Human Phenotype Ontology 
Grandparent Node:
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Polydactyly (HP:0010442)help
Parent Node:
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Abnormal thumb morphology (HP:0001172)help
Parent Node:
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Hand polydactyly (HP:0001161)help
Parent Node:
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Preaxial polydactyly (HP:0100258)help
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Preaxial hand polydactyly (HP:0001177)help
Term ID: 1177
Name: Preaxial hand polydactyly
Synonym: Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly
Definition: Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Comments:
Reference: HP:0001177
Genes and Diseases:
 
       Child Nodes:

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..expandPreaxial foot polydactyly (HP:0001841) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001177HP:0001177Preaxial hand polydactyly0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0001177HP:0001177Preaxial hand polydactyly0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0001177HP:0001177Preaxial hand polydactyly0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0001177HP:0001177Preaxial hand polydactyly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0001177HP:0001177Preaxial hand polydactyly0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0001177HP:0001177Preaxial hand polydactyly0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0001177HP:0001177Preaxial hand polydactyly0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001177HP:0001177Preaxial hand polydactyly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001177HP:0001177Preaxial hand polydactyly0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001177HP:0001177Preaxial hand polydactyly0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0001177HP:0001177Preaxial hand polydactyly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0001177HP:0001177Preaxial hand polydactyly0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001177HP:0001177Preaxial hand polydactyly0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001177HP:0001177Preaxial hand polydactyly0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0001177HP:0001177Preaxial hand polydactyly0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional304
HP:0001177HP:0001177Preaxial hand polydactyly0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0001177HP:0001177Preaxial hand polydactyly0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0001177HP:0001177Preaxial hand polydactyly0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0001177HP:0001177Preaxial hand polydactyly0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040282 - Frequent48
HP:0001177HP:0001177Preaxial hand polydactyly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001177HP:0001177Preaxial hand polydactyly0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001177HP:0001177Preaxial hand polydactyly0FGFR2 CL E G H22633689OMIM:101200Apert syndromeHP:0040283 - Occasional175
HP:0001177HP:0001177Preaxial hand polydactyly0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001177HP:0001177Preaxial hand polydactyly0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0001177HP:0001177Preaxial hand polydactyly0GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I.1
HP:0001177HP:0001177Preaxial hand polydactyly0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0001177HP:0001177Preaxial hand polydactyly0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001177HP:0001177Preaxial hand polydactyly0HEATR3 CL E G H5502726087OMIM:620072
HP:0001177HP:0001177Preaxial hand polydactyly0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0001177HP:0001177Preaxial hand polydactyly0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0001177HP:0001177Preaxial hand polydactyly0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional65
HP:0001177HP:0001177Preaxial hand polydactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001177HP:0001177Preaxial hand polydactyly0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001177HP:0001177Preaxial hand polydactyly0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001177HP:0001177Preaxial hand polydactyly0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040281 - Very frequent106
HP:0001177HP:0001177Preaxial hand polydactyly0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0001177HP:0001177Preaxial hand polydactyly0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001177HP:0001177Preaxial hand polydactyly0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0001177HP:0001177Preaxial hand polydactyly0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0001177HP:0001177Preaxial hand polydactyly0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0001177HP:0001177Preaxial hand polydactyly0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001177HP:0001177Preaxial hand polydactyly0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0001177HP:0001177Preaxial hand polydactyly0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001177HP:0001177Preaxial hand polydactyly0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0001177HP:0001177Preaxial hand polydactyly0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0001177HP:0001177Preaxial hand polydactyly0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0001177HP:0001177Preaxial hand polydactyly0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0001177HP:0001177Preaxial hand polydactyly0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0001177HP:0001177Preaxial hand polydactyly0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0001177HP:0001177Preaxial hand polydactyly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0001177HP:0001177Preaxial hand polydactyly0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0001177HP:0001177Preaxial hand polydactyly0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001177HP:0001177Preaxial hand polydactyly0SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040283 - Occasional86
HP:0001177HP:0001177Preaxial hand polydactyly0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0001177HP:0001177Preaxial hand polydactyly0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0001177HP:0001177Preaxial hand polydactyly0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001177HP:0001177Preaxial hand polydactyly0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0001177HP:0001177Preaxial hand polydactyly0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0001177HP:0001177Preaxial hand polydactyly0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0001177HP:0001177Preaxial hand polydactyly0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0001177HP:0001177Preaxial hand polydactyly0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0001177HP:0001177Preaxial hand polydactyly0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0001177HP:0001177Preaxial hand polydactyly0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001177HP:0001177Preaxial hand polydactyly0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0001177HP:0001177Preaxial hand polydactyly0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0001177HP:0001177Preaxial hand polydactyly0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0001177HP:0001177Preaxial hand polydactyly0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0001177HP:0001177Preaxial hand polydactyly0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional136
HP:0001177HP:0001177Preaxial hand polydactyly0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (56) :B9D1 B9D2 BHLHA9 CC2D2A CDC45 CEP290 CHN1 CPLANE1 CPLX1 CSPP1 CTBP1 DACT1 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 EXTL3 FANCD2 FGFR2 FGFRL1 GJA1 GLI1 GLI3 HEATR3 HOXD13 HYLS1 IFT80 KIF7 LETM1 LMBR1 MAFB MKS1 NEK1 NELFA NSD2 OFD1 PHF8 PIGG PUF60 RPGRIP1 RPGRIP1L SALL1 SALL4 SMO TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WDR35 ZNF699

Diseases (37) :ORPHA:564 ORPHA:3329 OMIM:617063 ORPHA:233 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:857 ORPHA:93271 OMIM:610536 ORPHA:79113 ORPHA:508533 OMIM:227646 OMIM:101200 ORPHA:2710 OMIM:174400 ORPHA:380 OMIM:175700 OMIM:620072 ORPHA:887 OMIM:236680 OMIM:200990 ORPHA:2378 OMIM:174500 OMIM:263520 ORPHA:2750 ORPHA:85287 ORPHA:508498 OMIM:107480 ORPHA:959 ORPHA:2307 OMIM:601707 ORPHA:1553 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.