Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thumb phalanx (HP:0009602)help
Grandparent Node:
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Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
Parent Node:
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Abnormal 1st metacarpal morphology (HP:0010009)help
Parent Node:
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Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)help
Parent Node:
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Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)help
..Starting node
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Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)help
Term ID: 10026
Name: Aplasia/Hypoplasia of the 1st metacarpal
Synonym: Absent/small 1st long bone of hand; Absent/underdeveloped 1st long bone of hand
Definition: Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
Comments:
Reference: HP:0010026
Genes and Diseases:
 
       Child Nodes:
........expandShort 1st metacarpal (HP:0010034) help
........expandAplasia of the 1st metacarpal (HP:0010035) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the proximal phalanx of the thumb (HP:0009629) help
..expandPartial absence of thumb (HP:0009659) help
..expandShort phalanx of the thumb (HP:0009660) 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:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent90
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent52
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0LAMA5 CL E G H39116485OMIM:6200765
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0LMBR1 CL E G H6432713243ORPHA:93321Radial hemimelia106
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SHH CL E G H646910848ORPHA:93321Radial hemimelia67
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0010026HP:0010026Aplasia/Hypoplasia of the 1st metacarpal0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0010026HP:0010034Short 1st metacarpal1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0010026HP:0010034Short 1st metacarpal1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0010026HP:0010034Short 1st metacarpal1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0010026HP:0010034Short 1st metacarpal1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0010026HP:0010034Short 1st metacarpal1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010026HP:0010035Aplasia of the 1st metacarpal1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0010026HP:0010034Short 1st metacarpal1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0010026HP:0010035Aplasia of the 1st metacarpal1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0010026HP:0010034Short 1st metacarpal1FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040281 - Very frequent
HP:0010026HP:0010034Short 1st metacarpal1FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0010026HP:0010034Short 1st metacarpal1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0010026HP:0010034Short 1st metacarpal1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0010026HP:0010034Short 1st metacarpal1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0010026HP:0010034Short 1st metacarpal1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0010026HP:0010034Short 1st metacarpal1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0010026HP:0010034Short 1st metacarpal1LAMA5 CL E G H39116485OMIM:6200765
HP:0010026HP:0010035Aplasia of the 1st metacarpal1LMBR1 CL E G H6432713243ORPHA:93321Radial hemimeliaHP:0040281 - Very frequent106
HP:0010026HP:0010034Short 1st metacarpal1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010026HP:0010034Short 1st metacarpal1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0010026HP:0010034Short 1st metacarpal1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010026HP:0010034Short 1st metacarpal1NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0010026HP:0010034Short 1st metacarpal1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0010026HP:0010034Short 1st metacarpal1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0010026HP:0010034Short 1st metacarpal1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0010026HP:0010034Short 1st metacarpal1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0010026HP:0010034Short 1st metacarpal1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0010026HP:0010034Short 1st metacarpal1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0010026HP:0010035Aplasia of the 1st metacarpal1SHH CL E G H646910848ORPHA:93321Radial hemimeliaHP:0040281 - Very frequent67
HP:0010026HP:0010034Short 1st metacarpal1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0010026HP:0010034Short 1st metacarpal1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0010026HP:0010034Short 1st metacarpal1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010026HP:0010034Short 1st metacarpal1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010026HP:0010035Aplasia of the 1st metacarpal1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0010026HP:0010035Aplasia of the 1st metacarpal1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0010026HP:0010034Short 1st metacarpal1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0010026HP:0010035Aplasia of the 1st metacarpal1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125


Genes (31) :ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCD2 FANCI FIG4 FZD2 GDF5 HDAC8 HOXA13 LAMA5 LMBR1 MEG3 NIPBL NOG PCNT RAD21 RTL1 SALL4 SETBP1 SHH SMC1A SMC3 SOX9 SRCAP TRIO VAC14 VPS35L XRCC2

Diseases (28) :OMIM:135100 OMIM:609441 ORPHA:93384 ORPHA:199 OMIM:251450 ORPHA:96334 OMIM:227646 OMIM:609053 ORPHA:3472 ORPHA:93328 OMIM:164745 ORPHA:63442 OMIM:113100 ORPHA:2438 OMIM:140000 OMIM:620076 ORPHA:93321 OMIM:611377 OMIM:186570 OMIM:210720 OMIM:147750 OMIM:269150 ORPHA:798 OMIM:114290 OMIM:136140 ORPHA:476126 OMIM:619135 OMIM:617247
 

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