| Term ID: |
1840 |
| Name: |
Metatarsus adductus |
| Synonym: |
Forefoot varus; Front half of foot turns inward; Intoe; Metatarsus adductovarsus; Metatarsus varus |
| Definition: |
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. |
| Comments: |
|
| Reference: |
HP:0001840 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal metatarsal ossification (HP:0008371) 
|
..Abnormality of metatarsal epiphysis (HP:0010630)
|
..Abnormality of the fifth metatarsal bone (HP:0008089)
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..Abnormality of the first metatarsal bone (HP:0010054)
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..Abnormality of the fourth metatarsal bone (HP:0040035)
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..Abnormality of the second metatarsal bone (HP:0040034)
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..Abnormality of the third metatarsal bone (HP:0010672)
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..Aplasia/Hypoplasia of metatarsal bones (HP:0001964)
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..Broad metatarsal (HP:0001783)
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..Distal tapering of metatarsals (HP:0008133)
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..Duplication of metatarsal bones (HP:0001449)
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..Expanded metatarsals with widened medullary cavities (HP:0008102)
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..Flattened metatarsal heads (HP:0005194)
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..Metatarsal diaphyseal endosteal sclerosis (HP:0008114)
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..Metatarsal osteolysis (HP:0001473)
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..Metatarsal periosteal thickening (HP:0008074)
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..Metatarsal synostosis (HP:0001440)
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..Metatarsus valgus (HP:0010508)
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..Osteoporotic metatarsal (HP:0004699)
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..Second metatarsal posteriorly placed (HP:0008125)
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..Thin metatarsal cortices (HP:0008078)
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..Y-shaped metatarsals (HP:0010567)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040282 - Frequent | | | 54 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | . | | | 134 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | | | HP:0001840 | HP:0001840 | Metatarsus adductus | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
Genes (46) :B3GALT6 B3GAT3 CHST3 CPLX1 CTBP1 DDR2 DHCR24 DHCR7 DLK1 EZH2 FBN1 FBN2 FGFRL1 FIBP FIG4 GLI3 GUSB LETM1 LIG4 LMNB2 MAPK1 MEG3 MYH8 NALCN NSD2 NSUN2 PEX1 PEX2 PEX5 PIEZO2 RAB23 RAB3GAP2 RTL1 SH3PXD2B SKI SLC26A2 SLC35A2 SOX9 TNNI2 TNNT3 TRPV4 TUBB3 UBE3B VAC14 WDR26 ZBTB20
Diseases (38) :OMIM:271640 OMIM:245600 OMIM:194190 OMIM:271665 ORPHA:35107 OMIM:270400 ORPHA:96334 OMIM:277590 OMIM:154700 OMIM:121050 ORPHA:500095 ORPHA:3472 ORPHA:93322 ORPHA:584 OMIM:253220 ORPHA:235 OMIM:619180 OMIM:619087 OMIM:158300 OMIM:616266 OMIM:214100 OMIM:614866 OMIM:214110 ORPHA:2461 OMIM:201000 OMIM:212720 OMIM:249420 OMIM:182212 ORPHA:56304 ORPHA:356961 OMIM:114290 OMIM:601680 OMIM:618435 OMIM:181405 ORPHA:300570 OMIM:244450 ORPHA:513456 OMIM:259050 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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