-156473999
GRCh38: 7:156681305-156681305
39 LMBR1 NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) SNV Uncertain significance 359436 rs886062121 GRCh37: 7:156619378-156619378
GRCh38: 7:156826684-156826684
40 LMBR1 NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) SNV Uncertain significance 359429 rs148974610 GRCh37: 7:156556384-156556384
GRCh38: 7:156763690-156763690
41 LMBR1 NM_022458.4(LMBR1):c.*2500A>G SNV Uncertain significance 359381 rs566692462 GRCh37: 7:156474272-156474272
GRCh38: 7:156681578-156681578
42 LMBR1 NM_022458.4(LMBR1):c.-158G>A SNV Uncertain significance 359442 rs886062123 GRCh37: 7:156685845-156685845
GRCh38: 7:156893151-156893151
43 LMBR1 NM_022458.4(LMBR1):c.*2771G>A SNV Uncertain significance 908270 GRCh37: 7:156474001-156474001
GRCh38: 7:156681307-156681307
44 LMBR1 NM_022458.4(LMBR1):c.*2706A>G SNV Uncertain significance 908271 GRCh37: 7:156474066-156474066
GRCh38: 7:156681372-156681372
45 LMBR1 NM_022458.4(LMBR1):c.*2658T>C SNV Uncertain significance 908272 GRCh37: 7:156474114-156474114
GRCh38: 7:156681420-156681420
46 LMBR1 NM_022458.4(LMBR1):c.*1841T>A SNV Uncertain significance 908331 GRCh37: 7:156474931-156474931
GRCh38: 7:156682237-156682237
47 LMBR1 NM_022458.4(LMBR1):c.*1608C>T SNV Uncertain significance 908332 GRCh37: 7:156475164-156475164
GRCh38: 7:156682470-156682470
48 LMBR1 NM_022458.4(LMBR1):c.*1560T>A SNV Uncertain significance 908333 GRCh37: 7:156475212-156475212
GRCh38: 7:156682518-156682518
49 LMBR1 NM_022458.4(LMBR1):c.-146C>T SNV Uncertain significance 908468 GRCh37: 7:156685833-156685833
GRCh38: 7:156893139-156893139
50 LMBR1 NM_022458.4(LMBR1):c.*1363G>T SNV Uncertain significance 909177 GRCh37: 7:156475409-156475409
GRCh38: 7:156682715-156682715

Expression for Polydactyly, Preaxial Ii

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

Pathways for Polydactyly, Preaxial Ii

Pathways related to Polydactyly, Preaxial Ii according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Polydactyly, Preaxial Ii

Biological processes related to Polydactyly, Preaxial Ii according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.52 SHH PTCH1
2 pattern specification process GO:0007389 9.51 SHH PTCH1
3 embryonic digit morphogenesis GO:0042733 9.49 SHH LMBR1
4 embryonic limb morphogenesis GO:0030326 9.48 SHH PTCH1
5 embryonic organ development GO:0048568 9.46 SHH PTCH1
6 dorsal/ventral pattern formation GO:0009953 9.43 SHH PTCH1
7 branching involved in ureteric bud morphogenesis GO:0001658 9.4 SHH PTCH1
8 spinal cord motor neuron differentiation GO:0021522 9.37 SHH PTCH1
9 somite development GO:0061053 9.32 SHH PTCH1
10 prostate gland development GO:0030850 9.26 SHH PTCH1
11 dorsal/ventral neural tube patterning GO:0021904 9.16 SHH PTCH1
12 smooth muscle tissue development GO:0048745 8.96 SHH PTCH1
13 metanephric collecting duct development GO:0072205 8.62 SHH PTCH1

Molecular functions related to Polydactyly, Preaxial Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 SHH PTCH1

Sources for Polydactyly, Preaxial Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....