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Trait
Poorly developed lungs
Clinical name: Pulmonary hypoplasia
Summary
- Also called
- Small lung, Underdeveloped lung, Hypoplastic lung, Hypoplastic lungs, Lung hypoplasia
- Body system
- Abnormality of the respiratory system
Poorly developed lungsHP:0002089
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Read the genes linked to Poorly developed lungs, and the rest of your genome, with one test.
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Get my Genome Test142 genes linked to Poorly developed lungs
Changes in these genes cause rare conditions in which Poorly developed lungs is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Always | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Always | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 1 condition |
| CEP55centrosomal protein 55 | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| EXOC3L2exocyst complex component 3 like 2 | Always | In 1 condition |
| FGF20fibroblast growth factor 20 | Always | In 2 conditions |
| FGF4fibroblast growth factor 4 | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 2 conditions |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GBA1glucosylceramidase beta 1 | Always | In 1 condition |
| GFRA1GDNF family receptor alpha 1 | Always | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Always | In 2 conditions |
| MUSKmuscle associated receptor tyrosine kinase | Always | In 2 conditions |
| MYH11myosin heavy chain 11 | Always | In 1 condition |
| MYRFmyelin regulatory factor | Always | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Always | In 1 condition |
| NEK9NIMA related kinase 9 | Always | In 1 condition |
| PRRX1paired related homeobox 1 | Always | In 1 condition |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| SRSF1serine and arginine rich splicing factor 1 | Always | In 1 condition |
| THOC2THO complex subunit 2 | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 2 conditions |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| WNT4Wnt family member 4 | Always | In 2 conditions |
| ZFPM2zinc finger protein, FOG family member 2 | Always | In 2 conditions |
| ZIC3Zic family zinc finger 3 | Always | In 1 condition |
| DOK7docking protein 7 | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 1 condition |
| GLDNgliomedin | Very often (80–99%) | In 2 conditions |
| GLE1GLE1 RNA export mediator | Very often (80–99%) | In 2 conditions |
| GREB1LGREB1 like retinoic acid receptor coactivator | Very often (80–99%) | In 1 condition |
| ITGA8integrin subunit alpha 8 | Very often (80–99%) | In 2 conditions |
| KIF21Akinesin family member 21A | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Very often (80–99%) | In 1 condition |
Show 102 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NUP88nucleoporin 88 | Very often (80–99%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Very often (80–99%) | In 2 conditions |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Very often (80–99%) | In 1 condition |
| RARBretinoic acid receptor beta | Very often (80–99%) | In 1 condition |
| RETret proto-oncogene | Very often (80–99%) | In 1 condition |
| SLC18A3solute carrier family 18 member A3 | Very often (80–99%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Very often (80–99%) | In 1 condition |
| WNT9BWnt family member 9B | Very often (80–99%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Very often (80–99%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 3 conditions |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DZIP1LDAZ interacting zinc finger protein 1 like | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Often (30–79%) | In 1 condition |
| FLNBfilamin B | Often (30–79%) | In 1 condition |
| GATA6GATA binding protein 6 | Often (30–79%) | In 1 condition |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| LGI4leucine rich repeat LGI family member 4 | Often (30–79%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| MCTP2multiple C2 and transmembrane domain containing 2 | Often (30–79%) | In 1 condition |
| NEK8NIMA related kinase 8 | Often (30–79%) | In 2 conditions |
| NPHP3nephrocystin 3 | Often (30–79%) | In 3 conditions |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 2 conditions |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Often (30–79%) | In 2 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 2 conditions |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 2 conditions |
| TRIP4thyroid hormone receptor interactor 4 | Often (30–79%) | In 1 condition |
| WNT7BWnt family member 7B | Often (30–79%) | In 1 condition |
| WT1WT1 transcription factor | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ADGRG6adhesion G protein-coupled receptor G6 | Sometimes (5–29%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sometimes (5–29%) | In 3 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| FUZfuzzy planar cell polarity protein | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Sometimes (5–29%) | In 2 conditions |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Sometimes (5–29%) | In 2 conditions |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 2 conditions |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarely (1–4%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Rarely (1–4%) | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Rarely (1–4%) | In 1 condition |
| ACEangiotensin I converting enzyme | Not recorded | In 1 condition |
| AGTangiotensinogen | Not recorded | In 1 condition |
| AGTR1angiotensin II receptor type 1 | Not recorded | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Not recorded | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Not recorded | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Not recorded | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | Not recorded | In 1 condition |
| IFT81intraflagellar transport 81 | Not recorded | In 1 condition |
| INTUinturned planar cell polarity protein | Not recorded | In 1 condition |
| INVSinversin | Not recorded | In 1 condition |
| KIAA0586KIAA0586 | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Not recorded | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Not recorded | In 1 condition |
| NEK1NIMA related kinase 1 | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
| RENrenin | Not recorded | In 1 condition |
| RYR1ryanodine receptor 1 | Not recorded | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SMOsmoothened, frizzled class receptor | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TMEM94transmembrane protein 94 | Not recorded | In 1 condition |
| WNT3Wnt family member 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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